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  3. SLC25A24
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Likely inborn error of metabolism

Gene: SLC25A24

Amber List (moderate evidence)
SLC25A24 (solute carrier family 25 member 24)
EnsemblGeneIds (GRCh38): ENSG00000085491
EnsemblGeneIds (GRCh37): ENSG00000085491
OMIM: 608744, Gene2Phenotype
SLC25A24 is in 8 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: SLC25A24 has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/SLC25A24/) as detailed in the below reviews copied from that panel.

As there is sufficient evidence available for the gene-disease association, this gene can be promoted to green rating on this panel in the next GMS update.
Created: 9 Jun 2025, 5:40 p.m. | Last Modified: 9 Jun 2025, 5:40 p.m.
Panel Version: 8.44

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 9 Jun 2025, 5:38 p.m.
Last Modified: 9 Jun 2025, 5:38 p.m.
Panel version: 8.43

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 23 Mar 2020, 3:32 a.m.
Last Modified: 23 Mar 2020, 3:32 a.m.
Copied from panel: Mitochondrial disorders v9.19

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 10:34 a.m. | Last Modified: 2 May 2024, 10:34 a.m.
Panel Version: 6.3
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

Created: 5 Aug 2019, 10:38 a.m.
Last Modified: 1 Aug 2023, 4:39 p.m.
Copied from panel: Mitochondrial disorders v9.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert list
Phenotypes
  • Fontaine progeroid syndrome, OMIM:612289
  • Fontaine progeroid syndrome, MONDO:0012853
Tags
Q2_25_ promote_green
OMIM
608744
Clinvar variants
Variants in SLC25A24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: slc25a24 has been classified as Amber List (Moderate Evidence).

9 Jun 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: SLC25A24.

9 Jun 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SLC25A24 was added gene: SLC25A24 was added to Likely inborn error of metabolism. Sources: Expert list,NHS GMS,Expert Review Green Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC25A24 were set to 29903433; 29100093; 29100094 Phenotypes for gene: SLC25A24 were set to Fontaine progeroid syndrome, OMIM:612289; Fontaine progeroid syndrome, MONDO:0012853