Arthrogryposis
Gene: AGL
AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)
EnsemblGeneIds (GRCh38): ENSG00000162688
EnsemblGeneIds (GRCh37): ENSG00000162688
OMIM: 610860, Gene2Phenotype
AGL is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000162688
EnsemblGeneIds (GRCh37): ENSG00000162688
OMIM: 610860, Gene2Phenotype
AGL is in 15 panels
0 reviews
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 610860
- Clinvar variants
- Variants in AGL
- Penetrance
- Complete
- Panels with this gene
-
- Glycogen storage disease
- Intellectual disability
- Hypertrophic cardiomyopathy
- Acute rhabdomyolysis
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- DDG2P
- Rhabdomyolysis and metabolic muscle disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Arthrogryposis
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Paediatric or syndromic cardiomyopathy
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
Added New Source
Ellen McDonagh (Genomics England Curator)AGL was added to Arthrogryposispanel. Sources: Expert list
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)AGL was created by ellenmcdonagh