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NOMO1

Synonyms
Nomo, PM5
External resources
Summary
This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE).

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
27
Likely pathogenic
51
VUS
12,899
Likely benign
1,413
Benign
0

Patient Phenotypes

Proportions of phenotypes among 77 patients carrying pathogenic or likely pathogenic variants on NOMO1 gene are displayed below. The following symptoms were found in patients with a variant in NOMO1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
49.4%
Abnormality of the musculoskeletal system
39%
Abnormality of head or neck
29.9%
Abnormality of the eye
29.9%
Abnormality of the ear
16.9%
Growth abnormality
14.3%
Abnormality of limbs
13%
Abnormality of metabolism homeostasis
13%
Abnormality of the genitourinary system
11.7%
Abnormality of the cardiovascular system
9.1%
Abnormality of blood and blood forming tissues
7.8%
Abnormality of the digestive system
7.8%
Abnormality of the endocrine system
6.5%
Abnormality of the immune system
6.5%
Abnormality of the integument
5.2%
Neoplasm
5.2%
Abnormality of prenatal development or birth
3.9%
Abnormality of the respiratory system
3.9%
Constitutional symptom
3.9%
Abnormal cellular phenotype
2.6%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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