Congenital myaesthenic syndrome
Gene: CHRNDComment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;?Myasthenic syndrome, congenital, 3A, slow-channel, 616321;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323;Myasthenic syndrome, congenital, 3B, fast-channel, 616322Created: 22 Mar 2021, 1:17 p.m. | Last Modified: 22 Mar 2021, 1:17 p.m.
Panel Version: 2.17
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 30 Apr 2019, 9:30 a.m.
see PanelAppCreated: 29 Apr 2019, 4:33 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322
Comment when marking as ready: Green review plus >3 cases of CHRND mutations causing Congenital Myasthenic Syndromes (OMIM:616321, 616323 and 616322).Created: 26 Jan 2017, 3:57 p.m.
Comment on mode of pathogenicity: The 'Slow-channel' form of myasthenic syndrome results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel (gain of function).Created: 26 Jan 2017, 3:52 p.m.
Comment on mode of inheritance: Mode of inheritance for CHRND is biallelic for the fast-channel myasthenic syndrome (OMIM:616322) and AChR deficiency (OMIM:616323), and monoallelic for the slow-channel myasthenic syndrome (OMIM:616321).Created: 26 Jan 2017, 3:52 p.m.
Comment on phenotypes: UKGTN test include CHRND on their panel for Myasthenic syndrome, slow-channel congenital, 601462.Created: 26 Jan 2017, 3:46 p.m.
Mutations in CHRND can cause slow channel congenital myasthenic syndrome which is autosomal dominant and results in a gain of function; fast channel congenital myasthenic syndrome which is autosomal recessive; and AChR deficiency syndrome. The Acetylcholine receptor deficiency syndrome can mimic the deficiency syndrome due to mutations in RAPSN with episodic respiratory crises associated with infections a common feature.
Covered by the Oxford Congenital Myasthenia ServiceCreated: 24 Jan 2017, 4:59 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CHRND were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 to ?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
Publications for gene: CHRND were set to 16916845 11782989 11435464
Source NHS GMS was added to CHRND.
Source Wessex and West Midlands GLH was added to CHRND. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Publications for CHRND were set to 16916845 11782989 11435464
Mode of pathogenicity for CHRND was changed to Other - please provide details in the comments
Mode of inheritance for CHRND was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for CHRND were set to Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322
CHRND was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen
CHRND was added to Congenital myaestheniapanel. Sources: UKGTN
CHRND was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory
CHRND was added to Congenital myaestheniapanel. Sources: Illumina TruGenome Clinical Sequencing Services