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GLMN

Synonyms
FAP, FAP48, FAP68, FKBPAP, GLML, GVM, VMGLOM
External resources
Summary
This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene.

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
9
Likely pathogenic
0
VUS
1,356
Likely benign
8,938
Benign
259

Patient phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on GLMN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
55.6%
Abnormality of the nervous system
44.4%
Abnormality of the ear
33.3%
Abnormality of head or neck
22.2%
Abnormality of the integument
22.2%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of prenatal development or birth
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the eye
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Constitutional symptom
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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