Genomics England
GMS Panels
Panels
Genes and Entities

USH1C

USH1 protein network component harmonin
OMIM: 605242
PanelMode of inheritanceDetails
2 panels
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonsyndromic Hearing Loss, Recessive, Acadian and Samaritan variety Usher syndrome, type 1C, 276904, hearing loss, Deafness, autosomal recessive 18A, 602092
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders