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Prepair 1000+

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)

Severe condition meets criteria for screening. Note it needs special filtering.
Created: 9 Sep 2022, 6:01 a.m. | Last Modified: 9 Sep 2022, 6:01 a.m.
Panel Version: 0.193

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Developmental and epileptic encephalopathy 9 (MIM#300088)

Created: 9 Sep 2022, 6:01 a.m.
Last Modified: 9 Sep 2022, 6:01 a.m.
Panel version: 0.193

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

XLD. 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
Sources: Literature
Created: 11 Aug 2022, 7:24 a.m.

Mode of inheritance
Other

Phenotypes
Developmental and epileptic encephalopathy 9 (MIM#300088)

Publications

Created: 11 Aug 2022, 7:24 a.m.

Panel version: 0.119

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
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

2 Nov 2023, Gel status: 3

Set Phenotypes, Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088) for gene: PCDH19 Publications for gene PCDH19 were updated from 18469813; 30287595 to 30287595; 18469813

9 Sep 2022, 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).

9 Sep 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PCDH19 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

9 Sep 2022, 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).

11 Aug 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: PCDH19 was added gene: PCDH19 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: PCDH19 was set to Other Publications for gene: PCDH19 were set to 18469813; 30287595 Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088) Review for gene: PCDH19 was set to AMBER