Structural eye disease
Gene: SLC25A24
Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.Created: 20 Dec 2023, 11:36 a.m. | Last Modified: 20 Dec 2023, 11:36 a.m.
Panel Version: 3.72
There are six unrelated cases reported in total, of which five cases had c.650G>A (p.Arg217His) variant and one patient had c.649C>T (p.Arg217Cys). Both these variants are on the same amino acid. However, these cases were from people of multiple descent/ geographic locations. Experiments from patient-derived fibroblasts demonstrated that SLC25A24 variants lead to mitochondrial dysfunction with increased sensitivity to oxidative stress.
Created: 20 Dec 2023, 11:07 a.m. | Last Modified: 20 Dec 2023, 11:33 a.m.
Panel Version: 3.69
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fontaine progeroid syndrome, OMIM:612289
Publications
PMID: 31775791 - case study of a girl with this syndrome including microphthalmia - one of the same variants as in previous paper (p.Arg217His) found to be de novoCreated: 24 Nov 2023, 11:06 a.m. | Last Modified: 24 Nov 2023, 11:06 a.m.
Panel Version: 3.58
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fontaine progeroid syndrome
Publications
Ehmke 2017: Same denovo missense mutation in 5 unrelated cases with Gorlin-Chaudhry-Moss syndrome (GCMS). The syndrome is characterised by distinctive facial gestalt. The Table groups Microphthalmia (HP:0000568) and hyperopia (HP:0000540) in one eye-phenotype category. Writzl 2017 does not mention eye phenotypes.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Phenotypes
Gorlin-Chaudhry-Moss Syndrome, GCMS
Gene: slc25a24 has been classified as Amber List (Moderate Evidence).
Publications for gene: SLC25A24 were set to 29903433; 29100093; 29100094
Mode of inheritance for gene: SLC25A24 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q4_23_NHS_review tag was added to gene: SLC25A24.
Tag Q4_23_promote_green tag was added to gene: SLC25A24.
Publications for gene: SLC25A24 were set to 29100093
Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss Syndrome, GCMS; Fontaine progeroid syndrome, 612289 to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Source NHS GMS was added to SLC25A24. Publications for gene SLC25A24 were changed from to 29100093
Source Expert Review Amber was added to SLC25A24. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: SLC25A24 was added gene: SLC25A24 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss Syndrome, GCMS; Fontaine progeroid syndrome, 612289