CHRNG

cholinergic receptor nicotinic gamma subunit
OMIM: 100730, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
No list CHRNG in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Multiple pterygium syndrome, lethal type, MIM#253290
Green CHRNG in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes escobar syndrome Neonatal congenital myasthenia multiple pterygium syndrome/MPS Myasthenia gravis, neonatal transient fetal akinesia deformation sequence syndrome/FADS
Green CHRNG in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Expert list Phenotypes Escobar syndrome 265000 Multiple pterygium syndrome, lethal type 253290 Myasthenia gravis, neonatal transient (2)
Green CHRNG in Congenital myaesthenic syndrome Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes transient neonatal myasthenia gravis, MONDO:0018326
Green CHRNG in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT
Green CHRNG in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
Green CHRNG in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.110 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Escobar syndrome, 265000 MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE Multiple pterygium syndrome, lethal type, 253290 PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
Red CHRNG in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Myasthenia gravis, neonatal transient Escobar syndrome, 265000 Multiple pterygium syndrome, lethal type, 253290
Green CHRNG in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Multiple pterygium syndrome, lethal type, 253290 Escobar syndrome, 265000