Adult onset hereditary spastic paraplegia
Gene: PCDH12
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.
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
Publications for gene: PCDH12 were set to 27164683
Mode of inheritance for gene: PCDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to PCDH12.
Source Yorkshire and North East GLH was added to PCDH12.
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
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