Single allele AND SSR4-congenital disorder of glycosylation

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 10, 2020
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:: RCV001268961.1

Allele description [Variation Report for Single allele]

Genes:: SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
IDH3G:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma [Gene - OMIM - HGNC]
PLXNB3:plexin B3 [Gene - OMIM - HGNC]
SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: Xq28
Genomic location:: ChrX: 153011909 - 153063825 (on Assembly GRCh37)
HGVS:: NC_000023.10:g.153011909_153063825del
This HGVS expression did not pass validation
Observations:: 1

Condition(s)

Name:: SSR4-congenital disorder of glycosylation
Synonyms:: CDG IY; Congenital disorder of glycosylation type 1y; SSR4-CDG
Identifiers:: MONDO: MONDO:0010490; MedGen: C4012395; Orphanet: 370927; OMIM: 300934

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001441594	Pediatric Neurology and Rare Diseases Department, Hospital Sant Joan de Deu	no assertion criteria provided	Pathogenic (Nov 10, 2020)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001441594

Pediatric Neurology and Rare Diseases Department, Hospital Sant Joan de Deu

no assertion criteria provided

Pathogenic
(Nov 10, 2020)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing
Latine	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Pediatric Neurology and Rare Diseases Department, Hospital Sant Joan de Deu, SCV001441594.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	not provided
2	Latine	1	not provided	not provided	clinical testing	not provided
3	Latine	1	not provided	not provided	clinical testing	not provided

Description

Deletions including this gene have been reported by Ng et al 2015, Human Mutation (DOI: 10.1002/humu.22856)

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

Last Updated: Oct 8, 2022

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