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Intellectual disability syndromic and non-syndromic

Gene: CTSF

Red List (low evidence)

CTSF (cathepsin F)
EnsemblGeneIds (GRCh38): ENSG00000174080
EnsemblGeneIds (GRCh37): ENSG00000174080
OMIM: 603539, Gene2Phenotype
CTSF is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Adult onset neurodegenerative disorder.
Created: 30 Nov 2019, 12:40 a.m. | Last Modified: 30 Nov 2019, 12:40 a.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362
OMIM
603539
Clinvar variants
Variants in CTSF
Penetrance
None
Panels with this gene

History Filter Activity

30 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsf has been classified as Red List (Low Evidence).

30 Nov 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362

30 Nov 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

30 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsf has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTSF was added gene: CTSF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTSF was set to Unknown