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MNDA

Synonyms
PYHIN3
External resources
Summary
The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons.

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
22
Likely pathogenic
16
VUS
1,504
Likely benign
118
Benign
0

Patient phenotypes

Proportions of phenotypes among 38 patients carring pathogenic or likely pathogenic variants on MNDA gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the eye
44.7%
Abnormality of the musculoskeletal system
39.5%
Abnormality of head or neck
31.6%
Abnormality of the integument
18.4%
Abnormality of the genitourinary system
15.8%
Abnormality of the cardiovascular system
13.2%
Abnormality of the ear
10.5%
Growth abnormality
10.5%
Abnormality of limbs
7.9%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the respiratory system
5.3%
Neoplasm
5.3%
Abnormality of prenatal development or birth
2.6%
Abnormality of the endocrine system
2.6%
Abnormality of the voice
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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