Possible mitochondrial disorder - nuclear genes
Gene: SLC25A42Comment on phenotypes: Updated as phenotype added to OMIM in May 2019.Created: 27 Jun 2019, 3:25 p.m. | Last Modified: 27 Jun 2019, 3:25 p.m.
Panel Version: 0.204
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
No OMIM phenotype
Publications
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
Phenotypes for gene: SLC25A42 were changed from No OMIM phenotype to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416
gene: SLC25A42 was added gene: SLC25A42 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A42 were set to 26541337; 29923093; 29327420 Phenotypes for gene: SLC25A42 were set to No OMIM phenotype