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GAS8

Synonyms
CILD33, DRC4, GAS11
External resources
Summary
This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene.

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
9
Likely pathogenic
0
VUS
2,492
Likely benign
2,182
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on GAS8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.6%
Abnormality of the musculoskeletal system
44.4%
Abnormality of the eye
33.3%
Abnormality of head or neck
22.2%
Growth abnormality
22.2%
Abnormality of limbs
11.1%
Abnormality of prenatal development or birth
11.1%
Abnormality of the breast
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the ear
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the integument
11.1%
Abnormality of the respiratory system
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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