Corneal abnormalities

Gene: MED25

Red List (low evidence)

MED25 (mediator complex subunit 25)
EnsemblGeneIds (GRCh38): ENSG00000104973
EnsemblGeneIds (GRCh37): ENSG00000104973
OMIM: 610197, Gene2Phenotype
MED25 is in 5 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.

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Basel-Vanagait-Smirin-Yosef syndrome

Publications

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

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

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

21 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

21 Feb 2017, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MED25 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Feb 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome 616449

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MED25 were set to 25792360;25527630

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MED25 were set to 25792360

21 Feb 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome 616449

19 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MED25 was created by ellenmcdonagh

19 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MED25 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel