Paediatric or syndromic cardiomyopathy
Gene: ACADVL
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
Cardiomyopathy is a common symptom of very long chain acyl-CoA dehydrogenase deficiency.Created: 3 Oct 2019, 12:29 p.m. | Last Modified: 3 Oct 2019, 12:29 p.m.
Panel Version: 0.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VLCAD deficiency 201475
Publications
Comment when marking as ready: Mode of inheritance for this gene for the phenotype described in the MetBioNet guideline checked against OMIM.Created: 18 Apr 2019, 11:58 a.m.
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
Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form); Liver disease, hepatomegaly, hypoketotic hypoglycaemia; HCM; DCM, mixed
Publications
OMIM#201475 VL chain acyl-CoA dehydrogenase deficiency.Created: 25 Mar 2019, 4:30 p.m.
Recommended testing for paediatric cardiomyopathy: Bowron & Olpin (2012). MetBioNet Best Practice Guidelines: Investigation of an inherited metabolic cause of cardiomyopathy. (www.metbio.net). Evans Mol Genet Metab 118 (2016) 282-287 - review of patients, early onset cardiomyopathy is one of key features.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: ACADVL were set to 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; 27604308
Source NHS GMS was added to ACADVL.
gene: ACADVL was added gene: ACADVL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 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; 27604308 Phenotypes for gene: ACADVL were set to VLCAD deficiency; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation); syndromic HCM; Liver disease, hepatomegaly, hypoketotic hypoglycaemia; Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form); DCM, mixed; HCM