PCDH19

protocadherin 19
OMIM: 300460, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PCDH19 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.205	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red PCDH19 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	Other	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 9 (OMIM 300088)
Green PCDH19 in Mendeliome Version 1.2374	review	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 9 300088 PCDH19-related epilepsy (early seizure onset, generalised or focused seizures) cognitive impairment
Green PCDH19 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	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
Green PCDH19 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	Other	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 9 MIM#300088
Green PCDH19 in Prepair 1000+ Level 2: Screening Version 1.1586	review	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 Literature Phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088)
Green PCDH19 in Prepair 500+ Level 2: Screening Version 1.5	review	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 Literature Phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088)