No known association with arthrogryposis
Created: 4 Jan 2017, 1:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
Mode of inheritance for ALG2 was changed to BIALLELIC, autosomal or pseudoautosomal
ALG2 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory
ALG2 was created by ellenmcdonagh
ALG2 was added to Arthrogryposispanel. Sources: Expert list