PCDH12

protocadherin 12
OMIM: 605622, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red PCDH12 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes intellectual disability microcephaly epilepsy perithalamic hyperechogenicity periventricular hyperechogenicity midbrain abnormalities hypothalamic abnormalities Tags founder-effect
Red PCDH12 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes microcephaly intellectual disability perithalamic hyperechogenicity hypothalamic abnormalities periventricular hyperechogenicity epilepsy midbrain abnormalities
Red PCDH12 in Intracerebral calcification disorders Level 3: Parenchymal brain disorders Level 2: Neurology and neurodevelopmental disorders Version 1.35	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes intellectual disability microcephaly epilepsy perithalamic hyperechogenicity periventricular hyperechogenicity midbrain abnormalities hypothalamic abnormalities Tags founder-effect
Red PCDH12 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes intellectual disability microcephaly epilepsy perithalamic hyperechogenicity periventricular hyperechogenicity midbrain abnormalities hypothalamic abnormalities Tags founder-effect
Green PCDH12 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.88 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280
Red PCDH12 in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Phenotypes microcephaly perithalamic hyperechogenicity midbrain abnormalities intellectual disability epilepsy periventricular hyperechogenicity hypothalamic abnormalities
Red PCDH12 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH South West GLH Phenotypes microcephaly perithalamic hyperechogenicity midbrain abnormalities intellectual disability epilepsy periventricular hyperechogenicity hypothalamic abnormalities
Red PCDH12 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes microcephaly intellectual disability perithalamic hyperechogenicity hypothalamic abnormalities periventricular hyperechogenicity epilepsy midbrain abnormalities Tags founder-effect
Green PCDH12 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280
Green PCDH12 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Expert Review Phenotypes Microcephaly, seizures, spasticity, and brain calcification 251280
Green PCDH12 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes intellectual disability microcephaly epilepsy perithalamic hyperechogenicity periventricular hyperechogenicity midbrain abnormalities hypothalamic abnormalities Microcephaly, seizures, spasticity, and brain calcification, 251280 Tags founder-effect
Red PCDH12 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes intellectual disability Microcephaly perithalamic hyperechogenicity midbrain abnormalities hypothalamic abnormalities epilepsy microcephaly periventricular hyperechogenicity
Amber PCDH12 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes perithalamic hyperechogenicity midbrain abnormalities microcephaly hypothalamic abnormalities intellectual disability periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280 epilepsy
Green PCDH12 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280