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
- KBG syndrome (AD)
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Atrioventricular septal defect
- Aortic stenosis
- Mitral stenosis
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.
- 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 ANKRD11: BED file
Genome browser powered by igv.js
Selected References
- 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
- 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
- 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