Only reported in one family
Created: 4 Jan 2017, 3:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?Myopathy, congenital, Compton-North 612540
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).
Mode of inheritance for CNTN1 was changed to BIALLELIC, autosomal or pseudoautosomal
CNTN1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen
CNTN1 was added to Arthrogryposispanel. Sources: Expert list
CNTN1 was created by ellenmcdonagh