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  2. Newborns additional phenotypes panel 1
  3. CHRND
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Newborns additional phenotypes panel 1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Oxford Congenital Myasthenia Service have requested to be involved at the variant review stage. They will be able to assist with variant interpretation and initial management plans.
Created: 25 Sep 2024, 2:01 p.m. | Last Modified: 25 Sep 2024, 2:01 p.m.
Panel Version: 0.100
Special Consideration: Multiple MOIs included.

Additional Information: AD (GOF) and AR (LOF) forms of Congenital myasthenic syndrome are included.
Created: 25 Sep 2024, 2:01 p.m. | Last Modified: 25 Sep 2024, 2:01 p.m.
Panel Version: 0.100
Created: 25 Sep 2024, 2:01 p.m.
Last Modified: 25 Sep 2024, 2:01 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) for autosomal recessive MOI and gain-of-function (GOF) for autosomal dominant MOI.
Created: 7 Jul 2023, 9:16 a.m. | Last Modified: 7 Jul 2023, 9:19 a.m.
Panel Version: 0.31
PMID: 27375219 - 2 dominant cases in supplement. PMID: 36733345 - 4 recessive cases PMID: 33428214 - 1 dominant case
Created: 7 Jul 2023, 9:16 a.m. | Last Modified: 7 Jul 2023, 9:16 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:16 a.m.
Last Modified: 7 Jul 2023, 9:19 a.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome-3, autosomal dominant
Tags
special_consideration
OMIM
100720
Clinvar variants
Variants in CHRND
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CHRND.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CHRND were changed from Congenital myasthenic syndrome-3 to Congenital myasthenic syndrome-3, autosomal dominant

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Congenital myasthenic syndrome-3 for gene: CHRND

5 Jul 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

gene: CHRND was added gene: CHRND was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: CHRND was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome-3 Mode of pathogenicity for gene: CHRND was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments