Gen
SMC1A
structural maintenance of chromosomes 1A
- HGNC 11111(åbnes i en ny fane)
- Ensembl-gen ENSG00000072501(åbnes i en ny fane)
- NCBI Gene 8243(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- Xp11.22
- Koordinater
- Kromosom X: 53.374.149–53.422.654 (GRCh38)
- Exoner
- 25 exoner fordelt over 48,5 kb
- Protein
- 1.233 aminosyrer
- Også kendt som
- DXS423E, KIAA0178, SB1.8, Smcb
- Tidligere symboler
- SMC1L1
- MANE Select-transkript
- ENST00000322213.9NM_006306.4
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Læs SMC1A og resten af dit genom med én test.
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Bestil min Genome TestKurerede rapporter relevant for dette gen
Cornelia de Langes syndrom
En udviklingsforstyrrelse forårsaget af varianter i NIPBL, SMC1A, SMC3, RAD21, HDAC8 eller BRD4, med en bred vifte af sværhedsgrad.
- 3 GenCC-indsendere vurderer den som definitiv eller stærk
Hvad viden ændrer
Diagnosen vejleder i opfølgning af tilhørende problemer såsom refluks, hjertefejl samt høre- og synsproblemer.
Epilepsi (fuld panel)
- X-bundet kompleks neludviklingsforstyrrelse
En kompleks neludviklingsforstyrrelse, som nedarves X-bundet og er kendetegnet ved intellektuel funktionsnedsættelse, autisme og epilepsi.
- ClinGen vurderer forbindelsen som definitivt
- 1 GenCC-indsender vurderer den som definitiv eller stærk
- Epilepsi
Et af 171 gener, der er knyttet til det
En hjernelidelse, kendetegnet ved episoder med unormalt øget neuronal aktivitet, som giver midlertidige episoder med sensoriske eller motoriske neurologiske funktionsforstyrrelser eller psykiske funktionsforstyrrelser. Disse episoder kan ledsages af bevidsthedstab eller krampeanfald, men behøver ikke.
- 3 GenCC-indsendere vurderer den som definitiv eller stærk
Sådan er SMC1A 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 9,7 kb af genets 48,5 kb; 3.702 af disse baser koder for proteinet.
Sådan læser en genomtest SMC1A
155
positioner i SMC1A, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 48,5 kb af SMC1A, inklusive introner, og ikke kun de 9,7 kb eksoner.
Træk knyttet til SMC1A
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, SMC1A kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the nervous system
- Absent speech development
- Delayed ability to walk
- Delayed speech and language development
- EEG abnormality
- Epilepsy
- Global developmental delay
- Grand mal seizures
- Hypsarrhythmia
Vis 70 træk mere
- Infantile spasms
- Multifocal seizures
- Poor eye contact
- Repetitive movements
- Seizure affecting one half of brain
- Severe global developmental delay
- Abnormal gait
- Abnormality of movement
- Abnormally low-pitched voice
- Agitation
- Autism spectrum disorder
- Difficulty sleeping
- Intellectual disability
- Intellectual disability, severe
- Involuntary movements
- Loss of developmental milestones
- Loss of speech
- Stereotypical hand wringing
- Abnormal central motor function
- Abnormal morphology of the olfactory bulb
- Abnormal shape of brainstem
- Abnormal speech pattern
- Abnormality of the autonomic nervous system
- Anxiety
- Aplasia of the falx cerebri
- Apraxia
- Attention deficit
- Behavioral abnormality
- Depression
- Dystonia
- Hand apraxia
- Inability to coordinate movements when walking
- Inability to speak
- Inability to walk
- Irritability
- Lack of feeling, emotion, interest
- Lethargy
- Limb dystonia
- Limb myoclonus
- Loss of ability to walk
- Neonatal seizure
- Neural tube defect
- Obsessive compulsive behavior
- Oromotor apraxia
- Poor social interactions
- Restrictive behavior
- Sleep-wake cycle disturbance
- Specific learning disability
- Tongue thrusting
- Absent/small cerebellum
- Agenesis of corpus callosum
- Autism
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Delayed motor skills
