CHRNB1

cholinergic receptor nicotinic beta 1 subunit
OMIM: 100710, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CHRNB1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Green CHRNB1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Green CHRNB1 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, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Red CHRNB1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital myasthenic syndrome
Green CHRNB1 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, 2A, slow-channel, MIM# 616313
Green CHRNB1 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Green CHRNB1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BeginNGS Phenotypes Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314 Congenital myasthenic syndrome Tags treatable neurological