Early onset dystonia
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)
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, 12:49 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
- 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
-
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Fetal anomalies
- Severe microcephaly
- DDG2P
- Childhood onset hereditary spastic paraplegia
- Intracerebral calcification disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PCDH12 was added to Early onset dystonia panel. Sources: Expert Review
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)PCDH12 was created by Ellen McDonagh