Gene
IFT122
intraflagellar transport 122
- HGNC 13556(opens in a new tab)
- Ensembl gene ENSG00000163913(opens in a new tab)
- NCBI Gene 55764(opens in a new tab)
Summary
- Cytogenetic location
- 3q21.3-q22.1
- Coordinates
- Chromosome 3: 129,440,224–129,520,507 (GRCh38)
- Exons
- 30 exons across 80.3 kb
- Protein
- 1,241 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- WDR140, WDR10p, SPG, FAP80, CFAP80
- Previous symbols
- WDR10
- MANE Select transcript
- ENST00000348417.7NM_052989.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Ellis-van Creveld Syndrome and Cranioectodermal Dysplasia
- Cranioectodermal dysplasiaAutosomal recessive
A ciliopathy with skull shape changes, short limbs, sparse hair and dental anomalies, and a risk of progressive kidney disease.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Regular kidney and liver monitoring is advised.
Syndromic Craniosynostosis
Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How IFT122 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 4.1 kb of the gene's 80.3 kb; 3,726 of those bases code for the protein.
How a genome test reads IFT122
81
positions in IFT122 where ClinVar classes a change as pathogenic or likely pathogenic
15 of them (19%) fall in regions short reads find hard.
- Low mappability (10 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (12 sites)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.
A whole genome covers all 80.3 kb of IFT122, introns included, not only the 4.1 kb of exons.
Traits linked to IFT122
The Human Phenotype Ontology lists these as features of the rare conditions IFT122 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Corners of eye widely separated
- Full cheeks
- High forehead
- Wide nasal bridge
- Abnormal dentition
- Decreased size of tooth
- Eye folds
- Frontal bossing
Show 15 more traits
- Long, narrow head
- Prominent back of the head
- Deformity of the skull
- Drooping lower lip
- Failure of development of between one and six teeth
- Nasal tip, upturned
- Abnormal tooth enamel
- Taurodontia
- Early closure of midline skull joint
- Failure of development of all teeth
- High palate
- High, narrow palate
- Scaphocephaly
- Thin dental enamel
- Widely spaced teeth
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.). IFT122 gene: intraflagellar transport 122. Retrieved 16 October 2026, from https://dantelabs.com/genes/ift122
Dante Labs. IFT122 gene: intraflagellar transport 122 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ift122
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