GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: PCDH12EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 14 panels
1 review
Emily Jones (North Bristol NHS Trust)
Ataxia/dystonia can be a feature but is not the predominant one.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- South West GLH
- Phenotypes
-
- periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280
- microcephaly
- epilepsy
- midbrain abnormalities
- perithalamic hyperechogenicity
- hypothalamic abnormalities
- intellectual disability
- OMIM
- 605622
- Clinvar variants
- Variants in PCDH12
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Intracerebral calcification disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Intellectual disability
- Severe microcephaly
- Childhood onset hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
History Filter Activity
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene PCDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280; microcephaly; epilepsy; midbrain abnormalities; perithalamic hyperechogenicity; hypothalamic abnormalities; intellectual disability for gene: PCDH12
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to PCDH12. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: PCDH12 was added gene: PCDH12 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: PCDH12 was set to