GCH1 - Gene browser

GCH1

GTP cyclohydrolase 1

HCNC Approved Symbol: GCH1 (HGNC:4193)
Genomic Coordinates: 14:54,842,017 - 54,902,826 (14q22.2)
Synonyms: GTPCH1, DYT5a, GCH, DYT5, DYT14
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

16Patients

In total, 16 patients were diagnosed with a variant in the GCH1 gene.

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

016
Patient count

Dystonia: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Seizures: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Ataxia: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Muscle weakness: 1 (6.3%)
Patient Count: 1 (6.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (6.3%)
Paraplegia: 1 (6.3%)
Patient Count: 1 (6.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (6.3%)