CHRND

cholinergic receptor nicotinic delta subunit
OMIM: 100720, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
No list CHRND in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Multiple pterygium syndrome, lethal type, MIM#253290
Green CHRND in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 Myasthenic syndrome, congenital, 3B, fast-channel, 616322 fast channel myasthenic syndrome Myasthenic syndrome, slow-channel congenital, 601462 Acetylcholine receptor deficiency syndrome Slow channel myasthenic syndrome Congenital Myasthenic Syndrome, Dominant/Recessive
Green CHRND in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Multiple pterygium syndrome, lethal type, OMIM:253290
Green CHRND in Congenital myaesthenic syndrome Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare 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 UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321 ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323 Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322
Red CHRND in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.32 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myasthenic syndrome, congenital, 3A, slow-channel, 616321 Congenital myasthenic syndrome
Green CHRND in Fetal anomalies Version 3.157 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Several associated, probably most relevant is lethal multiple pterygium syndrome 253290
Green CHRND in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 Multiple pterygium syndrome, lethal type, 253290 Myasthenic syndrome, congenital, 3B, fast-channel, 616322