CTSF

cathepsin F
OMIM: 603539, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber CTSF in Lysosomal storage disorder Version 1.78 Latest signed off version: v1.2 (18 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362 neuronal ceroid lipofuscinosis 13 MONDO:0014147 Tags Q2_21_rating
Green CTSF in Neuronal ceroid lipofuscinosis Version 1.23 Latest signed off version: v1.3 (15 Oct 2020)	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 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.315 Latest signed off version: v2.2 (2 Mar 2020)	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 Neurodegenerative disorders - adult onset Version 2.275 Latest signed off version: v2.178 (5 Aug 2021)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
Amber CTSF in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.572 Latest signed off version: v2.2 (13 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362
Red CTSF in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1677 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	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 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 2.285 Latest signed off version: v2.195 (5 Aug 2021)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
Green CTSF in Severe Paediatric Disorders Version 1.127	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362