Bilateral congenital or childhood onset cataracts
Gene: EYA1Comment on list classification: Poor evidence that cataracts are part of BOR.Created: 7 Jun 2016, 12:48 p.m.
Cataract associated mutations located in eyaHR region. Reduced penetrance and variable expressivity for this gene in BOR syndrome.Created: 25 May 2016, 8:10 a.m.
Phenotypes
Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780
Publications
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. This is a confirmed DD gene for Branchiootorenal syndrome type 1 and a possible DD gene for otofaciocervical syndrome. Two cases reported in OMIM with anterior segment anomalies and cataract, and branchiootorenal syndrome with cataract.Created: 25 Apr 2016, 9:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Anterior segment anomalies with or without cataract; Branchiootorenal syndrome 1 with or without cataracts
Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780 to Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; Otofaciocervical syndrome, 166780
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
EYA1 was added to Cataractspanel. Sources: UKGTN
EYA1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen