TYR

PanelMode of inheritanceDetails
3 panels
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
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