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Molecular autopsy

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 7 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Riboflavin deficiency 615026
OMIM
607883
Clinvar variants
Variants in SLC52A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Riboflavin deficiency 615026 for gene: SLC52A1

20 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 Molecular autopsy. 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