Mutations known to cause SMA with respiratory distress but this is associated with acquired rather than congenital contractures
Created: 5 Jan 2017, 9:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neuronopathy, distal hereditary motor, type VI 604320
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).
Publications for IGHMBP2 were set to 11528396
Phenotypes for IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI 604320
Mode of inheritance for IGHMBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
IGHMBP2 was created by ellenmcdonagh
IGHMBP2 was added to Arthrogryposispanel. Sources: Expert list