Neuromuscular arthrogryposis
Gene: CHRNA1
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: 28 Apr 2019, 6:36 p.m.
3 families; mutations of other AChR subunits cause similarCreated: 28 Apr 2019, 6:34 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
253290; Multiple pterygium syndrome, lethal type
Publications
Source NHS GMS was added to CHRNA1.
Phenotypes for gene: CHRNA1 were changed from Multiple pterygium syndrome, lethal type; 253290 to Multiple pterygium syndrome, lethal type, 253290
Source Expert Review Green was added to CHRNA1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CHRNA1 was added gene: CHRNA1 was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CHRNA1 were set to 18252226 Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type; 253290