Home > Gene Browser > PMFBP1

PMFBP1

Synonyms
SPGF31, STAP
External resources
Summary
-

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
160
Likely pathogenic
0
VUS
3,148
Likely benign
2,148
Benign
0

Patient phenotypes

Proportions of phenotypes among 160 patients carrying pathogenic or likely pathogenic variants on PMFBP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.5%
Abnormality of head or neck
28.8%
Abnormality of the musculoskeletal system
28.1%
Abnormality of the cardiovascular system
23.8%
Abnormality of the eye
20%
Abnormality of the ear
18.1%
Growth abnormality
16.3%
Abnormality of the integument
11.9%
Abnormality of limbs
11.3%
Abnormality of the digestive system
8.8%
Abnormality of the genitourinary system
8.8%
Abnormality of the respiratory system
5.6%
Abnormality of blood and blood-forming tissues
5%
Abnormality of prenatal development or birth
5%
Abnormality of the immune system
4.4%
Abnormality of the endocrine system
3.1%
Neoplasm
1.9%
Abnormality of the breast
1.3%
Constitutional symptom
0.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes