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  2. Likely inborn error of metabolism
  3. SLC25A2
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Likely inborn error of metabolism

Gene: SLC25A2

Red List (low evidence)
SLC25A2 (solute carrier family 25 member 2)
EnsemblGeneIds (GRCh38): ENSG00000120329
EnsemblGeneIds (GRCh37): ENSG00000120329
OMIM: 608157, Gene2Phenotype
SLC25A2 is in 2 panels

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

No phenotype associated with this gene in OMIM and in pubmed
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
Unknown

Phenotypes
Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)

Publications

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
OMIM
608157
Clinvar variants
Variants in SLC25A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC25A2. Source London North GLH was added to SLC25A2.

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: SLC25A2 was added gene: SLC25A2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC25A2 was set to Unknown Publications for gene: SLC25A2 were set to 27604308 Phenotypes for gene: SLC25A2 were set to Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)