Paediatric or syndromic cardiomyopathy
Gene: ETFDH
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red 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.
Phenotypes
Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; HCM
Publications
Source Expert Review Red was added to ETFDH. Source NHS GMS was added to ETFDH. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: ETFDH was added gene: ETFDH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 24816252; 27604308 Phenotypes for gene: ETFDH were set to Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIC; Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; HCM