{ "url": "https://dantelabs.com/genes/ctsf", "gene": { "slug": "ctsf", "symbol": "CTSF", "name": "cathepsin F", "hgnc": "HGNC:2531", "summary": null, "location": "11q13.2", "locusType": "gene with protein product", "aliases": [ "CATSF", "CLN13" ], "previousSymbols": [], "ensemblId": "ENSG00000174080", "entrezId": 8722, "omim": [ "603539" ], "uniprot": [ "Q9UBX1" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 66563464, "end": 66568606, "strand": "-", "ensemblTranscript": "ENST00000310325.10", "refseqTranscript": "NM_003793.4", "ensemblProtein": "ENSP00000310832.5", "refseqProtein": "NP_003784.2", "exons": [ { "start": 66563464, "end": 66564007 }, { "start": 66564088, "end": 66564146 }, { "start": 66564558, "end": 66564648 }, { "start": 66564742, "end": 66564806 }, { "start": 66564887, "end": 66565006 }, { "start": 66565671, "end": 66565751 }, { "start": 66565831, "end": 66565927 }, { "start": 66566022, "end": 66566167 }, { "start": 66566291, "end": 66566404 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66616626, "end": 66646469, "strand": "+", "slug": "rbm14-rbm4" }, { "symbol": "RBM4", "ensemblId": "ENSG00000173933", "biotype": "protein_coding", "start": 66637771, "end": 66668380, "strand": "+", "slug": "rbm4" }, { "symbol": "RBM4B", "ensemblId": "ENSG00000173914", "biotype": "protein_coding", "start": 66664994, "end": 66677925, "strand": "-", "slug": "rbm4b" }, { "symbol": "SPTBN2", "ensemblId": "ENSG00000173898", "biotype": "protein_coding", "start": 66682496, "end": 66744670, "strand": "-", "slug": "sptbn2" }, { "symbol": "TOP6BL", "ensemblId": "ENSG00000173715", "biotype": "protein_coding", "start": 66744451, "end": 66843516, "strand": "+", "slug": "top6bl" }, { "symbol": "RCE1", "ensemblId": "ENSG00000173653", "biotype": "protein_coding", "start": 66842835, "end": 66848159, "strand": "+", "slug": "rce1" }, { "symbol": "PC", "ensemblId": "ENSG00000173599", "biotype": "protein_coding", "start": 66848208, "end": 66958524, "strand": "-", "slug": "pc" }, { "symbol": "LRFN4", "ensemblId": "ENSG00000173621", "biotype": "protein_coding", "start": 66856546, "end": 66860475, "strand": "+", "slug": "lrfn4" }, { "symbol": "C11orf86", "ensemblId": "ENSG00000173237", "biotype": "protein_coding", "start": 66975272, "end": 66977009, "strand": "+", "slug": "c11orf86" }, { "symbol": "SYT12", "ensemblId": "ENSG00000173227", "biotype": "protein_coding", "start": 67006772, "end": 67051110, "strand": "+", "slug": "syt12" }, { "symbol": "RHOD", "ensemblId": "ENSG00000173156", "biotype": "protein_coding", "start": 67056608, "end": 67072044, "strand": "+", "slug": "rhod" } ], "truncated": false }, "reports": [ { "slug": "neuronal-ceroid-lipofuscinosis", "name": "Neuronal Ceroid Lipofuscinosis", "diseases": [ { "mondoId": "MONDO:0016295", "name": "Neuronal Ceroid Lipofuscinosis", "genes": 13, "inheritance": "autosomal-recessive", "description": "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/conditions/neuronal-ceroid-lipofuscinosis" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Inherited Neurodegenerative Disorders", "diseases": [ { "mondoId": "MONDO:0024237", "name": "KIF5A-Related Neurodegenerative Disorder", "genes": 372, "inheritance": "autosomal-dominant", "description": "Caused by changes in one copy of KIF5A, which encodes a motor protein with a cargo-binding tail. Different types of change lead to different conditions: hereditary spastic paraplegia type 10, an axonal form of Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS).", "management": "Care is symptomatic and depends on the presentation, including physiotherapy, antispasticity medicines and multidisciplinary ALS care. Each child of an affected person has a 1 in 2 chance of inheriting the change; genetic counselling helps families understand this.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/conditions/inherited-neurodegenerative-disorders-selected-genes" }, { "slug": "lysosomal-storage-disease", "name": "Lysosomal Storage Disease", "diseases": [ { "mondoId": "MONDO:0002561", "name": "Lysosomal storage disease (other and unspecified types)", "genes": 59, "inheritance": null, "description": "Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/conditions/lysosomal-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "confusion", "name": "Confusion", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/confusion" }, { "slug": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "diffuse-cerebral-atrophy", "name": "Diffuse cerebral atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diffuse-cerebral-atrophy" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "neuronal-loss-in-central-nervous-system", "name": "Loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neuronal-loss-in-central-nervous-system" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "primitive-reflex", "name": "Primitive reflex", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/primitive-reflex" }, { "slug": "focal-onset-seizure", "name": "Seizure affecting one half of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-onset-seizure" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [ { "slug": "clcn6", "symbol": "CLCN6", "name": "Cl-/H+ antiporter 6", "shared": 3, "url": "https://dantelabs.com/genes/clcn6" }, { "slug": "cln3", "symbol": "CLN3", "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin", "shared": 3, "url": "https://dantelabs.com/genes/cln3" }, { "slug": "cln5", "symbol": "CLN5", "name": "CLN5 lysosomal BMP synthase", "shared": 3, "url": "https://dantelabs.com/genes/cln5" }, { "slug": "cln6", "symbol": "CLN6", "name": "CLN6 transmembrane ER protein", "shared": 3, "url": "https://dantelabs.com/genes/cln6" }, { "slug": "cln8", "symbol": "CLN8", "name": "CLN8 transmembrane ER and ERGIC protein", "shared": 3, "url": "https://dantelabs.com/genes/cln8" }, { "slug": "ctsd", "symbol": "CTSD", "name": "cathepsin D", "shared": 3, "url": "https://dantelabs.com/genes/ctsd" }, { "slug": "dnajc5", "symbol": "DNAJC5", "name": "DnaJ heat shock protein family (Hsp40) member C5", "shared": 3, "url": "https://dantelabs.com/genes/dnajc5" }, { "slug": "grn", "symbol": "GRN", "name": "granulin precursor", "shared": 3, "url": "https://dantelabs.com/genes/grn" }, { "slug": "kctd7", "symbol": "KCTD7", "name": "potassium channel tetramerization domain containing 7", "shared": 3, "url": "https://dantelabs.com/genes/kctd7" }, { "slug": "mfsd8", "symbol": "MFSD8", "name": "major facilitator superfamily domain containing 8", "shared": 3, "url": "https://dantelabs.com/genes/mfsd8" }, { "slug": "ppt1", "symbol": "PPT1", "name": "palmitoyl-protein thioesterase 1", "shared": 3, "url": "https://dantelabs.com/genes/ppt1" }, { "slug": "tpp1", "symbol": "TPP1", "name": "tripeptidyl peptidase 1", "shared": 3, "url": "https://dantelabs.com/genes/tpp1" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }