Neuronal ceroid lipofuscinosis

Gene: CTSF

Green List (high evidence)

CTSF (cathepsin F)
EnsemblGeneIds (GRCh38): ENSG00000174080
EnsemblGeneIds (GRCh37): ENSG00000174080
OMIM: 603539, Gene2Phenotype
CTSF is in 8 panels

1 review

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
603539
Clinvar variants
Variants in CTSF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147

28 Mar 2019, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CTSF were set to

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: CTSF was added gene: CTSF was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal