Genomics England
GMS Panels
Panels
Genes and Entities

SLC35A1

solute carrier family 35 member A1
OMIM: 605634
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 3.1
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 Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
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)
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIf, 603585, intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria