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PHLDA1

Synonyms
DT1P1B11, PHRIP, TDAG51
External resources
Summary
This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1.

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
27
Likely pathogenic
12
VUS
2,022
Likely benign
514
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on PHLDA1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
54.5%
Abnormality of the nervous system
36.4%
Abnormality of the ear
27.3%
Abnormality of limbs
22.7%
Abnormality of the musculoskeletal system
22.7%
Abnormality of head or neck
18.2%
Abnormality of the integument
13.6%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the immune system
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
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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