Mitochondrial disorders
Gene: SLC25A42Comment 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.
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.
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
Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337
Phenotypes for gene: SLC25A42 were changed from mitochondrial myopathy to mitochondrial myopathy; Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416
Gene: slc25a42 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC25A42 were changed from to mitochondrial myopathy
Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337
Mode of inheritance for gene: SLC25A42 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to
Mode of inheritance for gene: SLC25A42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag founder-effect tag was added to gene: SLC25A42.
SLC25A42 was added to Mitochondrial disorders panel. Sources: Victorian Clinical Genetics Services
SLC25A42 was created by Sarah Leigh