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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 6 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

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

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