Gen
NF1
neurofibromin 1
- HGNC 7765(åbnes i en ny fane)
- Ensembl-gen ENSG00000196712(åbnes i en ny fane)
- NCBI Gene 4763(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 17q11.2
- Koordinater
- Kromosom 17: 31.094.977–31.377.675 (GRCh38)
- Exoner
- 58 exoner fordelt over 282,7 kb
- Protein
- 2.839 aminosyrer
- Arvelighed
- Autosomal dominant
- MANE Select-transkript
- ENST00000358273.9NM_001042492.3
- Lokustype
- gene with protein product
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome TestKurateret rapport relevant for dette gen
Neurofibromatose
- Autosomal dominant
Et arveligt neoplastisk syndrom, hvor svulster vokser i nervesystemet. Der anerkendes typisk 3 hovedtyper, men der findes også andre former med usikker ætiologi.
- ClinGen vurderer forbindelsen som definitivt
- 5 GenCC-indsendere vurderer den som definitiv eller stærk
Hvad viden ændrer
Genotype-fænotype-korrelation, MEK-hæmmerbehandling af ikke-opererbare plexiforme neurofibromer, tumorovervågning, kaskadetestning
Arvegang
- Autosomal dominant
- Én ændret kopi, fra enten far eller mor, er nok. En forælder med én ændret kopi overfører den til hvert barn med en chance på en ud af to.
Sådan er NF1 opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
- Regioner, som korte læsninger har svært ved
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 12,4 kb af genets 282,7 kb; 8.520 af disse baser koder for proteinet.
Sådan læser en genomtest NF1
3.594
positioner i NF1, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
1.698 af dem (47 %) ligger i regioner, som korte læsninger har svært ved.
- Low mappability (137 steder)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (1.698 steder)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
En helgenomsanalyse dækker alle 282,7 kb af NF1, inklusive introner, og ikke kun de 12,4 kb eksoner.
Træk knyttet til NF1
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, NF1 kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the nervous system
- Glioma
- Poor social interactions
- Short attention span
- Specific learning disability
- Abnormal central motor function
- Attention deficit
- Behavioral abnormality
- Brain imaging abnormality
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- Difficulty sleeping
- Episodic paroxysmal anxiety
- Global developmental delay
- Headache
- Intellectual disability
- Language impairment
- Memory impairment
- Migraine
- Moderate global developmental delay
- Neurodevelopmental delay
- Partial paralysis of legs
- Recurrent paroxysmal headache
- Speech articulation difficulties
- Split spine
- Autism spectrum disorder
- Brain neoplasm
- Brainstem glioma
- Cerebellar glioma
- Cranial nerve compression
- Delayed speech and language development
- Epilepsy
- Impaired visuospatial constructive cognition
- Inability to move vocal cords
- Multiple mucosal neuromas
- Optic nerve glioma
- Panic attack
- Peripheral nerve disease
- Recurrent subcortical infarcts
- Schwannoma
- Seizure affecting one half of brain
- Tremor
- Underdevelopment of part of brain called corpus callosum
- Astrocytoma
- Cancer of early nerve cells
- Dural ectasia
- Lower limb dysmetria
- Pilocytic astrocytoma
- Too much cerebrospinal fluid in the brain
- Aqueductal stenosis
- Hypsarrhythmia
- Intellectual disability, mild
- Noncancerous growth of membranes covering brain
Abnormality of head or neck
- Abnormality of the face
- Downward slanting of the opening between the eyelids
- Webbed neck
- Abnormal facial shape
- Abnormal tooth enamel
- Abnormally small head
- Big calvaria
- Broad neck
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- Coarse facial features
- Eye folds
- Full lips
- Lisch nodules
- Low hairline at back of neck
- Thin dental enamel
- Abnormal dental pulp morphology
- Abnormal internal carotid artery morphology
- Abnormality of the sphenoid sinus
