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

Disease

Structural heart defects and renal anomalies syndrome (AR)

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

Variable expressivity

Yes

Animal model

Mouse study

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.

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