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DDG2P

Gene: MED25

Green List (high evidence)
MED25 (mediator complex subunit 25)
EnsemblGeneIds (GRCh38): ENSG00000104973
EnsemblGeneIds (GRCh37): ENSG00000104973
OMIM: 610197, Gene2Phenotype
MED25 is in 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MED25-related Basel-Vanagaite-Smirin-Yosef syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 25527630, 25792360, 31602195, 32324310). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02957.
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 Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 25792360;32324310;31602195;25527630).
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
MONDO:0014643; MED25-related Basel-Vanagaite-Smirin-Yosef syndrome; Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449; OMIM:616449.0

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449
OMIM
610197
Clinvar variants
Variants in MED25
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: MED25 was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MED25 was added gene: MED25 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 31602195; 25792360; 25527630; 32324310 Phenotypes for gene: MED25 were set to Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449 Mode of pathogenicity for gene: MED25 was set to Other