Genomics England
GMS Panels
Panels
Genes and Entities

TYR

tyrosinase
OMIM: 606933
PanelMode of inheritanceDetails
3 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Albinism, oculocutaneous, type IA, OMIM:203100, Albinism, oculocutaneous, type IB, OMIM:606952, Waardenburg syndrome/albinism, digenic, OMIM:103470
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OCULOCUTANEOUS ALBINISM TYPE 1 203100
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Albinism, oculocutaneous, type IA, OMIM:203100, Albinism, oculocutaneous, type IB, OMIM:606952, Waardenburg syndrome/albinism, digenic, OMIM:103470