NOTCH2 - Gene browser

NOTCH2

notch receptor 2

HCNC Approved Symbol: NOTCH2 (HGNC:7882)
Genomic Coordinates: 1:119,911,553 - 120,069,662 (1p12)
Synonyms
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the NOTCH2 gene.

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

011
Patient count

Pectus carinatum: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Developmental delay: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Flat nasal bridge: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Global developmental delay: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Microcephaly: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)