CHRNB1

cholinergic receptor nicotinic beta 1 subunit
OMIM: 100710, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CHRNB1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 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 2.0	1 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 2.0	1 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 1.0	0 reviews	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 2.0	1 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 2.0	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 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