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  2. Congenital Disorders of Glycosylation
  3. SSR4
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Congenital Disorders of Glycosylation

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 9 Mar 2020, 10:51 p.m.

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

Phenotypes
Congenital disorder of glycosylation, type Iy, MIM#300934

Created: 9 Mar 2020, 10:51 p.m.

Panel version: 0.41

Details

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

History Filter Activity

9 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ssr4 has been classified as Green List (High Evidence).

9 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ssr4 has been classified as Green List (High Evidence).

9 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SSR4 was added gene: SSR4 was added to Congenital Disorders of Glycosylation. Sources: Expert list Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, MIM#300934 Review for gene: SSR4 was set to GREEN