PCDH19 Chromosome X
Protocadherin 19
Upload your DNA to see your personal genotypes for variants in PCDH19.
What This Gene Does
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Non-clustered protocadherins
Locus Type
gene with protein product
Location
Xq22.1
Ensembl
ENSG00000165194
Associated Conditions (24)
Developmental and epileptic encephalopathy
9
Inborn genetic diseases
PCDH19-related disorder
Glycine encephalopathy
Familial GGE
sporadic NAFE
Neurodevelopmental disorder with epilepsy
Bilateral tonic-clonic seizure
Refractory epilepsy with Lennox Gastaut syndrome
PCDH19-related epilespy
See cases
Intellectual disability
developmental delay with seizures
Seizure
Epileptic encephalopathy
Epilepsy
PCDH19-related epilepsy syndrome
Nonpapillary renal cell carcinoma
Complex febrile seizure
+4 more conditions
Key Variants
RS1064794763
Conflicting classifications of pathogenicity
Health Risk
RS1241637351
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy
Health Risk
RS1325807867
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, Inborn genetic diseases
Health Risk
RS137962077
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy
Health Risk
RS138771033
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, Inborn genetic diseases
Health Risk
RS1403828540
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy
Health Risk
RS1422167083
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy
Health Risk
RS1555972516
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy
Health Risk
RS1555985687
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy
Health Risk
RS1602600445
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy
Health Risk
RS1602636688
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy
Health Risk
RS189342249
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 9, PCDH19-related disorder
Health Risk
All Variants (418)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886044166 | Health Risk | Pathogenic | — |
| RS1057521256 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS1060502176 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS1555985689 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS1569314809 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Inborn genetic diseases |
| RS1602635656 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS1602637696 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS1928462873 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS2147485081 | Health Risk | Pathogenic/Likely pathogenic | PCDH19-related epilepsy, Developmental and epileptic encephalopathy, 9 |
| RS2147537831 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS2147540518 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS2520722295 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 9 |
| RS369638371 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS398123603 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS587784299 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS796052796 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS796052811 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |
| RS796052812 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 9, Developmental and epileptic encephalopathy |