WASHC5 WASH complex subunit 5
- Atrial septal defect
- Ventricular septal defect
- Patent ductus arteriosus
Extra Cardiac Phenotype
Facial dysmorphism, Neurodevelopmental delay, Dandy-Walker cerebellar malformation, Ocular coloboma
MGI: Homozygous knockout mice die well prior to E13.5 as no evidence of conceptus. In heterozygous knockout mice no cardiovascular defect recorded.
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for WASHC5: BED file
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- Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., & Zelinski, T. (2013). A novel mutation inKIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort. Journal of Medical Genetics, 50(12), 819–822. https://doi.org/10.1136/jmedgenet-2013-101715 DOI:10.1136/jmedgenet-2013-101715 PMID:24065355
- Konya, M. N., Elmas, M., Erginoğlu, S. E., & Yeşil, M. (2015). A rare case of 3C disease: Ritscher–Schinzel syndrome presenting with recurrent talipes equinovarus. International Journal of Surgery Case Reports, 7, 130–133. https://doi.org/10.1016/j.ijscr.2014.10.098 DOI:10.1016/j.ijscr.2014.10.098 PMID:25434475