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Possible mitochondrial disorder - nuclear genes

Gene: SLC25A20

Red List (low evidence)

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

1 review

Ivone Leong (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: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Carnitine-acylcarnitine translocase deficiency, 212138

History Filter Activity

4 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: SLC25A20 was added gene: SLC25A20 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, 212138