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  2. Congenital ophthalmoplegia
  3. CHRND
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Congenital ophthalmoplegia

Gene: CHRND

Green List (high evidence)
CHRND (cholinergic receptor nicotinic delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000135902
EnsemblGeneIds (GRCh37): ENSG00000135902
OMIM: 100720, Gene2Phenotype
CHRND is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ptosis and ophthalmoplegia are features of congenital myasthenic syndromes.
Sources: Expert list
Created: 22 Dec 2020, 5:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 3B, fast-channel, MIM# 616322

Created: 22 Dec 2020, 5:24 a.m.

Panel version: 0.89

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 3B, fast-channel, MIM# 616322
Tags
treatable
OMIM
100720
Clinvar variants
Variants in CHRND
Penetrance
None
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CHRND.

22 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrnd has been classified as Green List (High Evidence).

22 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrnd has been classified as Green List (High Evidence).

22 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRND was added gene: CHRND was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, MIM# 616322 Review for gene: CHRND was set to GREEN