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Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 25 Nov 2020, 11:01 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 Mendeliome. 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