Genomics England
GMS Panels
Panels
Genes and Entities

FAH

fumarylacetoacetate hydrolase
OMIM: 613871
PanelMode of inheritanceDetails
7 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
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 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TYROSINEMIA TYPE 1 276700
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TYROSINEMIA TYPE 1
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I, OMIM:276700, tyrosinemia type I, MONDO:0010161
Green
in Hypophosphataemia or rickets
R-numbers: R154
Signed-off version 3.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I, OMIM:276700, MONDO:0010161
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 4.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I 276700