ANKRD11 ankyrin repeat domain 11

Gene info

Synonyms

LZ16, T13

Previous symbol

None

External ID

HGNC: 21316
Entrez Gene: 29123
Ensembl: ENSG00000167522
UCSC: uc002fmx.3
OMIM: 611192
UniProtKB: Q6UB99

Disease info

Disease

CHD Phenotype

  • Aortic stenosis
  • Mitral stenosis
  • Mitral regurgitation
  • Ventricular septal defect
  • Atrioventricular septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: 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 ANKRD11: BED file

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Selected References

  1. Novara, F., Rinaldi, B., Sisodiya, S. M., Coppola, A., Giglio, S., Stanzial, F., … Zuffardi, O. (2017). Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. European Journal of Human Genetics, 25(6), 694–701. DOI:10.1038/ejhg.2017.49 PMID:28422132
  2. Miyatake, S., Okamoto, N., Stark, Z., Nabetani, M., Tsurusaki, Y., Nakashima, M., … Matsumoto, N. (2017). ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome. Journal of Human Genetics, 62(8), 741–746. DOI:10.1038/jhg.2017.24 PMID:28250421
  3. Ockeloen, C. W., Willemsen, M. H., de Munnik, S., van Bon, B. W., de Leeuw, N., Verrips, A., … Kleefstra, T. (2014). Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European Journal of Human Genetics, 23(9), 1176–1185. DOI:10.1038/ejhg.2014.253 PMID:25424714