Gene
WDR19
WD repeat domain 19
- HGNC 18340(opens in a new tab)
- Ensembl gene ENSG00000157796(opens in a new tab)
- NCBI Gene 57728(opens in a new tab)
Summary
- Cytogenetic location
- 4p14
- Coordinates
- Chromosome 4: 39,182,529–39,285,810 (GRCh38)
- Exons
- 37 exons across 103.3 kb
- Protein
- 1,342 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13, FAP66, CFAP66
- MANE Select transcript
- ENST00000399820.8NM_025132.4
- 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.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Regular kidney and liver monitoring is advised.
Nephronophthisis and Senior-Løken Syndrome
- Senior-Løken SyndromeAutosomal recessive
A form of nephronophthisis combined with retinal degeneration that can cause early vision loss.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing prompts referral for an eye examination alongside kidney monitoring.
- NephronophthisisAutosomal recessive
A recessively inherited kidney disease, caused by variants in NPHP1 and other cilia genes, in which progressive tubulointerstitial scarring leads to kidney failure, typically in the first three decades of life.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing allows regular kidney function monitoring, timely planning for dialysis or transplantation, and carrier testing for relatives.
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.
- 2 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 WDR19 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 4.4 kb of the gene's 103.3 kb; 4,029 of those bases code for the protein.
How a genome test reads WDR19
116
positions in WDR19 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 WDR19, introns included, not only the 4.4 kb of exons.
Traits linked to WDR19
The Human Phenotype Ontology lists these as features of the rare conditions WDR19 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the genitourinary system
- Absent sperm axoneme central pair complex
- Absent sperm flagella
- Chronic tubulointerstitial nephritis
- Coiled sperm flagella
- Global glomerulosclerosis
- Glomerular subepithelial immune-complex deposits
- Glomerulonephritis
- Irregularly shaped sperm tail
Show 13 more traits
- Male infertility
- Multilamellation of medullary peritubular capillary basement membranes
- Nephronophthisis
- Reduced progressive sperm motility
- Short sperm flagella
- Small kidneys
- Stage 5 chronic kidney disease
- Chronic kidney disease
- Early menopause
- Glomerular sclerosis
- Renal interstitial fibrosis
- Kidney damage
- Renal failure
Abnormality of limbs
- Acetabular spurs
- Broad outermost finger bone
- Broad shaft of long bone
- Broad wide portion of long bone
- Disproportionately short upper portion of limb
- Pes valgus
- Short fingers or toes
- Short foot
Show 12 more traits
- Wide toe bones
- Abnormal shape of shaft of long bone
- Abnormality of the wide portion of a long bone
- Short outermost finger bone
- Smaller or shorter than typical limbs
- Finger syndactyly
- Webbed fingers
- Curvature of little finger
- Extra little finger
- Extra toe attached near the little toe
- Fused toes
- More than five fingers or toes on hands or feet
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.). WDR19 gene: WD repeat domain 19. Retrieved 17 October 2026, from https://dantelabs.com/genes/wdr19
Dante Labs. WDR19 gene: WD repeat domain 19 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/wdr19
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