Genomics England
GMS Panels
Panels
Genes and Entities

RAPSN

receptor associated protein of the synapse
OMIM: 601592
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 7.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Myasthenic Syndrome, Recessive, Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency,
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931, FETAL AKINESIA DEFORMATION SEQUENCE 208150
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FETAL AKINESIA DEFORMATION SEQUENCE, CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY