Mitochondrial disorders
Gene: SLC25A24
De novo heterozygous variants (R217H, R217C) identified in 9 unrelated cases. Functional analysis demonstrated that the variants affect mitochondrial morphology, and also suggested an impact on oxidative phosphorylation via decreased ATP synthesis and an increase in the mitochondrial membrane potential, thus creating conditions that are inhospitable to cell proliferation.Created: 23 Mar 2020, 3:32 a.m. | Last Modified: 23 Mar 2020, 3:32 a.m.
Panel Version: 2.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fontaine progeroid syndrome, MIM#612289
Publications
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 1 Aug 2023, 4:30 p.m. | Last Modified: 1 Aug 2023, 4:30 p.m.
Panel Version: 4.68
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in at least nine unrelated cases, together with supportive functional studies (PMID: 29100094; 29100093).Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 1 Aug 2023, 4:39 p.m.
Panel Version: 4.69
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fontaine progeroid syndrome 612289
Publications
Tag Q3_23_MOI was removed from gene: SLC25A24.
Mode of inheritance for gene: SLC25A24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q3_23_MOI tag was added to gene: SLC25A24.
Phenotypes for gene: SLC25A24 were changed from Fontaine progeroid syndrome 612289 to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Gene: slc25a24 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: SLC25A24.
Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome 612289
Publications for gene: SLC25A24 were set to
gene: SLC25A24 was added gene: SLC25A24 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC25A24 was set to