Renal and urinary tract disorders
Gene: EYA1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Branchiootorenal Syndrome
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.
Well established genetic cause of a variety of renal tract malformations including renal agenesis, renal dysplasia and calyceal malformations/cysts. Testing available on the UK Gene Testing Network. Severity of renal disease can vary markedly between patients, even in one family.Created: 22 Apr 2016, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adrian Woolf: Well established genetic cause
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; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal Spectrum Disorders 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 syndrome 1, with or without cataracts; Branchiootorenal Spectrum Disorders
Added phenotypes Branchiootorenal syndrome 1, with or without cataracts for gene: EYA1
gene: EYA1 was added gene: EYA1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA1 were set to Branchiootorenal Spectrum Disorders; Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780