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NFAM1

Synonyms
CNAIP
External resources
Summary
The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regulate the signaling and development of B-cells.

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
8
Likely pathogenic
0
VUS
569
Likely benign
145
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on NFAM1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
75%
Abnormality of head or neck
50%
Abnormality of the eye
50%
Abnormality of limbs
37.5%
Abnormality of the integument
37.5%
Abnormality of the musculoskeletal system
37.5%
Abnormal cellular phenotype
25%
Abnormality of the digestive system
25%
Abnormality of the immune system
25%
Abnormality of the cardiovascular system
12.5%
Abnormality of the ear
12.5%
Abnormality of the endocrine system
12.5%
Growth abnormality
12.5%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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