- Broad forehead
- Cleft nasal bridge
- Decreased volume of lip
- Deviated nasal septum
- Facial asymmetry
- High palate
- Little lower jaw
- Long face
- Long philtrum
- Narrow forehead
- Prominent area between the eyebrows
- Retinal capillary hemangioma
- Sparse eyebrow
- Sparse eyelashes
- Thick nasal alae
- Zygomatic flattening
- Depressed nasal bridge
- Sinus disease
- Deep laugh lines
- Midface retrusion
- Relatively large head
- Short neck
- Sphenoid wing dysplasia
Abnormality of the cardiovascular system
- Enlarged and thickened heart muscle
- Narrowing of pulmonic valve
- Abnormality of the heart
- Abnormality of the lymphatic system
- Decrease in blood pressure upon standing up
- Fainting spell
- High blood pressure
- Hypertension associated with pheochromocytoma
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- Hypertensive retinopathy
- Palpitations
- Positive regitine blocking test
- Sinus tachycardia
- Telangiectasia of the skin
- Arachnoid hemangiomatosis
- Brain aneurysm
- Cardiac failure
- Disease of the heart muscle
- Hypertensive crisis
- Increased blood pressure in blood vessels of lungs
- Inflammation of heart muscle
- Narrowing of a cerebral artery
- Narrowing of aorta
- Narrowing of kidney artery
- Renovascular hypertension
- Retinal neovascularization
- Stroke
- An opening in the wall separating the top two chambers of the heart
- Hole in heart wall separating two lower heart chambers
- Mitral regurgitation
- Mitral stenosis
- Mitral valve prolapse
- Patent foramen ovale
- Strawberry mark
- Swelling or irritation of membrane around heart
- Secundum atrial septal defect
Abnormality of the musculoskeletal system
- Abdominal wall muscle weakness
- Abnormality of the chest
- Abnormality of the skeletal system
- Beaking of vertebral bodies T12-L3
- Bone cyst
- Double-Jointed
- Funnel chest
- Low muscle tone
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- Pigeon chest
- Scoliosis
- Abnormality of the vertebral column
- Breakdown of bone
- Hunched back
- Narrowing of medullary canal
- Osteopenia
- Osteoporosis
- Thickened cortex of long bones
- Embryonal rhabdomyosarcoma
- Fatty lump
- Kyphoscoliosis
- Prominent swayback
- Rhabdomyosarcoma
- Muscle weakness
- Pectus excavatum of inferior sternum
- Superior pectus carinatum
Abnormality of the eye
- Drooping upper eyelid
- Wide-set eyes
- Progressive loss of vision
- Abnormal choroid morphology
- Abnormally close eyes
- Blindness
- Bulging eye
- Cross-eyed
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Abnormality of limbs
- Large hands
- Long foot
- Outward turned elbows
- High-arched foot
- Knock knees
- Abnormality of the shankbone
- Bowed legs
- Diaphyseal dysplasia
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Abnormality of the endocrine system
- Pheochromocytoma
- Adrenal pheochromocytoma
- Extraadrenal pheochromocytoma
- Paraganglioma
- Paraganglioma of head and neck
- Delayed puberty
- Early onset of puberty
- Glomus jugular tumor
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Laboratory abnormality
- Elevated urinary dopamine
- Elevated urinary epinephrine level
- Elevated urinary norepinephrine level
- High blood calcium levels
- High urine protein levels
- Blood in urine
- Elevated calcitonin
- Elevated circulating parathyroid hormone level
Vis 1 træk mere
Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- GenCC og ClinGen, udgivet 2026-10-16: hvilke sygdomme genet er knyttet til, og hvor stærkt.
- ACMG-listen over sekundære fund, SF v3.2.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). NF1-genet: neurofibromin 1. Hentet 16. oktober 2026, fra https://dantelabs.com/da/genes/nf1
Dante Labs. NF1-genet: neurofibromin 1 [Internet]. [citeret 16. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/nf1
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger