Previous cardiomyopathies - including childhood onset
Gene: HADHB
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 MetBioNet was added to HADHB. Added phenotypes Mitochondrial Trifunctional Protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD); Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM for gene: HADHB
Source London South GLH was added to HADHB.
Eleanor Williams: Note: no phenotype in the sour
gene: HADHB was added gene: HADHB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green 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 Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015