ClinVar Genomic variation as it relates to human health
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic(7); Likely pathogenic(3); Uncertain significance(5); Benign(1); Likely benign(2)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
Variation ID: 265349 Accession: VCV000265349.65
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 14q31.3 14: 87965582 (GRCh38) [ NCBI UCSC ] 14: 88431926 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Sep 30, 2017 Oct 8, 2024 Mar 29, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000153.4:c.956A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000144.2:p.Tyr319Cys missense NM_000153.3:c.[956A>G] NM_001201401.2:c.887A>G NP_001188330.1:p.Tyr296Cys missense NM_001201402.2:c.878A>G NP_001188331.1:p.Tyr293Cys missense NC_000014.9:g.87965582T>C NC_000014.8:g.88431926T>C NG_011853.3:g.32982A>G - Protein change
- Y319C, Y296C, Y293C
- Other names
- -
- Canonical SPDI
- NC_000014.9:87965581:T:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00200 (C)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
The Genome Aggregation Database (gnomAD) 0.00019
Trans-Omics for Precision Medicine (TOPMed) 0.00030
The Genome Aggregation Database (gnomAD), exomes 0.00149
Exome Aggregation Consortium (ExAC) 0.00169
1000 Genomes Project 0.00200
1000 Genomes Project 30x 0.00265
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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GALC | - | - |
GRCh38 GRCh37 |
1326 | 1439 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Feb 13, 2024 | RCV000255537.39 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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May 3, 2020 | RCV000507823.15 | |
Conflicting interpretations of pathogenicity (12) |
criteria provided, conflicting classifications
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Mar 29, 2024 | RCV000590447.27 | |
GALC-related disorder
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Uncertain significance (1) |
no assertion criteria provided
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Aug 29, 2024 | RCV004757183.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 14, 2016)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603777.1
First in ClinVar: Sep 30, 2017 Last updated: Sep 30, 2017 |
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Pathogenic
(Mar 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Galactosylceramide beta-galactosidase deficiency
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695680.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
Comment:
Variant summary: The GALC c.956A>G (p.Tyr319Cys) variant (alternatively also known Y303C) involves the alteration of a conserved nucleotide and is located in catalytic domain of … (more)
Variant summary: The GALC c.956A>G (p.Tyr319Cys) variant (alternatively also known Y303C) involves the alteration of a conserved nucleotide and is located in catalytic domain of the protein (via InterPro). Structural analysis shows that it is located in substrate-binding pocket (Deane_2011, PMID: 21876145). 5/5 in silico tools predict damaging outcome for this variant. This variant was found in 203/120350 control chromosomes (including 2 homozygotes) from ExAC and it was relatively more commonly found in South Asian subpopulation at an allele frequency of 0.010246 (169/16494). In literature, this variant is reported in patients with late- or later-onset Krabbe disease in compound heterozygosity with other pathogenic variants, including cosegregation with disease in two families (Debs_2012, Duffner_2012). In a cohort of 348 infants with low GALC activity referred for diagnostic testing in a study of newborn screening for Krabbe disease in New York state, this variant was found with an allele frequency of 6.8% (47/696 chromosomes), suggesting it is a recurrent mutation (Orsini_2016). One in vitro functional study shows that this variant leads to a significant decrease in enzymatic activity (Saavedra-Matiz_2016). Absent or significantly reduced GALC enzyme activity was also detected in a patient who had this variant and a second splice-site variant on the other allele (Duffner_2012). One clinical diagnostic laboratory has classified this variant as pathogenic. Taken together, this variant is classified as Pathogenic. (less)
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Pathogenic
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Galactosylceramide beta-galactosidase deficiency
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001139496.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
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Benign
(May 03, 2020)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
unknown
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV001251713.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
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Likely benign
(-)
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criteria provided, single submitter
Method: research
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Galactosylceramide beta-galactosidase deficiency
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Accession: SCV001435231.1
First in ClinVar: Oct 03, 2020 Last updated: Oct 03, 2020 |
Comment:
The heterozygous p.Tyr319Cys variant in GALC has been identified in an individual in the compound heterozygous state with 20% of normal GALC enzyme activitiy and … (more)
The heterozygous p.Tyr319Cys variant in GALC has been identified in an individual in the compound heterozygous state with 20% of normal GALC enzyme activitiy and Krabbe disease (PMID: 22520351), and has been identified in >1% of South Asian chromosomes and 2 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal recessive Krabbe disease. (less)
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Uncertain significance
(May 18, 2021)
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criteria provided, single submitter
Method: clinical testing
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Galactosylceramide beta-galactosidase deficiency
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV001716346.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Sex: mixed
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Uncertain significance
(Nov 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Galactosylceramide beta-galactosidase deficiency
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000815534.4
First in ClinVar: Oct 10, 2018 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 319 of the GALC protein … (more)
