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TBX19

Synonyms
TBS19, TPIT, dJ747L4.1
External resources
Summary
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure.

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
6
Likely pathogenic
0
VUS
2,940
Likely benign
1,527
Benign
117

Patient phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on TBX19 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the digestive system
33.3%
Abnormality of the immune system
33.3%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of head or neck
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the integument
16.7%
Abnormality of the nervous system
16.7%
Constitutional symptom
16.7%
Growth abnormality
16.7%
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 ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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