Congenital Disorders of Glycosylation
Gene: SSR3
SSR3 (signal sequence receptor subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000114850
EnsemblGeneIds (GRCh37): ENSG00000114850
OMIM: 606213, Gene2Phenotype
SSR3 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000114850
EnsemblGeneIds (GRCh37): ENSG00000114850
OMIM: 606213, Gene2Phenotype
SSR3 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence.
Sources: LiteratureCreated: 25 Nov 2020, 10:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Congenital disorder of glycosylation
- OMIM
- 606213
- Clinvar variants
- Variants in SSR3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
25 Nov 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ssr3 has been classified as Amber List (Moderate Evidence).
25 Nov 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ssr3 has been classified as Amber List (Moderate Evidence).
25 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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 Review for gene: SSR3 was set to AMBER