CTSF

cathepsin F
OMIM: 603539, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CTSF in Lysosomal storage disorder Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	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 Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	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 4.68 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
Amber CTSF in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 Expert Review Amber Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362 neuronal ceroid lipofuscinosis 13 MONDO:0014147 Tags Q4_23_promote_green
Amber CTSF in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.195 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) 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 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	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 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362