PanelApp (staging)
  1. Genes and Genomic Entities
  2. CTSF

CTSF

cathepsin F
OMIM: 603539, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CTSF in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.29

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362

    Green CTSF in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362

    Green CTSF in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.13

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362

    Green CTSF in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362

    Green CTSF in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

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

    Red CTSF in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362

    Green CTSF in Progressive Myoclonic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.19

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362

    Green CTSF in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362

    Green CTSF in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)

    Green CTSF in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
    Tags
    • for review