TMEM260 transmembrane protein 260

Gene info

Synonyms

None

Previous symbol

C14orf101

External ID

HGNC: 20185
Entrez Gene: 54916
Ensembl: ENSG00000070269
UCSC: uc001xcm.4
OMIM: 617449
UniProtKB: Q9NX78

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Truncus arteriosus
  • Tricuspid valve atresia
  • Tetralogy of fallot
  • Interrupted aortic arch
  • Right aortic arch
  • Partial anomalous pulmonary venous return
  • Persistent left superior vena cava

Extra Cardiac Phenotype

Renal failure, Renal cysts, Horse-shoe kidney, Generalised edema, Partial agenesis of the corpus callosum, Webbed neck, Postaxial polydactyly, Low-set ears, Bilateral preauricular skin tags, Microcephaly

Incomplete penetrance

No

Variable expressivity

Yes

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

2443219

Variant info

Clinvar

TMEM260

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

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Selected References

  1. Pagnamenta, A. T., Jackson, A., Perveen, R., Beaman, G., Petts, G., Gupta, A., Hyder, Z., Chung, B. H., Kan, A. S., Cheung, K. W., Kerstjens‐Frederikse, W. S., Abbott, K. M., Elpeleg, O., Taylor, J. C., Banka, S., & Ta‐Shma, A. (2021). Biallelic <scp>TMEM260</scp> variants cause truncus arteriosus, with or without renal defects. Clinical Genetics, 101(1), 127–133. Portico. https://doi.org/10.1111/cge.14071 DOI:10.1111/cge.14071 PMID:34612517
  2. Ta-Shma, A., Khan, T. N., Vivante, A., Willer, J. R., Matak, P., Jalas, C., Pode-Shakked, B., Salem, Y., Anikster, Y., Hildebrandt, F., Katsanis, N., Elpeleg, O., & Davis, E. E. (2017). Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. The American Journal of Human Genetics, 100(4), 666–675. https://doi.org/10.1016/j.ajhg.2017.02.007 DOI:10.1016/j.ajhg.2017.02.007 PMID:28318500