Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: RAPSNComment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 4:24 p.m. | Last Modified: 28 Nov 2019, 4:24 p.m.
Panel Version: 1.121
CMS gene.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome; Limb-girdle muscular dystrophy
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence 1, 208150
Publications
Gene: rapsn has been classified as Red List (Low Evidence).
Gene: rapsn has been classified as Red List (Low Evidence).
Source NHS GMS was added to RAPSN.
Source Yorkshire and North East GLH was added to RAPSN.
Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence 1, 208150 to Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy
Publications for gene: RAPSN were set to 18179903
Mode of inheritance for gene RAPSN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fetal akinesia deformation sequence 1, 208150 for gene: RAPSN Publications for gene RAPSN were changed from to 18179903
gene: RAPSN was added gene: RAPSN was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: RAPSN was set to