Arthrogryposis
Gene: HADHA
HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 18 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 5 Jan 2017, 9:03 a.m.
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 600890
- Clinvar variants
- Variants in HADHA
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Cholestasis
- Paediatric or syndromic cardiomyopathy
- Undiagnosed metabolic disorders
- Rhabdomyolysis and metabolic muscle disorders
- Hyperammonaemia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Arthrogryposis
- Hereditary neuropathy
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Acute rhabdomyolysis
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Intellectual disability
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.
5 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: 0
Added New Source
Ellen McDonagh (Genomics England Curator)HADHA was added to Arthrogryposispanel. Sources: Expert list
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)HADHA was created by ellenmcdonagh