CHRNG

cholinergic receptor nicotinic gamma subunit
OMIM: 100730
PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 3.2
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Escobar syndrome, 265000, MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE, Multiple pterygium syndrome, lethal type, 253290, PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenia gravis, neonatal transient, Neonatal congenital myasthenia, escobar syndrome, fetal akinesia deformation sequence syndrome/FADS, multiple pterygium syndrome/MPS
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT