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  2. Congenital disorders of glycosylation
  3. SSR3
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Congenital disorders of glycosylation

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
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

Phenotypes
Congenital disorder of glycosylation, type Iu, MIM#615042

Publications

Created: 9 Dec 2020, 6:57 a.m.

Panel version: 2.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation
OMIM
606213
Clinvar variants
Variants in SSR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ssr3 has been classified as Amber List (Moderate Evidence).

5 Aug 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SSR3 were changed from Congenital disorder of glycosylation, type Iu, MIM#615042 to Congenital disorder of glycosylation

9 Dec 2020, Gel status: 0

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

Zornitza Stark (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, type Iu, MIM#615042 Review for gene: SSR3 was set to AMBER