Cerebral Palsy
Gene: PCDH19
PCDH19 (protocadherin 19)
EnsemblGeneIds (GRCh38): ENSG00000165194
EnsemblGeneIds (GRCh37): ENSG00000165194
OMIM: 300460, Gene2Phenotype
PCDH19 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000165194
EnsemblGeneIds (GRCh37): ENSG00000165194
OMIM: 300460, Gene2Phenotype
PCDH19 is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
1 female with heterozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 24 Jun 2024, 6:49 a.m. | Last Modified: 24 Jun 2024, 6:49 a.m.
Panel Version: 1.294
Variants in PCDH19 cause an X-linked disorder which affects heterozygous females, with hemizygous males largely unaffected. One male with spastic diplegic cerebral palsy described with a hemizygous predicted pathogenic variant.
Sources: LiteratureCreated: 22 Sep 2021, 11:57 a.m. | Last Modified: 22 Sep 2021, 11:58 a.m.
Panel Version: 0.121
Mode of inheritance
Other
Phenotypes
Developmental and epileptic encephalopathy 9 (OMIM 300088)
Publications
- PMID: 34321325
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Phenotypes
-
- Developmental and epileptic encephalopathy 9 (OMIM 300088)
- OMIM
- 300460
- Clinvar variants
- Variants in PCDH19
- Penetrance
- None
- Publications
-
- PMID: 34321325
- Panels with this gene
History Filter Activity
23 Sep 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pcdh19 has been classified as Red List (Low Evidence).
23 Sep 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pcdh19 has been classified as Red List (Low Evidence).
22 Sep 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: PCDH19 was added gene: PCDH19 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PCDH19 was set to Other Publications for gene: PCDH19 were set to PMID: 34321325 Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (OMIM 300088) Review for gene: PCDH19 was set to RED