Adult onset hereditary spastic paraplegia
Gene: PCDH12EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 14 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
Chris Buxton (North Bristol NHS Trust)
HGMD does not desciribe as its bein a HSP-phenotype. The comments onpanelApp sound more lkike an epilepsy gene, with a spasticity component (OMIM)Created: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability; microcephaly; epilepsy; perithalamic hyperechogenicity; periventricular hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 605622
- Clinvar variants
- Variants in PCDH12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Hereditary spastic paraplegia
- DDG2P
- Intracerebral calcification disorders
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Severe microcephaly
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: PCDH12 were set to 27164683
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: PCDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PCDH12.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to PCDH12.
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes microcephaly; midbrain abnormalities; perithalamic hyperechogenicity; intellectual disability; epilepsy; periventricular hyperechogenicity; hypothalamic abnormalities for gene: PCDH12 Publications for gene PCDH12 were changed from to 27164683
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: PCDH12 was added gene: PCDH12 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: PCDH12 was set to