PanelApp
  1. Genes and Genomic Entities
  2. FAH

FAH

fumarylacetoacetate hydrolase
OMIM: 613871, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green FAH in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Tyrosinaemia, type I, MIM# 276700
    Tags
    • treatable

    Green FAH in Hyperinsulinism


    Level 2: Endocrine disorders
    Version 1.49

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Tyrosinemia type I MONDO:0010161

    Green FAH in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Tyrosinemia type I MONDO:0010161
    Tags
    • treatable

    Green FAH in Calcium and Phosphate disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 1.29

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Tyrosinemia, type I, MIM# 276700

    Green FAH in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Tyrosinemia, type I, MIM# 276700
    Tags
    • treatable

    Green FAH in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Tyrosinemia, type I, 276700 (3)

    Green FAH in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • NHS GMS
    Phenotypes
    • HCM
    • Tyrosinaemia type 1 (fumarylactoacetase deficiency)
    • Liver failure, vomiting, renal tubulopathy
    • Tyrosinemia, type I
    Tags
    • treatable

    Green FAH in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Tyrosinemia, type I

    Green FAH in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.30

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tyrosinemia, type I, MIM#276700
    Tags
    • treatable

    Red FAH in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Tyrosinemia, type I, MIM#276700

    Green FAH in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Tyrosinemia, type I, 276700 (3)

    Green FAH in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • tyrosinemia type I MONDO:0010161

    Green FAH in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Tyrosinaemia, type I, MIM#276700
    Tags
    • treatable
    • metabolic

    Green FAH in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Tyrosinemia type I MONDO:0010161

    Green FAH in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Tyrosinaemia, type I, MIM# 276700