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Genetic Epilepsy

Gene: PCDH19

Green List (high evidence)

PCDH19 (protocadherin 19)
EnsemblGeneIds (GRCh38): ENSG00000165194
EnsemblGeneIds (GRCh37): ENSG00000165194
OMIM: 300460, Gene2Phenotype
PCDH19 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Females predominantly affected, XLD.
Created: 2 Feb 2021, 1:48 a.m. | Last Modified: 2 Feb 2021, 1:48 a.m.
Panel Version: 0.1017

Mode of inheritance
Other

Phenotypes
Epileptic encephalopathy, early infantile, 9 300088; PCDH19-related epilepsy (early seizure onset, generalised or focused seizures); cognitive impairment

Publications

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

Affects heterozygous females, hemizygous males are mainly unaffected
> 3 unrelated families with phenotype, > 3 de novo mutation carriers with phenotype
Evidence of mosaicism and incomplete penetrance
Created: 20 Apr 2020, 3:57 a.m. | Last Modified: 20 Apr 2020, 3:57 a.m.
Panel Version: 0.2371

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
PCDH19-related epilepsy (early seizure onset, generalised or focused seizures); cognitive impairment

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Epileptic encephalopathy, early infantile, 9 300088
  • PCDH19-related epilepsy (early seizure onset, generalised or focused seizures)
  • cognitive impairment
OMIM
300460
Clinvar variants
Variants in PCDH19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcdh19 has been classified as Green List (High Evidence).

2 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PCDH19 were changed from to Epileptic encephalopathy, early infantile, 9 300088; PCDH19-related epilepsy (early seizure onset, generalised or focused seizures); cognitive impairment

2 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PCDH19 were set to 18469813; 30287595

2 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PCDH19 were set to

2 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PCDH19 was changed from Unknown to Other

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCDH19 was added gene: PCDH19 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PCDH19 was set to Unknown