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PITX1

Synonyms
BFT, CCF, LBNBG, POTX, PTX1
External resources
Summary
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.

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
3
Likely pathogenic
1
VUS
271
Likely benign
266
Benign
5

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on PITX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
100%
Abnormality of head or neck
50%
Abnormality of the musculoskeletal system
50%
Abnormality of limbs
25%
Abnormality of the genitourinary system
25%
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 ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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