Congenital disorders of glycosylation
Gene: SSR3Comment 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
Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence.
Sources: LiteratureCreated: 9 Dec 2020, 6:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Iu, MIM#615042
Publications
Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SSR3 were changed from Congenital disorder of glycosylation, type Iu, MIM#615042 to Congenital disorder of glycosylation
gene: SSR3 was added gene: SSR3 was added to Congenital disorders of glycosylation. Sources: 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, type Iu, MIM#615042 Review for gene: SSR3 was set to AMBER