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ADAM9

Synonyms
CORD9, MCMP, MDC9, Mltng
External resources
Summary
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene.

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
17
Likely pathogenic
0
VUS
17,510
Likely benign
7,037
Benign
115

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on ADAM9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
25%
Abnormality of the eye
25%
Abnormality of head or neck
18.8%
Abnormality of the ear
18.8%
Abnormality of the genitourinary system
18.8%
Abnormality of the nervous system
18.8%
Growth abnormality
18.8%
Abnormality of the digestive system
12.5%
Constitutional symptom
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of the immune system
6.3%
Abnormality of the integument
6.3%
Abnormality of the musculoskeletal system
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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