Genomics England
GMS Panels
Panels
Genes and Entities

CHRNG

cholinergic receptor nicotinic gamma subunit
OMIM: 100730
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Escobar syndrome 265000, Multiple pterygium syndrome, lethal type 253290, Myasthenia gravis, neonatal transient (2)
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Escobar syndrome, 265000, MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE, Multiple pterygium syndrome, lethal type, 253290, PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
transient neonatal myasthenia gravis, MONDO:0018326
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT