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Intellectual disability syndromic and non-syndromic

Gene: PCDH19

Green List (high evidence)

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Heterozygous females and mosaic males are affected, however hemizygous males do not present with symptoms.
Created: 7 Nov 2024, 1:36 a.m. | Last Modified: 7 Nov 2024, 1:36 a.m.
Panel Version: 0.6629

Mode of inheritance
Other

Phenotypes
Developmental and epileptic encephalopathy 9 MIM#300088

Publications

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

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Developmental and epileptic encephalopathy 9 MIM#300088
OMIM
300460
Clinvar variants
Variants in PCDH19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PCDH19 were set to 28669061

7 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

7 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PCDH19 were changed from to Developmental and epileptic encephalopathy 9 MIM#300088

7 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PCDH19 were set to

7 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH19 was set to Unknown