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 6.1
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 4.15
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 4.195
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 4.51
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
Branchiootorenal syndrome 1, with or without cataracts, OMIM:113650