Mitochondrial disorders
Gene: SLC25A42EnsemblGeneIds (GRCh38): ENSG00000181035
EnsemblGeneIds (GRCh37): ENSG00000181035
OMIM: 610823, Gene2Phenotype
SLC25A42 is in 6 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on phenotypes: Now in OMIM associated with the phenotype Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.Created: 5 Jun 2019, 11:29 a.m.
Sarah Leigh (Genomics England Curator)
Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. However, a founder variant has been reported in Arab populations (rs864321624), together with supportive functional studies. A rare additional variant has also been reported as a compound heterozygous with the founder variant.Created: 25 Apr 2019, 2:44 p.m.
Zornitza Stark (Australian Genomics)
15 individuals reported to date with bi-allelic variants in this gene. 14/15 had the same homozygous variant (founder effect in Arab population).Created: 1 Sep 2018, 3:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- mitochondrial myopathy
- Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416
- Tags
- OMIM
- 610823
- Clinvar variants
- Variants in SLC25A42
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: SLC25A42 were changed from mitochondrial myopathy to mitochondrial myopathy; Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: slc25a42 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC25A42 were changed from to mitochondrial myopathy
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SLC25A42 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC25A42 were set to
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SLC25A42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Sarah Leigh (Genomics England Curator)Tag founder-effect tag was added to gene: SLC25A42.
Added New Source
Sarah Leigh (Genomics England Curator)SLC25A42 was added to Mitochondrial disorders panel. Sources: Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)SLC25A42 was created by Sarah Leigh