Arthrogryposis
Gene: ABHD5
ABHD5 (abhydrolase domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000011198
EnsemblGeneIds (GRCh37): ENSG00000011198
OMIM: 604780, Gene2Phenotype
ABHD5 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000011198
EnsemblGeneIds (GRCh37): ENSG00000011198
OMIM: 604780, Gene2Phenotype
ABHD5 is in 12 panels
1 review
Alice Gardham (Genomics England)
No association with arthrogryposisCreated: 4 Jan 2017, 1:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chanarin-Dorfman syndrome 275630
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Chanarin-Dorfman syndrome 275630
- OMIM
- 604780
- Clinvar variants
- Variants in ABHD5
- Penetrance
- Complete
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
- Palmoplantar keratodermas
- 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
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for ABHD5 were set to Chanarin-Dorfman syndrome 275630
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)ABHD5 was created by ellenmcdonagh
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ABHD5 was added to Arthrogryposispanel. Sources: Expert list