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Inborn errors of metabolism

Gene: SLC35A3

Red List (low evidence)

SLC35A3 (solute carrier family 35 member A3)
EnsemblGeneIds (GRCh38): ENSG00000117620
EnsemblGeneIds (GRCh37): ENSG00000117620
OMIM: 605632, Gene2Phenotype
SLC35A3 is in 5 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Arthrogryposis, mental retardation, and seizures
OMIM
605632
Clinvar variants
Variants in SLC35A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC35A3 was added gene: SLC35A3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A3 were set to 24031089 Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures