CHRNB1

cholinergic receptor nicotinic beta 1 subunit
OMIM: 100710, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green CHRNB1 in Neuromuscular disorders Version 5.255 Latest signed off version: v5.43 (4 Mar 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 fast channel myasthenic syndrome Myasthenic syndrome, slow-channel congenital, 601462 Acetylcholine receptor deficiency syndrome Slow channel myasthenic syndrome Congenital Myasthenic Syndrome, Dominant/Recessive
Green CHRNB1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.137 Latest signed off version: v3.2 (13 Feb 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Phenotypes Congenital Myasthenic Syndrome, Dominant/Recessive Myasthenic syndrome, slow-channel congenital, 601462
Green CHRNB1 in Congenital myaesthenic syndrome Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 2.38 Latest signed off version: v2.2 (2 Mar 2020) Component of the following Super Panels: Hypotonic infant 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, 2C, associated with acetylcholine receptor deficiency, OMIM:616314 Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313 Tags deletions
Amber CHRNB1 in Fetal anomalies Version 1.749 Latest signed off version: v1.92 (21 Aug 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313 ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 Tags for-review
Green CHRNB1 in Severe Paediatric Disorders Version 1.84	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313 ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314