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Possible mitochondrial disorder - nuclear genes

Gene: SLC25A3

Green List (high evidence)

SLC25A3 (solute carrier family 25 member 3)
EnsemblGeneIds (GRCh38): ENSG00000075415
EnsemblGeneIds (GRCh37): ENSG00000075415
OMIM: 600370, Gene2Phenotype
SLC25A3 is in 7 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

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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