SSR4:Ensemblv115

signal sequence receptor subunit 4
OMIM: 300090, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SSR4 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iy, MIM#300934

Green SSR4 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive

Green SSR4 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iy MIM#300934