CHRNG

cholinergic receptor nicotinic gamma subunit
OMIM: 100730, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CHRNG in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009926 MONDO:0009668
Green CHRNG in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290
Green CHRNG in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009926 MONDO:0009668
Green CHRNG in Multiple pterygium syndrome_Fetal akinesia sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009926 MONDO:0009668
Green CHRNG in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.10 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 fetal akinesia deformation sequence syndrome/FADS Neonatal congenital myasthenia Escobar syndrome Myasthenia gravis, neonatal transient
Green CHRNG in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Escobar syndrome, 265000 (3)
Green CHRNG in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pterygium syndrome
Green CHRNG in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Expert list Phenotypes PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE Multiple pterygium syndrome, lethal type, 253290 Escobar syndrome, 265000
Green CHRNG in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009926 MONDO:0009668
Green CHRNG in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Escobar syndrome, 265000 (3)
Red CHRNG in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290
Green CHRNG in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Escobar syndrome, 265000 (3)