1. Genes and Genomic Entities
  2. CTSF

CTSF

cathepsin F
OMIM: 603539, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green CTSF in Lysosomal storage disorder


Level 2: Metabolic
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362
  • neuronal ceroid lipofuscinosis 13 MONDO:0014147
Green CTSF in Neuronal ceroid lipofuscinosis


Level 2: Metabolic
Version 3.2
Latest signed off version: v3.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362
  • neuronal ceroid lipofuscinosis 13 MONDO:0014147
No list CTSF in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
Tags
  • curated_removed
Green CTSF in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.11
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
Green CTSF in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362
    • neuronal ceroid lipofuscinosis 13 MONDO:0014147
    Amber CTSF in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
    • neuronal ceroid lipofuscinosis 13, MONDO:0014147
    Tags
    • Q1_25_ promote_green
    Red CTSF in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type
    Red CTSF in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362