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ADGRG6

Synonyms
APG1, DREG, GPR126, LCCS9, PR126, PS1TP2, VIGR
External resources
Summary
This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins 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
15
Likely pathogenic
2
VUS
3,060
Likely benign
2,308
Benign
1,082

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on ADGRG6 gene are displayed below. The following symptoms were found in patients with a variant in ADGRG6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
40%
Abnormality of the nervous system
33.3%
Abnormality of the cardiovascular system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of head or neck
13.3%
Abnormality of metabolism homeostasis
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of limbs
6.7%
Abnormality of prenatal development or birth
6.7%
Abnormality of the ear
6.7%
Abnormality of the immune system
6.7%
Abnormality of the integument
6.7%
Abnormality of the respiratory system
6.7%
Growth abnormality
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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