Congenital myaesthenic syndrome
Gene: CHRNEComment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Myasthenic syndrome, congenital, 4A, slow-channel, 605809;Myasthenic syndrome, congenital, 4B, fast-channel, 616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Reduced channel conductance syndromeCreated: 22 Mar 2021, 1:20 p.m. | Last Modified: 22 Mar 2021, 1:20 p.m.
Panel Version: 2.18
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; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome
Comment when marking as ready: Green review plus >3 cases of CHRNE mutations causing Congenital Myasthenic Syndromes.Created: 26 Jan 2017, 4:16 p.m.
Comment on phenotypes: UKGTN test include CHRNE on their panel for Myasthenic syndrome, slow-channel congenital, 601462.Created: 26 Jan 2017, 4:14 p.m.
Comment on mode of inheritance: Mode of inheritance for CHRNE is biallelic for the fast-channel myasthenic syndrome (OMIM:616324) and AChR deficiency (OMIM:608931), and both biallelic and monoallelic for the slow-channel myasthenic syndrome (OMIM:605809); also see David Beeson's comments.Created: 26 Jan 2017, 4:02 p.m.
Mutations in CHRNE can cause slow channel syndromes that are autosomal dominant and result in a gain of function; fast channel syndromes that are autosomal recessive; acetylcholine receptor deficiency syndromes that are autosomal recessive; and a rare case of a reduced conductance syndrome which is autosomal recessive has been reported. Acetylcholine recptor deficiency due to CHRNE mutations in the most common form of congenital myasthenic syndrome.
Covered by the Oxford Congenital Myasthenic Service.Created: 24 Jan 2017, 5:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CHRNE were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome to 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
Source NHS GMS was added to CHRNE.
Source Wessex and West Midlands GLH was added to CHRNE. 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).
Phenotypes for CHRNE were set to Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 ;Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome
Publications for CHRNE were set to 12417530; 14719537; 25792100; 24295813
Mode of inheritance for CHRNE was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
CHRNE was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen
CHRNE was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory
CHRNE was added to Congenital myaestheniapanel. Sources: Illumina TruGenome Clinical Sequencing Services
CHRNE was added to Congenital myaestheniapanel. Sources: UKGTN