CHRNE

cholinergic receptor nicotinic epsilon subunit
OMIM: 100725, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CHRNE in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red CHRNE in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.328	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital myasthenic syndromes
Green CHRNE in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 4A, slow-channel, 605809 Tags treatable
Amber CHRNE in Multiple pterygium syndrome_Fetal akinesia sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital myasthenia, multiple types
Green CHRNE in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 4A, slow-channel, 605809 Tags treatable
Green CHRNE in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Green CHRNE in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome
Green CHRNE in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, MIM# 616324 Tags treatable
Green CHRNE in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services 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 Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809 Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931
Green CHRNE in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 4A, slow-channel, 605809 Tags treatable neurological
Green CHRNE in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809 Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931