Mitochondrial disorders
Gene: SLC25A3

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

2 reviews

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: 0.93

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert

Phenotypes

Mitochondrial phosphate carrier deficiency, 610773

OMIM

600370

Clinvar variants

Variants in SLC25A3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SLC25A3. Panel: Mitochondrial disorders

20 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773

20 Mar 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC25A3 were set to 27604308;17273968;25681081

20 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Feb 2016, Gel status: 2