- Developmental stagnation
- Generalized myoclonic seizure
- Impaired pain sensation
- Inappropriate crying
- Inappropriate laughter
- Intellectual disability, mild
- Panic attack
- Peripheral neuropathy
- Pill-rolling tremor
- Poor speech
- Semilobar holoprosencephaly
- Too much cerebrospinal fluid in the brain
- Tremor
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Cognitive impairment
Abnormality of head or neck
- Abnormally small head
- Dental crowding
- Highly arched eyebrow
- Midface retrusion
- Monobrow
- Narrow nose
- Receding chin
- Round face
Vis 38 træk mere
- Short nose
- Triangular face
- Broad head shape
- Curly eyelashes
- Decreased volume of lip
- Delayed eruption of teeth
- Depressed nasal bridge
- Downturned corners of mouth
- High palate
- Little lower jaw
- Long eyelashes
- Long philtrum
- Low frontal hairline
- Low hairline at back of neck
- Nasal tip, upturned
- Short neck
- Thick eyebrow
- Widely spaced teeth
- Bifid uvula
- Central cleft upper lip
- Cleft palate
- Development of small head that was not present at birth
- Flat nose
- Inflammation of eyelids
- Smooth philtrum
- Big calvaria
- Blockage of the rear opening of the nasal cavity
- Downward slanting of the opening between the eyelids
- Facial asymmetry
- Increased nuchal translucency
- Mono nostril
- Narrow forehead
- Only one upper front tooth
- Proboscis
- Short philtrum
- Thin red part of the upper lip
- Upward slanting of the opening between the eyelids
- Prominent nasal bridge
Abnormality of limbs
- Curvature of digit
- Short foot
- Small hand
- Attachment of thumb close to wrist
- Fused toes
- Shortened 1st long bone of hand
- Smaller or shorter than typical limbs
- Bilateral single transverse palmar creases
Vis 14 træk mere
- Curvature of little finger
- Elbow dislocation
- Fused forearm bones
- Abnormal morphology of ulna
- Abnormality of limbs
- Broad big toe
- Contracture of the proximal interphalangeal joint of the 3rd finger
- Hip dislocation
- Oligodactyly
- Talipes
- Tapered finger
- Webbed first and second toes
- Limited elbow movement
- Short fingers or toes
Abnormality of the musculoskeletal system
- Congenital diaphragmatic hernia
- Generalized decreased muscle tone
- Low muscle tone in trunk
- Permanent flexion of the finger or toe
- Scoliosis
- Spastic tetraparesis
- Spasticity and rigidity of muscles
- Delayed bone maturation
Vis 12 træk mere
- Functional motor deficit
- Abnormal muscle tone
- Decreased muscle tone in infant
- Involuntary muscle stiffness, contraction, or spasm
- Joint stiffness
- Low muscle tone
- Abnormal formation of the hip
- Abnormality of the skeletal system
- Flexed joint that cannot be straightened
- Funnel chest
- Hunched back
- Low muscle tone, in neonatal onset
Abnormality of the genitourinary system
- Hypospadias
- Multicystic kidney dysplasia
- Small labia majora
- Underdeveloped penis
- Undescended testes
- Vesicoureteral reflux
- Abnormality of the genitourinary system
- Abnormality of the uterus
Vis 2 træk mere
Abnormality of the cardiovascular system
- An opening in the wall separating the top two chambers of the heart
- Cutis marmorata
- Abnormal cardiovascular system morphology
- Abnormal heart rate variability
- Abnormality of the heart
- Enlarged and thickened heart muscle
- Hole in heart wall separating two lower heart chambers
- Partial anomalous pulmonary venous return
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.). SMC1A-genet: structural maintenance of chromosomes 1A. Hentet 16. oktober 2026, fra https://dantelabs.com/da/genes/smc1a
Dante Labs. SMC1A-genet: structural maintenance of chromosomes 1A [Internet]. [citeret 16. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/smc1a
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger