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ABHD16A

Synonyms
BAT5, D6S82E, NG26, PP199, hBAT5
External resources
Summary
A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described.

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
0
VUS
2,285
Likely benign
2,623
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on ABHD16A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
25%
Abnormality of the immune system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
12.5%
Abnormality of limbs
12.5%
Abnormality of the ear
12.5%
Abnormality of the integument
12.5%
Abnormality of the nervous system
12.5%
Abnormality of the respiratory system
12.5%
Neoplasm
12.5%
Abnormal cellular phenotype
0%
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 cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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