Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: SSR4

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iy 300934
OMIM
300090
Clinvar variants
Variants in SSR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2019, Gel status: 4

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

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes ?Congenital disorder of glycosylation, type Iy 300934 for gene: SSR4

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SSR4 was added gene: SSR4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SSR4 were set to 26264460 Phenotypes for gene: SSR4 were set to ?Congenital disorder of glycosylation, type Iy 300934