TYR

PanelMode of inheritanceDetails
3 panels
R-numbers: R39
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Albinism, oculocutaneous, type IA, Waardenburg syndrome/albinism, digenic, Albinism, oculocutaneous, type IB, Oculocutaneous Albinism
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OCULOCUTANEOUS ALBINISM TYPE 1 203100
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALBINISM, OCULOCUTANEOUS, TYPE IA, Oculocutaneous albinism, OCA1B, OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB