PORCN

porcupine O-acyltransferase
OMIM: 300651, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Red PORCN in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.27

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Focal Dermal Hypoplasia, 305600
Green PORCN in Limb disorders


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Other
    Phenotypes
    • focal dermal hypoplasia 305600
    • Polydactyly
    Green PORCN in Ectodermal dysplasia


    Version 3.29
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Focal dermal hypoplasia 305600
    Green PORCN in Ectodermal dysplasia without a known gene mutation

    Level 3: Ectodermal dysplasias
    Level 2: Dermatological disorders
    Version 1.28

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert Review
    Phenotypes
    • Focal dermal hypoplasia 305600
    Green PORCN in Pigmentary skin disorders


    Version 3.12
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Angioma serpiginosa
    • FOCAL DERMAL HYPOPLASIA
    • Focal dermal hypoplasia
    • FDH
    Green PORCN in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.47

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Focal dermal hypoplasia 305600
    Green PORCN in Mosaic skin disorders - deep sequencing


    Version 2.47
    Latest signed off version: v2.0 (30 Nov 2022)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Focal dermal hypoplasia, OMIM:305600
    • focal dermal hypoplasia, MONDO:0010592
    Tags
    • mosaicism
    No list PORCN in Multiple monogenic benign skin tumours


    Version 2.4
    Latest signed off version: v2.0 (30 Nov 2022)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Focal dermal hypoplasia,305600
    Tags
    • curated_removed
    Green PORCN in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FOCAL DERMAL HYPOPLASIA
    Green PORCN in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FOCAL DERMAL HYPOPLASIA 305600
    Green PORCN in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Focal dermal hypoplasia, 305600
    • GOLTZ SYNDROME
    Green PORCN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Focal dermal hypoplasia, 305600
    • FOCAL DERMAL HYPOPLASIA (FODH)
    Green PORCN in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Focal dermal hypoplasia 305600
    Green PORCN in Severe Paediatric Disorders


    Version 1.184

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Focal dermal hypoplasia, 305600