FAH

fumarylacetoacetate hydrolase
OMIM: 613871, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green FAH in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Tyrosinaemia, Type 1, 276700
  • Cholestasis

Amber FAH in Hypophosphataemia or rickets


Version 2.14
Latest signed off version: v2.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Tyrosinemia, type I, OMIM:276700, MONDO:0010161
Tags
  • for-review

Green FAH in Cholestasis


Version 1.87
Latest signed off version: v1.21 (20 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neonatal and Adult Cholestasis
  • Tyrosinaemia, Type 1, 276700
  • Cholestasis

Green FAH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.486

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Tyrosinemia, type I 276700

Green FAH in Inborn errors of metabolism


Version 2.180
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Tyrosinemia, type I

    Green FAH in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TYROSINEMIA TYPE 1

    Green FAH in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TYROSINEMIA TYPE 1 276700

    Green FAH in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.415

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Tyrosinemia, type I, 276700
    • Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP

    Green FAH in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.27
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    Phenotypes
    • Tyrosinemia, type I 276700

    Red FAH in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • TYROSINEMIA TYPE 1

    Green FAH in Cardiomyopathies - including childhood onset


    Version 1.54
    Latest signed off version: v1.4 (19 Feb 2020)

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

    Amber FAH in Hereditary neuropathy NOT PMP22 copy number


    Version 1.61
    Latest signed off version: v1.36 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP
    • Tyrosinemia, type I, 276700

    Red FAH in Childhood onset dystonia or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green FAH in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tyrosinemia, type I, 276700