This Panel is marked as Retired
Epilepsy Plus
Gene: PCDH12
PCDH12 (protocadherin 12)
EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by a reviewer. Founder effect reported in PMID: 27164683.Created: 31 Oct 2017, 4:17 p.m.
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 Red
- Phenotypes
-
- intellectual disability
- microcephaly
- epilepsy
- perithalamic hyperechogenicity
- periventricular hyperechogenicity
- midbrain abnormalities
- hypothalamic abnormalities
- Tags
- OMIM
- 605622
- Clinvar variants
- Variants in PCDH12
- Penetrance
- Complete
- Publications
-
- PMID:27164683
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Intracerebral calcification disorders
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Severe microcephaly
- DDG2P
History Filter Activity
31 Oct 2017, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2017, Gel status: 0
Added New Source
Cristina Dias (The Francis Crick Institute)PCDH12 was added to Epilepsy Pluspanel. Sources: Literature
10 May 2017, Gel status: 0
Created
Cristina Dias (The Francis Crick Institute)PCDH12 was created by cdias