Genomics England
GMS Panels
Panels
Genes and Entities

USH2A

usherin
OMIM: 608400
PanelMode of inheritanceDetails
2 panels
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hearing loss, Usher syndrome, type 2A, 276901, #613809:Retinitis pigmentosa 39
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, Usher syndrome, type 2A, Eye Disorders, Usher syndrome, type 2A, 276901Retinitis pigmentosa 39, 613809, Retinitis Pigmentosa, Recessive, Retinitis pigmentosa