No evidence of arthrogryposis associated with TSEN34 mutations
Created: 22 Dec 2016, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia type 2C 612390
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 TSEN34 were set to Pontocerebellar hypoplasia type 2C 612390
TSEN34 was created by ellenmcdonagh
TSEN34 was added to Arthrogryposispanel. Sources: Expert list