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Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

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.

PMID: 38805916 - described clinical features in 22 patients with CDG1Y, including 4 newly reported patients and 18 ascertained through a literature review. All patients had developmental delay, speech delay, impaired intellectual development, muscular hypotonia, and microcephaly. Characteristic facial features included abnormal ears (large, long, abnormally shaped, or low set), thin upper lip, micro/retrognathia, and an abnormal philtrum. Growth failure and failure to thrive were reported in 84% of patients. Ophthalmologic features, including strabismus or abnormal visual acuity, were reported in 80% of patients. Some patients had connective tissue abnormalities, including inguinal hernia, joint laxity, or arachnodactyly. Five patients had cardiovascular abnormalities, including ductus arteriosus, atrial septal defect, ventricular septal defects, or tricuspid insufficiency. Six patients had abnormal coagulation factors
Created: 7 Feb 2025, 12:46 p.m. | Last Modified: 7 Feb 2025, 12:46 p.m.
Panel Version: 1.1566

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
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive
OMIM
300090
Clinvar variants
Variants in SSR4
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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, 300934 (3), X-linked recessive