Limb girdle muscular dystrophy

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 15 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 5:18 p.m. | Last Modified: 28 Nov 2019, 5:18 p.m.
Panel Version: 1.165
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Created: 28 Nov 2019, 5:18 p.m. | Last Modified: 28 Nov 2019, 5:18 p.m.
Panel Version: 1.164

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

metabolic myopathy but differential diagnosis with LGMD
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
overlap phenotype with LGMD
Created: 10 May 2019, 3:55 p.m.
1) severe neonatal/early-childhood onset form presenting with cardiomyopathy, hepatic disease and hypotonia with high mortality in infancy, 2) milder childhood onset form with hypoketotic hypoglycaemia, hypotonia with or without hepatic disease and 3) adult-onset form presenting with exercise intolerance, muscle cramps and rhabdomyolisis
Created: 10 May 2019, 3:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
metabolic myopathy; rhabdomyolsis

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
VLCAD deficiency, 201475

Publications

History Filter Activity

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ACADVL was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: acadvl has been classified as Green List (High Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACADVL.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ACADVL.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ACADVL were changed from VLCAD deficiency, 201475 to VLCAD deficiency, 201475; metabolic myopathy; rhabdomyolsis

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ACADVL were set to 7668252; 27246109

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ACADVL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes VLCAD deficiency, 201475 for gene: ACADVL Publications for gene ACADVL were changed from to 7668252; 27246109

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACADVL was added gene: ACADVL was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: ACADVL was set to