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PHLDA2

Synonyms
BRW1C, BWR1C, HLDA2, IPL, TSSC3
External resources
Summary
This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver.

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
0
Likely pathogenic
0
VUS
210
Likely benign
3
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PHLDA2 gene.

Phenotype class
Patients in 3billion (%)

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