PTCHD1

patched domain containing 1
OMIM: 300828, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber PTCHD1 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Amber
  • SFARI

Red PTCHD1 in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTISM/ID

Green PTCHD1 in DDG2P


Version 2.50
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AUTISM/ID 300830

    Green PTCHD1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • AUTISM/ID

    Amber PTCHD1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Bleeding disorder, platelet-type, 19, 616176