LMNA

LMNA

lamin A/C

HCNC Approved Symbol: LMNA (HGNC:6636)
Genomic Coordinates: 1:156,082,573 - 156,140,081 (1q22)
Synonyms: HGPS, MADA, LMN1, CMD1A, LGMD1B, PRO1, LMNL1
Disease Associations: This gene is associated with the following 11 diseases in OMIM.

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Diagnosed Cases

42Patients

In total, 42 patients were diagnosed with a variant in the LMNA gene.

Frequently observed phenotypes(Top 5 only)

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

042
Patient count

Dilated cardiomyopathy: 8 (19.0%)
Patient Count: 8 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
8 (19.0%)
Myopathy: 6 (14.3%)
Patient Count: 6 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (14.3%)
Heart failure: 4 (9.5%)
Patient Count: 4 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (9.5%)
Hypothyroidism: 4 (9.5%)
Patient Count: 4 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (9.5%)
Sick sinus syndrome: 4 (9.5%)
Patient Count: 4 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (9.5%)

Last updated: 2024-06-30