Paediatric or syndromic cardiomyopathy
Gene: HADHBEnsemblGeneIds (GRCh38): ENSG00000138029
EnsemblGeneIds (GRCh37): ENSG00000138029
OMIM: 143450, Gene2Phenotype
HADHB is in 14 panels
2 reviews
Ivone Leong (Genomics England Curator)
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)
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
- 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
- London South GLH
- MetBioNet
- Expert Review Green
- MetBioNet
- London South GLH
- Expert Review Green
- Phenotypes
-
- 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
- OMIM
- 143450
- Clinvar variants
- Variants in HADHB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hyperammonaemia
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Acute rhabdomyolysis
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Arthrogryposis
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to HADHB.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)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