CTSF

cathepsin F
OMIM: 603539, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green CTSF in Lysosomal storage disorder Level 2: Metabolic Version 3.6 Latest signed off version: v3.5 (6 May 2026)	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 9.3 Latest signed off version: v9.0 (6 May 2026)	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 9.1 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	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 9.4 Latest signed off version: v9.0 (6 May 2026) 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
Green CTSF in Early onset or syndromic epilepsy Level 2: Neurology Version 9.8 Latest signed off version: v9.0 (6 May 2026) 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 Green NHS GMS Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362 neuronal ceroid lipofuscinosis 13, MONDO:0014147
Red CTSF in Intellectual disability Level 2: Developmental disorders Version 10.18 Latest signed off version: v10.0 (6 May 2026) 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 9.4 Latest signed off version: v9.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362