NEB - Gene browser

NEB

nebulin

HCNC Approved Symbol: NEB (HGNC:7720)
Genomic Coordinates: 2:151,485,339 - 151,734,476 (2q23.3)
Synonyms: NEB177D, NEM2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

44Patients

In total, 44 patients were diagnosed with a variant in the NEB gene.

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

044
Patient count

Myopathy: 14 (31.8%)
Patient Count: 14 (31.8%)
% of total patients presenting each phenotype is shown in parentheses.
14 (31.8%)
Muscle weakness: 12 (27.3%)
Patient Count: 12 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
12 (27.3%)
Gait disturbance: 11 (25.0%)
Patient Count: 11 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
11 (25.0%)
Scoliosis: 10 (22.7%)
Patient Count: 10 (22.7%)
% of total patients presenting each phenotype is shown in parentheses.
10 (22.7%)
Gross motor delay: 8 (18.2%)
Patient Count: 8 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
8 (18.2%)