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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

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
12
Likely pathogenic
2
VUS
1,238
Likely benign
3,513
Benign
347

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on GFAP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
35.7%
Abnormality of the musculoskeletal system
35.7%
Abnormality of the nervous system
35.7%
Abnormality of the cardiovascular system
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the immune system
14.3%
Growth abnormality
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of limbs
7.1%
Abnormality of the ear
7.1%
Abnormality of the eye
7.1%
Abnormality of the genitourinary system
7.1%
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 integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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