PCDH12:Ensemblv90

protocadherin 12
OMIM: 605622, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green PCDH12 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Green PCDH12 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.405	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1 (OMIM 251280)
Green PCDH12 in Mendeliome Version 1.3802	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Green PCDH12 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.376	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Green PCDH12 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Green PCDH12 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280
Red PCDH12 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes cerebellar ataxia, dystonia, retinopathy, and dysmorphism
Green PCDH12 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive
Green PCDH12 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Green PCDH12 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280)
Green PCDH12 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Green PCDH12 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1 (OMIM 251280)
Green PCDH12 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services GeneReviews Royal Melbourne Hospital Expert Review Green Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Green PCDH12 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive
Green PCDH12 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280)