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MED8

Synonyms
ARC32
External resources
Summary
This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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
508
Likely benign
10
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on MED8 gene are displayed below.

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

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