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DDG2P

Gene: SLC25A19

Green List (high evidence)
SLC25A19 (solute carrier family 25 member 19)
EnsemblGeneIds (GRCh38): ENSG00000125454
EnsemblGeneIds (GRCh37): ENSG00000125454
OMIM: 606521, Gene2Phenotype
SLC25A19 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 SLC25A19-related Amish lethal microcephaly are strong, biallelic_autosomal and undetermined (PMID:12185364). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00311.
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 AMISH LETHAL MICROCEPHALY, OMIM:607196 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:12185364).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AMISH LETHAL MICROCEPHALY, OMIM:607196; OMIM:607196.0; SLC25A19-related Amish lethal microcephaly; MONDO:0011790

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

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SLC25A19 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to SLC25A19. Mode of pathogenicity for gene SLC25A19 was changed from Other - please provide details in the comments to Other 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

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: SLC25A19 was added gene: SLC25A19 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A19 were set to 12185364 Phenotypes for gene: SLC25A19 were set to AMISH LETHAL MICROCEPHALY 216535 Mode of pathogenicity for gene: SLC25A19 was set to Other - please provide details in the comments