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Intellectual disability

Gene: CTSF

Amber List (moderate evidence)

CTSF (cathepsin F)
EnsemblGeneIds (GRCh38): ENSG00000174080
EnsemblGeneIds (GRCh37): ENSG00000174080
OMIM: 603539, Gene2Phenotype
CTSF is in 7 panels

6 reviews

Arina Puzriakova (Genomics England Curator)

Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark
Created: 17 Aug 2020, 9:32 a.m. | Last Modified: 17 Aug 2020, 9:32 a.m.
Panel Version: 3.251

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Adult onset neurodegenerative disorder, rather than ID.
Created: 1 Feb 2020, 7:14 a.m. | Last Modified: 1 Feb 2020, 7:14 a.m.
Panel Version: 3.0

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

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as amber as age at onset is in the 20s
Created: 21 Nov 2017, 4:21 p.m.

Ellen McDonagh (Genomics England Curator)

I don't know

Variants in this gene cause Ceroid lipofuscinosis, neuronal, 13, Kufs type, which is adult-onset and involves progressive cognitive decline. This therefore doesn't seem to fit with the ID panel phenotype, however this should be checked with clinical team and whether the gene should be applied to a neurodegenerative panel as green instead.
Created: 27 Oct 2017, 2:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ceroid lipofuscinosis, neuronal, 13, Kufs type

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_manual . Main mutation mechanism : Missense and Loss of function
Created: 27 Jul 2017, 5:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Manual assessment of Genes of interest from literature searches and personal communication

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 11:24 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type
OMIM
603539
Clinvar variants
Variants in CTSF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CTSF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene CTSF was set to ['23746550']

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

CTSF was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

CTSF was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene