Gene
WDR35
WD repeat domain 35
- HGNC 29250(opens in a new tab)
- Ensembl gene ENSG00000118965(opens in a new tab)
- NCBI Gene 57539(opens in a new tab)
Summary
- Cytogenetic location
- 2p24.1
- Coordinates
- Chromosome 2: 19,910,263–19,990,105 (GRCh38)
- Exons
- 27 exons across 79.8 kb
- Protein
- 1,170 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- MGC33196, KIAA1336, IFT121, IFTA1, FAP118, CFAP118
- MANE Select transcript
- ENST00000281405.9NM_020779.4
- 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 WDR35 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 6.9 kb of the gene's 79.8 kb; 3,513 of those bases code for the protein.
How a genome test reads WDR35
57
positions in WDR35 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 79.8 kb of WDR35, introns included, not only the 6.9 kb of exons.
Traits linked to WDR35
The Human Phenotype Ontology lists these as features of the rare conditions WDR35 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Corners of eye widely separated
- Decreased size of tooth
- Deformity of the skull
- Drooping lower lip
- Frontal bossing
- Fused teeth
- Long, narrow head
- Narrow eyelid opening
Show 40 more traits
- Short neck
- Widely spaced teeth
- Abnormal dentition
- Eye folds
- Prominent back of the head
- Big calvaria
- Cleft upper lip
- Depressed nasal bridge
- Failure of development of between one and six teeth
- Little lower jaw
- Long philtrum
- Nasal tip, upturned
- Wide nose
- Abnormal tooth enamel
- Cleft of the face
- Cleft tongue
- Dandy-Walker malformation
- Taurodontia
- Cleft palate
- Absence of adult teeth
- Asymmetry of the posterior head
- Broad philtrum
- Cloverleaf cranium shape
- Cystic hygroma
- Full cheeks
- High forehead
- High palate
- Metopic synostosis
- Midface retrusion
- Narrow forehead
- Narrow opening between the eyelids
- Receding chin
- Short lingual frenulum
- Short uvula
- Smooth philtrum
- Sparse eyebrow
- Sparse eyelashes
- Sparse or absent eyebrows
- Upward slanting of the opening between the eyelids
- Wide nasal bridge
Abnormality of limbs
- Disproportionately short upper portion of limb
- Short fingers or toes
- Webbed fingers or toes
- Abnormal shape of shaft of long bone
- Abnormality of the wide portion of a long bone
- Short foot
- Short outermost finger bone
- Short palm
Show 11 more traits
Abnormality of the genitourinary system
- Ambiguous external genitalia
- Double uterus
- Hydronephrosis
- Small kidneys
- Underdeveloped penis
- Undescended testes
- Urethrovaginal fistula
- Cystic kidney disease
Show 3 more traits
Abnormality of the eye
- Wide-set eyes
- Abnormally close eyes
- Cross-eyed
- Dropping of one upper eyelid
- Farsightedness
- Close sighted
- Clouding of the lens of the eye
- Involuntary, rapid, rhythmic eye movements
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.). WDR35 gene: WD repeat domain 35. Retrieved 17 October 2026, from https://dantelabs.com/genes/wdr35
Dante Labs. WDR35 gene: WD repeat domain 35 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/wdr35
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