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 4.0
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 Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
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 - targeted testing not possible
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 4.0
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)