FAH

fumarylacetoacetate hydrolase
OMIM: 613871
PanelMode of inheritanceDetails
5 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neonatal and Adult Cholestasis, Tyrosinaemia, Type 1, 276700, Cholestasis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TYROSINEMIA TYPE 1 276700
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TYROSINEMIA TYPE 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I
R-numbers: R198
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I 276700