Paediatric or syndromic cardiomyopathy
Gene: HADHB
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.
Phenotypes
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD); Mitochondrial Trifunctional Protein deficiency; Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM
Publications
Source NHS GMS was added to HADHB.
gene: HADHB was added gene: HADHB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 27604308 Phenotypes for gene: HADHB were set to Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD); Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; Mitochondrial Trifunctional Protein deficiency; HCM