CAKUT
Gene: EYA1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Branchiootorenal Syndrome
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
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 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 Spectrum Disorders
This gene has been classified as Green List (High Evidence).
Mode of inheritance for EYA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene EYA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EYA1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene EYA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EYA1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
EYA1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services