Home > Gene Browser > NEO1
NEO1
- Synonyms
- IGDCC2, NGN, NTN1R2
- External resources
- NCBI4756
- OMIM601907
- EnsemblENSG00000067141
- HGNCHGNC:7754
- Summary
- This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 8
- Likely pathogenic
- 3
- VUS
- 29,726
- Likely benign
- 7,947
- Benign
- 0
Patient phenotypes
Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on NEO1 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the cardiovascular system
- 45.5%
- Constitutional symptom
- 27.3%
- Abnormality of the eye
- 18.2%
- Abnormality of the nervous system
- 18.2%
- Abnormality of blood and blood-forming tissues
- 9.1%
- Abnormal cellular phenotype
- 0%
- Abnormality of head or neck
- 0%
- Abnormality of limbs
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of prenatal development or birth
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the digestive system
- 0%
- Abnormality of the ear
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the genitourinary system
- 0%
- Abnormality of the immune system
- 0%
- Abnormality of the integument
- 0%
- Abnormality of the musculoskeletal system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Growth abnormality
- 0%
- Neoplasm
- 0%
Have a question or need assistance? Ask here.
Send us your questions or comments related to the variant counts and/or patient phenotypes