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Cardiomyopathies - including childhood onset

Gene: FAH

Green List (high evidence)

FAH (fumarylacetoacetate hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 14 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.
Created: 18 Apr 2019, 11:53 a.m.

Phenotypes
Tyrosinaemia type 1 (fumarylactoacetase deficiency); Liver failure, vomiting, renal tubulopathy; HCM

Publications

  • National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp

Details

Mode of Inheritance
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
OMIM
613871
Clinvar variants
Variants in FAH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FAH.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: FAH was added gene: FAH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 27604308 Phenotypes for gene: FAH were set to Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I; Tyrosinaemia type 1 (fumarylactoacetase deficiency); HCM