Unexplained kidney failure in young people
Gene: EYA1EnsemblGeneIds (GRCh38): ENSG00000104313
EnsemblGeneIds (GRCh37): ENSG00000104313
OMIM: 601653, Gene2Phenotype
EYA1 is in 12 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 12:32 p.m.
Comment on phenotypes: Also associated with Otofaciocervical syndrome 166780 and Branchiootic syndrome 1 602588Created: 4 Aug 2016, 12:31 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Branchiootorenal syndrome 1, with or without cataracts 113650
- 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for EYA1 were set to Branchiootorenal syndrome 1, with or without cataracts 113650
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for EYA1 were set to Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; Otofaciocervical syndrome, 166780; Branchiootorenal Spectrum Disorders
Added New Source
Sarah Leigh (Genomics England Curator)EYA1 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)EYA1 was created by sleigh