Comment on list classification: Changed from Amber to Green after clinical review
Created: 30 Aug 2017, 11:31 a.m.
New gene/phenotype relationship(s) cataloged in OMIM. AMCNMY is severe neurologic disorder with onset in utero. Most affected individuals die in utero, subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints or die in the neonatal period. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect, Xue et al., 2017 PMID: 28318499. Evidence in 9 offspring from 4 unrelated families.
Need to check with clinical team if this gene should be on this panel. Noted that the disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect, Xue et al., 2017 PMID: 28318499.
Created: 17 Aug 2017, 2:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY
This gene has been classified as Green List (High Evidence).
LGI4 was added to Arthrogryposispanel. Sources: Literature,Other
LGI4 was created by LouiseD