NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys) AND Congenital cerebellar hypoplasia

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001258013.1

Allele description [Variation Report for NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)]

NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)

Gene:

TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)

HGVS:

NC_000023.11:g.155524537G>A
NG_021318.1:g.93425C>T
NM_001184797.2:c.277C>T
NM_018196.4:c.277C>TMANE SELECT
NP_001171726.1:p.Arg93Cys
NP_060666.1:p.Arg93Cys
NC_000023.10:g.154754198G>A
NM_018196.3:c.277C>T

Protein change:

R93C

Links:

dbSNP: rs782785654

NCBI 1000 Genomes Browser:

rs782785654

Molecular consequence:

NM_001184797.2:c.277C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018196.4:c.277C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital cerebellar hypoplasia (CHEGDD)
Synonyms:: Isolated cerebellar hypoplasia/agenesis; Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
Identifiers:: MONDO: MONDO:0008939; MedGen: C5231391; Orphanet: 2246; OMIM: 213000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001434827	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001434827

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

maternal

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, et al.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PubMed [citation]

PMID:: 31474318
PMCID:: PMC6731369

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001434827.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 21, 2023

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