Structural eye disease

Gene: SLC25A24

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.

Panel Version: 3.79

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

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

• 29100093
• 31775791

I don't know

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 novo

Created: 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

• 31775791

I don't know

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

• 29100093

Green List (high evidence)

Phenotypes
Gorlin-Chaudhry-Moss Syndrome, GCMS