PCDH19

protocadherin 19
OMIM: 300460, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green PCDH19 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red PCDH19 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	Other	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 9 (OMIM 300088)
Green PCDH19 in Mendeliome Version 1.1902	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 1.33 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 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green PCDH19 in Focal Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources GREP Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 9
Green PCDH19 in Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources GREP Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 9
Green PCDH19 in Prepair 1000+ Level 2: Screening Version 1.9	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 1.1	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)