CHRNA1

cholinergic receptor nicotinic alpha 1 subunit
OMIM: 100690, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
No list CHRNA1 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 CHRNA1 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myasthenic syndrome, congenital, 1B, fast-channel, 608930 Myasthenic syndrome, congenital, 1A, slow-channel, 601462 fast channel myasthenic syndrome Acetylcholine receptor deficiency syndrome Slow channel myasthenic syndrome Congenital Myasthenic Syndrome, Dominant/Recessive
Green CHRNA1 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Congenital Myasthenic Syndrome, Dominant/Recessive Myasthenic syndrome, slow-channel congenital, 601462Myasthenic syndrome, fast-channel congenital, 608930Multiple pterygium syndrome, lethal type, 253290
Green CHRNA1 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462 Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930
Green CHRNA1 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE Multiple pterygium syndrome, lethal type, 253290
Green CHRNA1 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE 253290
Green CHRNA1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Multiple pterygium syndrome, lethal type, 253290 Myasthenic syndrome, congenital, 1B, fast-channel, 608930 Myasthenic syndrome, congenital, 1A, slow-channel, 601462