Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: ACADVL

Amber List (moderate evidence)

ACADVL (acyl-CoA dehydrogenase very long chain)
EnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 13 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Some phenotypic overlap in view of reports of raised CK, and some individuals having clinical diagnosis of LGMD.
Created: 29 Jun 2020, 10:14 a.m. | Last Modified: 29 Jun 2020, 10:14 a.m.
Panel Version: 0.21

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 9546340 - 4/15 patients developed elevated CK levels and rhabdomyolysis within the first year of life. No mention of myopathy or specific dystrophic features.

PMID: 32558070 - 6 unrelated patients with adult-onset VLCAD deficiency. 4/6 had muscle weakness of the neck flexion, arms abduction and elbow flexion. CK levels varied among the patients, though most were elevated.
Four patients had an EMG showed myopathic changes of the upper and lower limbs, one did not report muscle weakness.
Only 1/6 patients were reported with significant changes on muscle MRI.

PMID: 22097235 - One 18 year old patient with persistent muscle cramps, elevated CK levels. Patient was diagnosed with limb girdle MD, at 21 years old struggled to climb stairs or walk

PMID: 24305961 - 8/12 patients reported either muscle pain and/or exercise intolerance, 9/12 had elevated CK levels. VLCADD patients showed predominantly proximal T1W SI changes.

Summary: dystrophic changes have been reported but does not appear to be a common feature
Sources: Expert list
Created: 29 Jun 2020, 2:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
VLCAD deficiency 201475

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Rhabdomyolysis is a prominent feature of the adult-onset form of this condition.
Sources: Expert list
Created: 12 Feb 2020, 2:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
VLCAD deficiency MIM#201475

Publications

History Filter Activity

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acadvl has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acadvl has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: ACADVL was added gene: ACADVL was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to PMID: 9546340; 32558070; 22097235; 24305961 Phenotypes for gene: ACADVL were set to VLCAD deficiency 201475 Review for gene: ACADVL was set to AMBER