Epileptic encephalopathy
Gene: PCDH12EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was added and reviewed by an external reviewer as red to the Epilepsy Plus gene panel on 10th May 2017. One study reporting multiple consanguineous families with the same founder mutation, for a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability.Created: 18 Dec 2017, 12:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Cristina Dias (The Francis Crick Institute)
4 consanguineous families with the same mutation (c.2515C.T, p.R839X) described by Aran et al (2016) Neurology 86(21):2016-2024.Created: 10 May 2017, 9:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability; microcephaly; epilepsy; perithalamic hyperechogenicity; periventricular hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities
Publications
- PMID:27164683
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review
- Phenotypes
-
- intellectual disability
- microcephaly
- epilepsy
- perithalamic hyperechogenicity
- periventricular hyperechogenicity
- midbrain abnormalities
- hypothalamic abnormalities
- Tags
- OMIM
- 605622
- Clinvar variants
- Variants in PCDH12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intracerebral calcification disorders
- Early onset dystonia
- Intellectual disability
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PCDH12 were set to intellectual disability; microcephaly; epilepsy; perithalamic hyperechogenicity; periventricular hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities
Added New Source
Ellen McDonagh (Genomics England Curator)PCDH12 was added to Epileptic encephalopathy panel. Sources: Expert Review
Created
Ellen McDonagh (Genomics England Curator)PCDH12 was created by Ellen McDonagh