Gene
NFIX
nuclear factor I X
- HGNC 7788↗(opens in a new tab)
- Ensembl gene ENSG00000008441↗(opens in a new tab)
- NCBI Gene 4784↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.13
- Coordinates
- Chromosome 19: 12,995,475–13,098,796 (GRCh38)
- Exons
- 11 exons across 103.3 kb
- Protein
- 502 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- NF1A
- MANE Select transcript
- ENST00000592199.6NM_001365902.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)
- Malan syndromeAutosomal dominant
An overgrowth syndrome caused by NFIX variants or deletions, with tall stature, a large head, intellectual disability and often eye problems.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How NFIX is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6 kb of the gene's 103.3 kb; 1,509 of those bases code for the protein.
How a genome test reads NFIX
89
positions in NFIX where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 103.3 kb of NFIX, introns included, not only the 6 kb of exons.
Traits linked to NFIX
The Human Phenotype Ontology lists these as features of the rare conditions NFIX can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Anterior position of the premaxilla
- Big calvaria
- High forehead
- Abnormal facial shape
- Abnormally small head
- Downward slanting of the opening between the eyelids
- Long face
- Midface retrusion
Show 51 more traits
- Narrow face
- Nasal tip, upturned
- Prominent forehead
- Receding chin
- Big lower jaw
- Broad forehead
- Corners of eye widely separated
- Decreased size of tooth
- Depressed nasal bridge
- Drooling
- Drooping lower lip
- Early eruption of teeth
- Extra bones within cranial sutures
- Eye folds
- Frontal bossing
- Full lips
- Gum enlargement
- High palate
- Highly arched eyebrow
- Irregular teeth
- Little lower jaw
- Long, narrow head
- Low hairline at back of neck
- Narrow mouth
- Open mouth
- Outward turned lips
- Oval face
- Prominent back of the head
- Prominent nose
- Protruding tongue
- Recurrent colds
- Short nose
- Short philtrum
- Small retruded chin
- Triangular face
- Asymmetry of the posterior head
- Blockage of the rear opening of the nasal cavity
- Cleft palate
- Deformity of the skull
- Facial asymmetry
- Narrowing of the rear opening of the nasal cavity
- Pointed chin
- Scaphocephaly
- Sloping forehead
- Underdeveloped tissue around nostril
- Upward slanting of the opening between the eyelids
- Decreased depth of eye sockets
- Monobrow
- Retraction of the tongue
- Short mandibular rami
- Thick eyebrow
Abnormality of the nervous system
- Anxiety
- Delayed speech and language development
- Global developmental delay
- Intellectual disability
- IQ between 34 and 49
- Absent septum pellucidum
- Absent speech development
- Autism spectrum disorder
Show 23 more traits
- Brisk reflexes
- Delayed ability to walk
- Fewer and broader ridges in brain
- Motor delay
- Obstructive sleep apnea
- Too much cerebrospinal fluid in the brain
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Cervical cord compression
- Degeneration of cerebrum
- Epilepsy
- Episodic ataxia
- Febrile seizure (within the age range of 3 months to 6 years)
- Intellectual disability, mild
- Intellectual disability, severe
- Irritability
- Lateral ventricle dilatation
- Migraine
- More active than typical
- Self-injurious behavior
- Small brainstem
- Small cerebellum
- Agenesis of corpus callosum
Abnormality of the musculoskeletal system
- Advanced bone age
- Double-Jointed
- Low muscle tone
- Slender long bone
- Abnormal formation of the hip
- Atlantoaxial dislocation
- Decreased hip abduction
- Funnel chest
Show 15 more traits
- Hunched back
- Increased susceptibility to fractures
- Kyphoscoliosis
- Low muscle tone in trunk
- Low muscle tone, in neonatal onset
- Low solidness and mass of the bones
- Scoliosis
- Thoracic kyphosis
- Thoracic scoliosis
- Osteoporosis
- Recurrent fractures
- Spasticity and rigidity of muscles
- Hypoplasia of the odontoid process
- Large sternal ossification centers
- Short sternum
Abnormality of the cardiovascular system
- Cutis marmorata
- Dysplastic aortic valve
- Abnormal cardiovascular system morphology
- An opening in the wall separating the top two chambers of the heart
- Extra heart beat
- Hole in heart wall separating two lower heart chambers
- Increased blood pressure in blood vessels of lungs
- Patent ductus arteriosus
Show 1 more trait
Abnormality of the digestive system
- Feeding difficulties
- Feeding difficulties in infancy
- Acid reflux
- Anteriorly placed anus
- Constipation
- Episodic vomiting
- Pyloric stenosis
- Umbilical hernia
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). NFIX gene: nuclear factor I X. Retrieved 17 October 2026, from https://dantelabs.com/genes/nfix
Dante Labs. NFIX gene: nuclear factor I X [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nfix
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