This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 319 of the GALC protein (p.Tyr319Cys). This variant is present in population databases (rs183105855, gnomAD 1.0%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with clinical features of Krabbe disease (PMID: 11003282, 22520351, 23197103, 27535533). This variant is also known as p.Y303C. ClinVar contains an entry for this variant (Variation ID: 265349). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GALC protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Likely pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Galactosylceramide beta-galactosidase deficiency
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001163748.2
First in ClinVar: Feb 28, 2020 Last updated: Mar 18, 2023 |
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Uncertain significance
(Feb 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001714488.2
First in ClinVar: Jun 15, 2021 Last updated: Jan 26, 2024 |
Number of individuals with the variant: 4
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Uncertain significance
(Feb 13, 2024)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000322147.11
First in ClinVar: Oct 10, 2016 Last updated: Jul 23, 2024 |
Comment:
One of the most common variants observed in individuals identified by newborn screening, where it typically observed on the same allele (in cis) with the … (more)
One of the most common variants observed in individuals identified by newborn screening, where it typically observed on the same allele (in cis) with the p.(D248N) variant; these individuals have not developed Krabbe disease in childhood, but some individuals had psychosine in the intermediate range (PMID: 26795590, 34065072, 33832819); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27126738, 27535533, 27638593, 22520351, 34426522, 23197103, 11003282, 33832819, 35002157, 34670123, 26795590, 33178108, 31069529, 35460079, 36920572, 36964972, 37432431, 34065072) (less)
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Likely benign
(Jun 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV000574984.31
First in ClinVar: Oct 10, 2016 Last updated: Oct 08, 2024 |
Comment:
GALC: BS2
Number of individuals with the variant: 4
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Pathogenic
(Jun 19, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002064462.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
Comment:
DNA sequence analysis of the GALC gene demonstrated a sequence change, c.956A>G, in exon 9 that results in an amino acid change, p.Tyr319Cys. This sequence … (more)
DNA sequence analysis of the GALC gene demonstrated a sequence change, c.956A>G, in exon 9 that results in an amino acid change, p.Tyr319Cys. This sequence change has been described in the gnomAD database with a population frequency of 0.13% (dbSNP rs183105855). This is a common pathogenic sequence change that has previously been described in multiple patients with later-onset Krabbe disease in the homozygous and compound heterozygous states. These patients had absent or significantly reduced galactocerebrosidase activity (PMIDs: 22520351, 22115770). Experimental studies have demonstrated that this variant disrupts protein trafficking likely due to protein misfolding (PMID: 27126738). The p.Tyr319Cys change affects a moderately conserved amino acid residue located in a domain of the GALC protein that is known to be functional. The p.Tyr319Cys substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Mutation Taster, REVEL). These collective evidences indicate that this sequence change is pathogenic. (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Galactosylceramide beta-galactosidase deficiency
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV002073319.1
First in ClinVar: Feb 03, 2022 Last updated: Feb 03, 2022 |
Comment:
The Y319C variant (reported as Y303C due to the use of alternate nomenclature) has been published previously in multiple unrelated individuals with later-onset Krabbe disease … (more)
The Y319C variant (reported as Y303C due to the use of alternate nomenclature) has been published previously in multiple unrelated individuals with later-onset Krabbe disease and absent or significantly reduced galactocerebrosidase enzyme activity who harbored a second pathogenic variant on the other allele (Debs et al, 2013; Duffner et al, 2012; Farina et al, 2000).In vitro functional studies showed a significant decrease in enzyme activity (Saavedra-Matiz CA et al). The variant has been submitted to ClinVar as Pathogenic. The Y319C variant was observed on 1% alleles from individuals of South Asian background in the Exome Aggregation Consortium (ExAC) data set.In silico analysis predicts the variant to be damaging and the residue is moderately conserved across species. Based on the above the variant is classified as Pathogenic. (less)
Clinical Features:
Abnormality of the eye (present) , Seizure (present)
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Likely pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Galactosylceramide beta-galactosidase deficiency
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
inherited
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Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
Accession: SCV002500966.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Sex: male
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Pathogenic
(Jun 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Galactosylceramide beta-galactosidase deficiency
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002767240.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as pathogenic. The following criteria are met: 0102 - Loss of function is a known … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as pathogenic. The following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Krabbe disease (MIM#245200). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0115 - Variants in this gene are known to have variable expressivity. Disease severity and age of onset can be highly variable even within families (OMIM; PMID: 33178108) (I) 0200 - Variant is predicted to result in a missense amino acid change from tyrosine to cysteine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (368 heterozygotes, 3 homozygotes). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated glycosyl hydrolase family 59 (NCBI). (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals and is also known as p.(Tyr303Cys) due to alternate nomenclature. The variant has previously been described as pathogenic in multiple individuals with Krabbe disease and is considered to be a hypomorphic allele which results in disease when in trans with a more severe variant (PMIDs: 10234611, 22115770, 22520351, 23197103, 24388568, 26795590, 27638593, 29481565, 30089515, 31093932). However, this variant has also been reported in at least three homozygous patients with juvenile and late-infantile onset phenotype (PMID: 33178108). (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1001 - This variant has strong functional evidence supporting abnormal protein function. Studies have demonstrated significantly reduced GALC activity in patients, and functional work in transfected cells showed that the variant results in ER retention and is therefore not properly trafficked to lysosomes, likely due to protein misfolding (PMIDs: 10234611, 22520351, 27126738, 30089515). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Likely pathogenic
