PCDH19:Ensemblv90

protocadherin 19
OMIM: 300460, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green PCDH19 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.233	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red PCDH19 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.405	1 review	Other	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 9 (OMIM 300088)
Green PCDH19 in Mendeliome Version 1.3802	2 reviews	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 1.309 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	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 1.508	1 review	Other	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 9 MIM#300088
Green PCDH19 in Focal Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.15	1 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 0.15	1 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 2.15	2 reviews	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 2.0	2 reviews	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 Literature Phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088)
Green PCDH19 in Autism Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Red PCDH19 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	Other	Sources Literature Expert Review Red Phenotypes Developmental and epileptic encephalopathy 9 (OMIM 300088)
Green PCDH19 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	Other	Sources Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Green 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 2.0	1 review	Other	Sources Genetic Health Queensland Expert Review Green Phenotypes Developmental and epileptic encephalopathy 9 MIM#300088
Green PCDH19 in Focal Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Green Expert Review Green GREP Phenotypes Epileptic encephalopathy, early infantile, 9
Green PCDH19 in Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Green Expert Review Green GREP Phenotypes Epileptic encephalopathy, early infantile, 9
Green PCDH19 in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Expert Review Green Phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088)
Green PCDH19 in Prepair 500+ Level 2: Screening Version 3.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Literature Expert Review Green Phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088)