Spermatogenic failure 72: genes and variants
Spermatogenic failure 72 is linked to 2 analyzed proteins (WDR19 and XRCC2). 3 DNA variants are known to cause it; 69 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: spermatogenic failure 50
Genes linked to Spermatogenic failure 72
WDR19: WD repeat-containing protein 19
Part of the intraflagellar transport A complex, which moves cargo backward through cilia and helps proteins enter the ciliary compartment. By supporting cilium assembly and receptor trafficking, WDR19 contributes to kidney, retinal, skeletal, and reproductive biology.
3 disease-causing and 62 uncertain variants in WDR19 are linked to Spermatogenic failure 72.
XRCC2: DNA repair protein XRCC2
It acts with other RAD51 paralogs to assemble and stabilize homologous-recombination repair machinery at DNA double-strand breaks. Biallelic loss-of-function variants can cause Fanconi-anemia-like chromosome-instability disease, while heterozygous cancer-risk associations are less certain.
0 disease-causing and 7 uncertain variants in XRCC2 are linked to Spermatogenic failure 72.
Known disease-causing variants in Spermatogenic failure 72
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| WDR19 G294R | 294 | WD 5 | Disease-causing (★★) |
| WDR19 F5S | 5 | Disease-causing (★★) | |
| WDR19 N273D | 273 | WD 5 | Disease-causing (★★) |
Same protein, different disease
- Senior-Loken syndrome is also caused by WDR19 variants; they fall mostly in different places as the Spermatogenic failure 72 variants (8 disease-causing).
- Asphyxiating thoracic dystrophy 5 is also caused by WDR19 variants; they fall mostly in different places as the Spermatogenic failure 72 variants (7 disease-causing).
- Nephronophthisis is also caused by WDR19 variants; they fall mostly in different places as the Spermatogenic failure 72 variants (7 disease-causing).
Diseases related to Spermatogenic failure 72
- Fanconi anemia, also linked to XRCC2
- Connective tissue disorder, also linked to WDR19
- Senior-Loken syndrome, also linked to WDR19
- Nephronophthisis, also linked to WDR19
- Asphyxiating thoracic dystrophy 5, also linked to WDR19
- Premature ovarian failure, also linked to XRCC2
- Cranioectodermal dysplasia, also linked to WDR19
Frequently asked questions
Which genes are linked to Spermatogenic failure 72?
In CATVariant, Spermatogenic failure 72 is linked to 2 analyzed proteins: WDR19 (WD repeat-containing protein 19) and XRCC2 (DNA repair protein XRCC2).
How many genetic variants are linked to Spermatogenic failure 72?
87 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 69 are of uncertain significance or have conflicting reports.
Which uncertain variants in Spermatogenic failure 72 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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