Genomics England
GMS Panels
Panels
Genes and Entities

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 5.3
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 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOTORENAL SYNDROME TYPE 1
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
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
Green
in Unexplained young onset end-stage renal disease - additional genes
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Branchiootic syndrome 1, 602588, Otofaciocervical syndrome, 166780, Branchiootorenal syndrome 1, with or without cataracts, 113650, Branchiootorenal Spectrum Disorders, Anterior segment anomalies with or without cataract, 113650, Branchiootorenal syndrome 1, with or without cataracts