Genomics England
GMS Panels
Panels
Genes and Entities

SSR4

signal sequence receptor subunit 4
OMIM: 300090
PanelMode of inheritanceDetails
3 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Congenital disorder of glycosylation, type Iy 300934
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Congenital disorder of glycosylation, type Iy, 300934, CDG syndrome type Iy, SSR4-CDG
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Congenital disorder of glycosylation, type Iy 300934