1. Panels
  2. Congenital ophthalmoplegia
  3. CHRNE
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital ophthalmoplegia

Gene: CHRNE

Green List (high evidence)
CHRNE (cholinergic receptor nicotinic epsilon subunit)
EnsemblGeneIds (GRCh38): ENSG00000108556
EnsemblGeneIds (GRCh37): ENSG00000108556
OMIM: 100725, Gene2Phenotype
CHRNE is in 12 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, 5:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 4B, fast-channel, MIM# 616324

Created: 16 Nov 2020, 5:23 a.m.

Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 4B, fast-channel, MIM# 616324
Tags
treatable
OMIM
100725
Clinvar variants
Variants in CHRNE
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: CHRNE.

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrne 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: chrne 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: CHRNE was added gene: CHRNE was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, MIM# 616324 Review for gene: CHRNE was set to GREEN