Arthrogryposis
Gene: ACADM
ACADM (acyl-CoA dehydrogenase medium chain)
EnsemblGeneIds (GRCh38): ENSG00000117054
EnsemblGeneIds (GRCh37): ENSG00000117054
OMIM: 607008, Gene2Phenotype
ACADM is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000117054
EnsemblGeneIds (GRCh37): ENSG00000117054
OMIM: 607008, Gene2Phenotype
ACADM is in 14 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: No association with arthrogryposisCreated: 4 Jan 2017, 1:34 p.m.
Comment on list classification: No association with arthrogryposisCreated: 4 Jan 2017, 1:34 p.m.
Comment on list classification: No association with arthrogryposisCreated: 4 Jan 2017, 1:34 p.m.
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 607008
- Clinvar variants
- Variants in ACADM
- Penetrance
- Complete
- Panels with this gene
-
- Arthrogryposis
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing
- Sudden death in young people
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
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.
4 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
4 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
4 Jan 2017, 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: 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
Added New Source
Ellen McDonagh (Genomics England Curator)ACADM was added to Arthrogryposispanel. Sources: Expert list
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ACADM was created by ellenmcdonagh