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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 29 May 2024, 9:18 p.m. | Last Modified: 29 May 2024, 9:18 p.m.
Panel Version: 0.6016

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

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

Katie Thompson (Other)

Green List (high evidence)

Decipher - disorder of glycosolation (XLR), strong evidence
ORPHA:370927 GenCC strong. Not in gene2phenotype.
OMIM: 300934. 2 good quality papers, one with 4 unrelated families, two with mendelian inheritance. Evidence of less severe phenotype in heterozygote females
Western blot showed complete loss of protein. All variants caused loss of function mainly from premature termination.
Created: 29 May 2024, 4:55 a.m. | Last Modified: 29 May 2024, 5:09 a.m.
Panel Version: 0.6007

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
intellectual disabilities; hypotonia; microcephaly; seizures; Feeding problems; Facial dysmorphism; Gastrointestinal abnormalities; Failure to thrive; strabismus

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

29 May 2024, 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).

29 May 2024, 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

29 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SSR4 were set to

29 May 2024, 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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SSR4 was set to Unknown