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Intellectual disability

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New gene added by external expert review, who notes that there are multiple affected individuals from unrelated families reported in the literature, ID can be part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Created: 18 Jul 2018, 3:57 p.m.
From orphanet :SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).
Created: 18 Jul 2018, 3:47 p.m.
Associated with phenotype in OMIM, not in G2P / DD. Five X linked hemizygous variants in males reported
Created: 18 Jul 2018, 3:47 p.m.
Created: 18 Jul 2018, 3:47 p.m.

Panel version: 2.185

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple affected individuals from unrelated families reported in the literature, ID can be part of the phenotype.
Created: 22 Jun 2018, 2:48 p.m.

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

Phenotypes
Congenital disorder of glycosylation, type Iy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jun 2018, 2:48 p.m.

Panel version: 2.109

Details

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

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SSR4.

18 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

18 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, 300934; CDG syndrome type Iy; SSR4-CDG

18 Jul 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SSR4 were set to 26264460; 24218363

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

SSR4 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

SSR4 was created by Zornitza Stark