Genomics England
GMS Panels
Panels
Genes and Entities

SLC35A1

solute carrier family 35 member A1
OMIM: 605634
PanelMode of inheritanceDetails
4 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 8.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIf, 603585, CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIf, 603585, intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIf 603585, Congenital disorder of glycosylation, type Iif, 603585, CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)