Congenital myopathy

Gene: LGI4

I don't know

Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off, gene not for CMY

Created: 3 Dec 2019, 3 p.m. | Last Modified: 3 Dec 2019, 3 p.m.

Panel Version: 1.199

Comment on list classification: Changed from Amber to Green due to clincial review

Created: 30 Aug 2017, 11:36 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, 2:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY

Publications

• 28318499
• 15857855
• 16341215