Congenital myaesthenic syndrome
Gene: LAMA5
Leave as Red, awaiting more information on this gene and potential disease association.Created: 16 Oct 2019, 1:42 p.m. | Last Modified: 16 Oct 2019, 1:42 p.m.
Panel Version: 1.70
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 30 Apr 2019, 9:30 a.m.
Maselli et al report hom missense variant (patient also hom for LAMA1 variant, not thought to be causal as fetally expressed)Created: 29 Apr 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: LAMA5 were changed from to myopia, facial tics, and failure of neuromuscular transmission
Mode of inheritance for gene: LAMA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene LAMA5 were changed from to 28544784
Source NHS GMS was added to LAMA5.
gene: LAMA5 was added gene: LAMA5 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LAMA5 was set to