Congenital disorders of glycosylation
Gene: SSR4

SSR4 (signal sequence receptor subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000180879
EnsemblGeneIds (GRCh37): ENSG00000180879
OMIM: 300090, Gene2Phenotype
SSR4 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

GlyGen link updated April 2021: https://www.glygen.org/protein/P51571-1#Disease
Created: 8 Apr 2021, 2:09 p.m. | Last Modified: 8 Apr 2021, 2:09 p.m.

Panel Version: 2.66

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Five X linked hemizygous variants in males reported
Created: 19 Dec 2016, 2:52 p.m.

Created: 19 Dec 2016, 2:52 p.m.

Panel version: 2.66

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

26264460

Created: 14 Dec 2016, 3:49 p.m.

Panel version: 0.20

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Other

Phenotypes

Congenital disorder of glycosylation, type Iy 300934

OMIM

300090

Clinvar variants

Variants in SSR4

Penetrance

Complete

Publications

26264460

Panels with this gene

History Filter Activity

24 Jan 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SSR4 were changed from ?Congenital disorder of glycosylation, type Iy 300934 to Congenital disorder of glycosylation, type Iy 300934

19 Dec 2016, Gel status: 4