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GFAP

Synonyms
ALXDRD
External resources
Summary
This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

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
21
Likely pathogenic
16
VUS
1,989
Likely benign
2,687
Benign
727

Patient phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on GFAP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.8%
Abnormality of the musculoskeletal system
27%
Abnormality of head or neck
18.9%
Abnormality of the cardiovascular system
18.9%
Abnormality of the digestive system
10.8%
Abnormality of the ear
8.1%
Abnormality of the genitourinary system
8.1%
Abnormality of the integument
8.1%
Growth abnormality
8.1%
Abnormality of limbs
5.4%
Abnormality of the immune system
5.4%
Abnormality of blood and blood-forming tissues
2.7%
Abnormality of the eye
2.7%
Constitutional symptom
2.7%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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