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 0.416	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red CHRNE in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	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 1.2302	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	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 1.10 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, 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 0.109	review	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	review	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 1.8	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 1.313	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 1.1566	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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	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 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)