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Mendeliome

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)

Type 1 serum sialotransferrin profile. Clinical features include hypotonia, failure to thrive, developmental delay, and dysmorphic traits as well as some features overlapping connective tissue disorders (redundant skin, joint laxity, blue sclerae, and vascular tortuosity).

More than 5 unrelated families reported.
Created: 6 Apr 2022, 8:52 a.m. | Last Modified: 6 Apr 2022, 8:52 a.m.
Panel Version: 0.12628

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

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

Publications

Details

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

History Filter Activity

6 Apr 2022, 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).

6 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SSR4 were set to

6 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SSR4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SSR4 was added gene: SSR4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SSR4 was set to Unknown