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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

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
0
Likely pathogenic
0
VUS
393
Likely benign
430
Benign
23

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PITX1 gene.

Phenotype class
Patients in 3billion (%)

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