1. Panels
  2. Congenital ophthalmoplegia
  3. CHRNB1
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Congenital ophthalmoplegia

Gene: CHRNB1

Green List (high evidence)
CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000170175
EnsemblGeneIds (GRCh37): ENSG00000170175
OMIM: 100710, Gene2Phenotype
CHRNB1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ophthalmoplegia is a feature.
Sources: Expert list
Created: 16 Nov 2020, 5:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 2A, slow-channel, MIM# 616313

Created: 16 Nov 2020, 5:15 a.m.

Panel version: 0.56

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 2A, slow-channel, MIM# 616313
OMIM
100710
Clinvar variants
Variants in CHRNB1
Penetrance
None
Panels with this gene

History Filter Activity

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrnb1 has been classified as Green List (High Evidence).

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrnb1 has been classified as Green List (High Evidence).

16 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRNB1 was added gene: CHRNB1 was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2A, slow-channel, MIM# 616313 Review for gene: CHRNB1 was set to GREEN