Genomics England
GMS Panels
Panels
Genes and Entities

SLC35A2

solute carrier family 35 member A2
OMIM: 314375
PanelMode of inheritanceDetails
7 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.7
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Congenital disorder of glycosylation, type IIm OMIM:300896, Developmental and epileptic encephalopathy-22 OMIM:300896, SLC35A2-CDG MONDO:0010478
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Epileptic Encephalopathy due to congenital disorder of glycosylation
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy), Epileptic encephalopathy, early infantile, 22 (EIEE22), early-onset epileptic encephalopathy, epilepsy
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION
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 7.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Intellectual disability, Congenital disorder of glycosylation, type IIm 300896, SLC35A2-CDG (other congenital disorders of glycosylation)
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), Congenital disorder of glycosylation, type IIm, OMIM:300896