Hereditary spastic paraplegia - childhood onset

Gene: PCDH12

Red List (low evidence)

PCDH12 (protocadherin 12)
EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 11 panels

1 review

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Childhood onset. Spasticity a feature of complex disorder in minority of patients.
Created: 10 May 2019, 12:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
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

History Filter Activity

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PCDH12 were set to 27164683

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PCDH12.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PCDH12.

3 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes microcephaly; perithalamic hyperechogenicity; midbrain abnormalities; intellectual disability; epilepsy; periventricular hyperechogenicity; hypothalamic abnormalities for gene: PCDH12

28 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: PCDH12 was added gene: PCDH12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683 Phenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity