Cardiomyopathies - including childhood onsetGene: FAH
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
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.
Tyrosinaemia type 1 (fumarylactoacetase deficiency); Liver failure, vomiting, renal tubulopathy; HCM
Source NHS GMS was added to FAH.
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