Comment when marking as ready: No association with arthrogryposis
Created: 22 Dec 2016, 4:09 p.m.
Comment on list classification: Demoted from green to red due to expert review.
Created: 19 Dec 2016, 12:42 p.m.
not a CMD presentation
Created: 19 Dec 2016, 11:47 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Oculopharyngeal muscular dystrophy, 164300; Oculopharyngeal muscular dystrophy
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).
PABPN1 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,,Expert Review Red
PABPN1 was created by ellenmcdonagh