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Research panel - Severe Paediatric Disorders

Gene: CHRND

Green List (high evidence)
CHRND (cholinergic receptor nicotinic delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000135902
EnsemblGeneIds (GRCh37): ENSG00000135902
OMIM: 100720, Gene2Phenotype
CHRND is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CHRND; Recommended initial gene rating: Green List (high evidence); Phenotypes: Multiple pterygium syndrome, lethal type, 253290 (3) | ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3) | Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3) | ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

Details

Mode of Inheritance
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
OMIM
100720
Clinvar variants
Variants in CHRND
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CHRND were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CHRND.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CHRND. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CHRND was added gene: CHRND was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CHRND was set to