Congenital myaesthenic syndrome

Gene: CHRND

Green List (high evidence)

CHRND (cholinergic receptor nicotinic delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000135902
EnsemblGeneIds (GRCh37): ENSG00000135902
OMIM: 100720, Gene2Phenotype
CHRND is in 7 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

Michael Oldridge (NHS)

Green List (high evidence)

see PanelApp
Created: 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

Rebecca Foulger (Genomics England curator)

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.

David Beeson (Oxford University)

Green List (high evidence)

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 Service
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
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
OMIM
100720
Clinvar variants
Variants in CHRND
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CHRND were set to 16916845 11782989 11435464

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CHRND.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to CHRND. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

26 Jan 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for CHRND were set to 16916845 11782989 11435464

26 Jan 2017, Gel status: 4

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for CHRND was changed to Other - please provide details in the comments

26 Jan 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for CHRND was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Jan 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

CHRND was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CHRND was added to Congenital myaestheniapanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CHRND was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CHRND was added to Congenital myaestheniapanel. Sources: Illumina TruGenome Clinical Sequencing Services