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Inborn errors of metabolism

Gene: SLC52A1

Red List (low evidence)

SLC52A1 (solute carrier family 52 member 1)
EnsemblGeneIds (GRCh38): ENSG00000132517
EnsemblGeneIds (GRCh37): ENSG00000132517
OMIM: 607883, Gene2Phenotype
SLC52A1 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Only one variant reported.
Created: 6 Feb 2017, 4:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

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: SLC52A1 was added gene: SLC52A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC52A1 were set to 21089064 Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency 615026