TMEM260 transmembrane protein 260
Gene info
Synonyms
FLJ20392
Previous symbol
C14orf101
External ID
HGNC: 20185
Entrez Gene: 54916
Ensembl: ENSG00000070269
UCSC: uc001xcm.4
OMIM:
617449
UniProtKB:
Q9NX78
Disease info
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
No CHD in knockout mice
MGI ID
Variant info
Clinvar
Selected variant
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 TMEM260: BED file
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Selected References
- 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
- 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