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Cardiomyopathies - including childhood onset

Gene: ACADVL

Green List (high evidence)

ACADVL (acyl-CoA dehydrogenase very long chain)
EnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 16 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

James Eden (Manchester)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

  • 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

Rebecca Whittington (South West GLH)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • MetBioNet
  • Expert Review Green
  • Expert Review Green
  • MetBioNet
  • South West GLH
Phenotypes
  • 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
OMIM
609575
Clinvar variants
Variants in ACADVL
Penetrance
None
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
  • 27604308
  • 24285112
  • 9973285
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

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

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ACADVL.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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