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| DDG2P v3.38 | PCDH19 | Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.38 | PCDH19 | Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.38 | PCDH19 | Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCDH19 | Achchuthan Shanmugasundram reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469813, 19752159, 5116697, 19214208; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PCDH19 | Achchuthan Shanmugasundram Publications for gene: PCDH19 were updated from 19214208; 5116697; 18469813; 19752159 to 18469813; 5116697; 19752159; 19214208 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.75 | PCDH19 | Rebecca Foulger Added comment: Comment on mode of inheritance: Note that the allelic requirement for PCDH19 in Gene2Phenotype is x-linked over-dominance. Note from Anna de Burca (Genomics England clinical team): PCDH19 only causes epilepsy in heterozygous females, and hemizygous males are unaffected. For the purposes of the pipeline, use 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease' to ensure that females with a variant are not missed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.75 | PCDH19 | Rebecca Foulger Mode of inheritance for gene: PCDH19 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.74 | PCDH19 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of Inheritance from 'x-linked over dominance' to a PanelApp standardised MOI term. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.74 | PCDH19 | Rebecca Foulger Mode of inheritance for gene: PCDH19 was changed from x-linked over-dominance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PCDH19 | Rebecca Foulger reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PCDH19 |
Rebecca Foulger gene: PCDH19 was added gene: PCDH19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCDH19 was set to x-linked over-dominance Publications for gene: PCDH19 were set to 19214208; 5116697; 18469813; 19752159 Phenotypes for gene: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088 |
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