Possible mitochondrial disorder - nuclear genes
Gene: SLC25A3

SLC25A3 (solute carrier family 25 member 3)
EnsemblGeneIds (GRCh38): ENSG00000075415
EnsemblGeneIds (GRCh37): ENSG00000075415
OMIM: 600370, Gene2Phenotype
SLC25A3 is in 6 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high 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

Phenotypes
Mitochondrial phosphate carrier deficiency, 610773

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Review suggests this should be promoted from amber to green.
Created: 10 Feb 2016, 9:47 a.m.

Created: 10 Feb 2016, 9:47 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.93

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Mitochondrial phosphate carrier deficiency, 610773

OMIM

600370

Clinvar variants

Variants in SLC25A3

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SLC25A3 was added gene: SLC25A3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773

Possible mitochondrial disorder - nuclear genes Gene: SLC25A3