CHRNE

CHRNE

cholinergic receptor nicotinic epsilon subunit

HCNC Approved Symbol: CHRNE (HGNC:1966)
Genomic Coordinates: 17:4,897,771 - 4,908,677 (17p13.2)
Synonyms: ACHRE
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

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Diagnosed Cases

22Patients

In total, 22 patients were diagnosed with a variant in the CHRNE gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

022
Patient count

Ptosis: 7 (31.8%)
Patient Count: 7 (31.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (31.8%)
Ophthalmoplegia: 7 (31.8%)
Patient Count: 7 (31.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (31.8%)
Muscle weakness: 7 (31.8%)
Patient Count: 7 (31.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (31.8%)
Muscle atrophy: 4 (18.2%)
Patient Count: 4 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (18.2%)
Non-ambulatory: 4 (18.2%)
Patient Count: 4 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (18.2%)

Last updated: 2024-06-30