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Inborn errors of metabolism

Gene: SLC25A20

Green List (high evidence)

SLC25A20 (solute carrier family 25 member 20)
EnsemblGeneIds (GRCh38): ENSG00000178537
EnsemblGeneIds (GRCh37): ENSG00000178537
OMIM: 613698, Gene2Phenotype
SLC25A20 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency 212138
  • Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
OMIM
613698
Clinvar variants
Variants in SLC25A20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC25A20. Source London North GLH was added to SLC25A20.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC25A20 was added gene: SLC25A20 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 27604308 Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)