WASHC5 WASH complex subunit 5

Gene info

Synonyms

None

Previous symbol

SPG8, KIAA0196

External ID

HGNC: 28984
Entrez Gene: 9897
Ensembl: ENSG00000164961
UCSC: uc003yrt.4
OMIM: 610657
UniProtKB: Q12768

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus

Extra Cardiac Phenotype

Facial dysmorphism, Neurodevelopmental delay, Dandy-Walker cerebellar malformation, Ocular coloboma

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

MGI: homozygous null mice die well prior to E13.5 as no evidence of conceptus. In heterozygous null mice no cardiovascular defect recorded.

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for WASHC5: BED file

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Selected References

  1. Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., … 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. DOI:10.1136/jmedgenet-2013-101715
  2. 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. DOI:10.1016/j.ijscr.2014.10.098 PMID:25434475