EYA1

EYA transcriptional coactivator and phosphatase 1
OMIM: 601653
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
BRANCHIOOTORENAL SYNDROME 1, BOR1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOTORENAL SYNDROME TYPE 1 113650, OTOFACIOCERVICAL SYNDROME 166780
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOTORENAL SYNDROME TYPE 1
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hearing loss, #113650:Branchiootorenal syndrome 1, with or without cataracts, Anterior segment anomalies with or without cataract, 113650, Branchiootic syndrome 1, 602588, Otofaciocervical syndrome, 166780
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Branchiootorenal syndrome 1, with or without cataracts, 113650, Otofaciocervical syndrome, 166780, Branchiootic syndrome 1, 602588, Branchiootorenal syndrome 1, with or without cataracts, Branchiootorenal Spectrum Disorders, Anterior segment anomalies with or without cataract, 113650