CHRNE

cholinergic receptor nicotinic epsilon subunit
OMIM: 100725, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green CHRNE in Neuromuscular disorders Version 5.352 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, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Myasthenic syndrome, congenital, 4A, slow-channel, 605809 fast channel myasthenic syndrome Myasthenic syndrome, slow-channel congenital, 601462 Acetylcholine receptor deficiency syndrome Reduced channel conductance syndrome Slow channel myasthenic syndrome Congenital Myasthenic Syndrome, Dominant/Recessive
Green CHRNE in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.161 Latest signed off version: v3.2 (13 Feb 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel 605809 Myasthenic syndrome, congenital, 4B, fast-channel 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931
Green CHRNE in Congenital myaesthenic syndrome Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 2.40 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 Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809 Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Green CHRNE in Fetal anomalies Version 1.880 Latest signed off version: v1.92 (21 Aug 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, 605809 Myasthenic syndrome, congenital, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
Green CHRNE in Severe Paediatric Disorders Version 1.127	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Myasthenic syndrome, congenital, 4A, slow-channel, 605809