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Variant Pathogenicity
PCDH19
Name
PCDH19
HGNC ID
HGNC:14270
Cytogenetic Location
Xq22.1
Haploinsufficiency
Sufficient Evidence
Triplosensitivity
No Evidence
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ClinVar Variants
PCDH19
-
epilepsy
| MONDO:0005027
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
X-Linked
09/04/2018
View report
PCDH19
-
early infantile epileptic encephalopathy 9
| MONDO:0010246
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Sufficient Evidence for Haploinsufficiency
08/22/2019
View report
PCDH19
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Sufficient Evidence for Haploinsufficiency
08/22/2019
View report
No Evidence for Triplosensitivity
08/22/2019
View report
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