Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: SSR3

Amber List (moderate evidence)

SSR3 (signal sequence receptor subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000114850
EnsemblGeneIds (GRCh37): ENSG00000114850
OMIM: 606213, Gene2Phenotype
SSR3 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. SSR3 is currently not associated with any phenotype in OMIM or G2P. Only a single case reported to date (PMID: 30945312); however, supported by functional data. Variants in other TRAP complex subunits (e.g. SSR4) have been shown to cause a CDG.

Rating Amber, awaiting further cases prior to inclusion as diagnostic-grade.
Created: 5 Aug 2021, 10:04 a.m. | Last Modified: 5 Aug 2021, 10:04 a.m.
Panel Version: 2.73

Zornitza Stark (Australian Genomics)

I don't know

Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence.
Sources: Literature
Created: 9 Dec 2020, 6:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Congenital disorder of glycosylation, type Iu, MIM#615042



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Literature
  • Expert Review Amber
  • Congenital disorder of glycosylation
Clinvar variants
Variants in SSR3
Panels with this gene

History Filter Activity

5 Aug 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: SSR3 was added gene: SSR3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SSR3 were set to 30945312 Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation