PCDH12

protocadherin 12
OMIM: 605622, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Red PCDH12 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • intellectual disability
  • microcephaly
  • epilepsy
  • perithalamic hyperechogenicity
  • periventricular hyperechogenicity
  • midbrain abnormalities
  • hypothalamic abnormalities
Tags
  • founder-effect

Red PCDH12 in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • microcephaly
    • intellectual disability
    • perithalamic hyperechogenicity
    • hypothalamic abnormalities
    • periventricular hyperechogenicity
    • epilepsy
    • midbrain abnormalities

    Red PCDH12 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    Phenotypes
    • intellectual disability
    • microcephaly
    • epilepsy
    • perithalamic hyperechogenicity
    • periventricular hyperechogenicity
    • midbrain abnormalities
    • hypothalamic abnormalities
    Tags
    • founder-effect

    Red PCDH12 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.235

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    Phenotypes
    • intellectual disability
    • microcephaly
    • epilepsy
    • perithalamic hyperechogenicity
    • periventricular hyperechogenicity
    • midbrain abnormalities
    • hypothalamic abnormalities
    Tags
    • founder-effect

    No list PCDH12 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.103
    Latest signed off version: v2.2 (2 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280

    Red PCDH12 in Hereditary spastic paraplegia - childhood onset


    Version 2.37
    Latest signed off version: v2.36 (16 Dec 2021)

    review 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

    Red PCDH12 in Hereditary spastic paraplegia - adult onset


    Version 1.26
    Latest signed off version: v1.25 (16 Dec 2021)

    review 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

    Red PCDH12 in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • microcephaly
    • intellectual disability
    • perithalamic hyperechogenicity
    • hypothalamic abnormalities
    • periventricular hyperechogenicity
    • epilepsy
    • midbrain abnormalities
    Tags
    • founder-effect

    Green PCDH12 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Expert Review
    Phenotypes
    • Microcephaly, seizures, spasticity, and brain calcification 251280

    Green PCDH12 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • intellectual disability
    • microcephaly
    • epilepsy
    • perithalamic hyperechogenicity
    • periventricular hyperechogenicity
    • midbrain abnormalities
    • hypothalamic abnormalities
    • Microcephaly, seizures, spasticity, and brain calcification, 251280
    Tags
    • founder-effect

    Red PCDH12 in Adult onset movement disorder


    Version 1.82
    Latest signed off version: v1.81 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • intellectual disability
    • Microcephaly
    • perithalamic hyperechogenicity
    • midbrain abnormalities
    • hypothalamic abnormalities
    • epilepsy
    • microcephaly
    • periventricular hyperechogenicity

    Amber PCDH12 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • South West GLH
    Phenotypes
    • perithalamic hyperechogenicity
    • midbrain abnormalities
    • microcephaly
    • hypothalamic abnormalities
    • intellectual disability
    • periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280
    • epilepsy

    Green PCDH12 in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280