Bilateral congenital or childhood onset cataracts
Gene: EYA1EnsemblGeneIds (GRCh38): ENSG00000104313
EnsemblGeneIds (GRCh37): ENSG00000104313
OMIM: 601653, Gene2Phenotype
EYA1 is in 12 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Poor evidence that cataracts are part of BOR.Created: 7 Jun 2016, 12:48 p.m.
Sarah Waller (Manchester Centre for Genomic Medicine)
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
- Azuma et al (2000) Hum mol Genet 9:363-366
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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
Details
- Sources
-
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Branchiootorenal syndrome 1, with or without cataracts, 113650
- Anterior segment anomalies with or without cataract, 113650
- Branchiootic syndrome 1, 602588
- Otofaciocervical syndrome, 166780
- OMIM
- 601653
- Clinvar variants
- Variants in EYA1
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Fetal anomalies
- Structural eye disease
- Monogenic hearing loss
- Clefting
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- CAKUT
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()EYA1 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()EYA1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen