Corneal abnormalities
Gene: MED25

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group and should be red until further studies are published.
Created: 22 Feb 2017, 10:55 a.m.

Comment on list classification: One homozygous variant described for Basel-Vanagait-Smirin-Yosef syndrome from 4 families living in the same village in Isreal; carrier rate was consistent with a founder effect.
Created: 21 Feb 2017, 10:38 a.m.

Created: 21 Feb 2017, 10:38 a.m.

Panel version: 0.111

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Basel-Vanagait-Smirin-Yosef syndrome

Publications

25792360

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
GDL Corneal Abnormalities panel

Phenotypes

Basel-Vanagait-Smirin-Yosef syndrome 616449

Tags

founder-effect

OMIM

610197

Clinvar variants

Variants in MED25

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 1

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

22 Feb 2017, Gel status: 1