(Jul 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002025243.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Uncertain significance
(Mar 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Galactosylceramide beta-galactosidase deficiency
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004808121.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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Pathogenic
(Feb 01, 2024)
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criteria provided, single submitter
Method: curation
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Galactosylceramide beta-galactosidase deficiency
Affected status: no
Allele origin:
germline
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV005051780.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 2024 |
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Uncertain significance
(May 02, 2019)
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no assertion criteria provided
Method: clinical testing
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Galactosylceramide beta-galactosidase deficiency
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000800677.2
First in ClinVar: Mar 17, 2018 Last updated: Dec 23, 2019 |
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Uncertain significance
(Aug 29, 2024)
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no assertion criteria provided
Method: clinical testing
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GALC-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV005350939.1
First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024 |
Comment:
The GALC c.956A>G variant is predicted to result in the amino acid substitution p.Tyr319Cys. This variant has been reported in compound heterozygous states with other … (more)
The GALC c.956A>G variant is predicted to result in the amino acid substitution p.Tyr319Cys. This variant has been reported in compound heterozygous states with other potentially pathogenic GALC variants (missense variant and 30-kb gross deletion) in multiple unrelated patients with late-onset Krabbe disease who had reduced enzyme activity (Duffner et al., 2012. PubMed ID: 22520351; Farina et al., 2000. PubMed ID: 11003282). Results obtained from in-vitro studies suggested that the p.Tyr319Cys variant is likely to cause disease due to protein misfolding (Spratley et al., 2016. PubMed ID: 27126738). This variant is reported in 0.97% of alleles in individuals of South Asian descent in gnomAD, including three homozygous individuals (http://gnomad.broadinstitute.org/variant/14-88431926-T-C). However, to date there is no known case of Krabbe disease with homozygous p.Tyr319Cys variant (www.mdpi.com/2409-515X/3/1/3/pdf). This variant has conflicting interpretations of pathogenicity in ClinVar ranging from benign to pathogenic (http://www.ncbi.nlm.nih.gov/clinvar/variation/265349). Although we suspect that this variant may be pathogenic, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Advances in the Diagnosis and Treatment of Krabbe Disease. | Wenger DA | International journal of neonatal screening | 2021 | PMID: 34449528 |
Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease. | Basheeruddin K | International journal of neonatal screening | 2021 | PMID: 34065072 |
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. | Thompson-Stone R | Molecular genetics and metabolism | 2021 | PMID: 33832819 |
Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature. | Bascou NA | Frontiers in neurology | 2020 | PMID: 33178108 |
Selective Pyramidal Tract Involvement in Late-Onset Krabbe Disease. | Michael SN | Indian journal of pediatrics | 2019 | PMID: 31093932 |
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. | Bascou N | Orphanet journal of rare diseases | 2018 | PMID: 30089515 |
Analysis of age-related changes in psychosine metabolism in the human brain. | Marshall MS | PloS one | 2018 | PMID: 29481565 |
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. | Saavedra-Matiz CA | Journal of neuroscience research | 2016 | PMID: 27638593 |
Newborn screening for Krabbe's disease. | Orsini JJ | Journal of neuroscience research | 2016 | PMID: 27638592 |
Analysis of protein-coding genetic variation in 60,706 humans. | Lek M | Nature | 2016 | PMID: 27535533 |
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. | Elliott S | Molecular genetics and metabolism | 2016 | PMID: 27238910 |
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. | Spratley SJ | Traffic (Copenhagen, Denmark) | 2016 | PMID: 27126738 |
Newborn screening for Krabbe disease in New York State: the first eight years' experience. | Orsini JJ | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26795590 |
Krabbe disease: are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? | Wenger DA | Molecular genetics and metabolism | 2014 | PMID: 24388568 |
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. | Debs R | Journal of inherited metabolic disease | 2013 | PMID: 23197103 |
Later onset phenotypes of Krabbe disease: results of the world-wide registry. | Duffner PK | Pediatric neurology | 2012 | PMID: 22520351 |
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. | Puckett RL | Molecular genetics and metabolism | 2012 | PMID: 22115770 |
Insights into Krabbe disease from structures of galactocerebrosidase. | Deane JE | Proceedings of the National Academy of Sciences of the United States of America | 2011 | PMID: 21876145 |
MR imaging and proton MR spectroscopy in adult Krabbe disease. | Farina L | AJNR. American journal of neuroradiology | 2000 | PMID: 11003282 |
Molecular heterogeneity of Krabbe disease. | Fu L | Journal of inherited metabolic disease | 1999 | PMID: 10234611 |
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Text-mined citations for rs183105855 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.