GFAP

GFAP

glial fibrillary acidic protein

HCNC Approved Symbol: GFAP (HGNC:4235)
Genomic Coordinates: 17:44,903,159 - 44,915,500 (17q21.31)
Synonyms: FLJ45472
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3billion 유전진단 검사 알아보기

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the GFAP gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

011
Patient count

Seizures: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Intellectual disability: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Epilepsy: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Leukodystrophy: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Gait disturbance: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)

Last updated: 2024-06-30