CHRND

cholinergic receptor nicotinic delta subunit
OMIM: 100720, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CHRND in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CHRND 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 CHRND in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323 Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668 Tags treatable
Green CHRND 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 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668 Tags treatable
Green CHRND in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.10 Component of the following Super Panels: Neuromuscular Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323 Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321 Tags treatable
Green CHRND 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 Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)
Green CHRND in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome
Green CHRND in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myasthenic syndrome, congenital, 3B, fast-channel, MIM# 616322 Tags treatable
Green CHRND in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668
Green CHRND in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)
Green CHRND in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322 Multiple pterygium syndrome, lethal type, MIM# 253290 Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321 MONDO:0009668 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323 Tags treatable neurological