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2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss 1

Mitochondrial disorders
Gene: SLC25A24

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

2 reviews

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.
Panel version: 2.5

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.
Panel version: 6.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS
Expert list

Phenotypes

Fontaine progeroid syndrome, OMIM:612289
Fontaine progeroid syndrome, MONDO:0012853

OMIM

608744

Clinvar variants

Variants in SLC25A24

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Jun 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SLC25A24 were changed from Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853 to Fontaine progeroid syndrome, OMIM:612289; Fontaine progeroid syndrome, MONDO:0012853

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: SLC25A24.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to SLC25A24. Source Expert Review Green was added to SLC25A24. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Jan 2024, Gel status: 2

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_MOI was removed from gene: SLC25A24.

23 Jan 2024, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: SLC25A24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Aug 2023, Gel status: 2