Arthrogryposis
Gene: ACADVL
ACADVL (acyl-CoA dehydrogenase very long chain)
EnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 15 panels
0 reviews
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 609575
- Clinvar variants
- Variants in ACADVL
- Penetrance
- Complete
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- Hypertrophic cardiomyopathy
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Fetal anomalies
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
21 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ACADVL was created by ellenmcdonagh
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ACADVL was added to Arthrogryposispanel. Sources: Expert list