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DDG2P

Gene: SLC25A4

Green List (high evidence)
SLC25A4 (solute carrier family 25 member 4)
EnsemblGeneIds (GRCh38): ENSG00000151729
EnsemblGeneIds (GRCh37): ENSG00000151729
OMIM: 103220, Gene2Phenotype
SLC25A4 is in 15 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A4-related severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number are strong, monoallelic_autosomal and undetermined (PMIDs: 27693233, 30046662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01880. The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A4-related Fontaine progeroid syndrome are strong, monoallelic_autosomal and undetermined (PMID:30329211). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02572.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Fontaine progeroid syndrome is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30329211). The DDG2P confidence category for the disease Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 30046662;27693233).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; SLC25A4-related severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number; SLC25A4-related Fontaine progeroid syndrome; MONDO:0014959; Fontaine progeroid syndrome; OMIM:617184.0; MONDO:0012853

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P on 08/11/2018: Fontaine progeroid syndrome. Rated probable in DDG2P for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome. DG2P mode of pathogenicity for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome: all missense/in frame.
Created: 27 Nov 2018, 10:20 a.m.
Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Fontaine progeroid syndrome

Publications

Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.9

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SLC25A4 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to SLC25A4. Mode of pathogenicity for gene SLC25A4 was changed from Other - please provide details in the comments to Other Publications for gene: SLC25A4 were updated from 30046662; 27693233; 30329211 to 27693233; 30046662; 30329211 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

8 Jan 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC25A4 were set to 27693233

27 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Fontaine progeroid syndrome

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SLC25A4 was added gene: SLC25A4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27693233 Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number Mode of pathogenicity for gene: SLC25A4 was set to Other - please provide details in the comments