PanelApp
  1. Genes and Genomic Entities
  2. COL18A1

COL18A1

collagen type XVIII alpha 1 chain
OMIM: 120328, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green COL18A1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.201

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Knobloch syndrome, type 1 MIM# 267750

    Green COL18A1 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.375

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green COL18A1 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Knobloch syndrome, type 1, MIM# 267750

    Green COL18A1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Knobloch syndrome, type 1, MIM# 267750

    Red COL18A1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Knobloch syndrome, type 1, MIM#267750

    Green COL18A1 in Vitreoretinopathy


    Level 2: Ophthalmological disorders
    Version 1.9

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Knobloch syndrome, type 1, MIM# 267750

    Green COL18A1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Knobloch syndrome, type 1, 267750 (3)

    Green COL18A1 in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Knobloch syndrome, type 1 MIM# 267750

    Green COL18A1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Knobloch syndrome, type 1, 267750 (3)

    Green COL18A1 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Knobloch syndrome, type 1 MIM#267750