Corneal abnormalities
Gene: MED25Comment 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.
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
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for MED25 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome 616449
Publications for MED25 were set to 25792360;25527630
Publications for MED25 were set to 25792360
Phenotypes for MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome 616449
MED25 was created by ellenmcdonagh
MED25 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel