Arthrogryposis
Gene: ALG2EnsemblGeneIds (GRCh38): ENSG00000119523
EnsemblGeneIds (GRCh37): ENSG00000119523
OMIM: 607905, Gene2Phenotype
ALG2 is in 9 panels
1 review
Alice Gardham (Genomics England)
No known association with arthrogryposisCreated: 4 Jan 2017, 1:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
- OMIM
- 607905
- Clinvar variants
- Variants in ALG2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for ALG2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ALG2 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)ALG2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ALG2 was added to Arthrogryposispanel. Sources: Expert list