CHRNA1

cholinergic receptor nicotinic alpha 1 subunit
OMIM: 100690, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green CHRNA1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CHRNA1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290
Green CHRNA1 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668 Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462 Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 Tags treatable
Green CHRNA1 in Multiple pterygium syndrome_Fetal akinesia sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	1 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
Amber CHRNA1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital myopathy MONDO:0019952
Green CHRNA1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.42 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156
Green CHRNA1 in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.10 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 1B, fast-channel, 608930 Myasthenic syndrome, congenital, 1A, slow-channel, 601462 Tags treatable
Green CHRNA1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple pterygium syndrome, lethal type, 253290 (3)
Green CHRNA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome
Green CHRNA1 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462 Tags treatable
Green CHRNA1 in Fetal anomalies Version 1.313	1 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 CHRNA1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple pterygium syndrome, lethal type, MIM#253290 Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Green CHRNA1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462 Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 Tags treatable neurological