TLL1 tolloid like 1

Gene info



Previous symbol


External ID

HGNC: 11843
Entrez Gene: 7092
Ensembl: ENSG00000038295
UCSC: uc003irh.3
OMIM: 606742
UniProtKB: O43897

Disease info


CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mice homozygous for a single base mutation or homozygous for a null allele have CHD


Variant info


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 TLL1: BED file

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Selected References

  1. Stańczak, P., Witecka, J., Szydło, A., Gutmajster, E., Lisik, M., Auguściak-Duma, A., Tarnowski, M., Czekaj, T., Czekaj, H., & Sieroń, A. L. (2008). Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. European Journal of Human Genetics, 17(3), 344–351. DOI:10.1038/ejhg.2008.175 PMID:18830233
  2. LaHaye, S., Corsmeier, D., Basu, M., Bowman, J. L., Fitzgerald-Butt, S., Zender, G., Bosse, K., McBride, K. L., White, P., & Garg, V. (2016). Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease. Circulation: Cardiovascular Genetics, 9(4), 320–329. DOI:10.1161/CIRCGENETICS.115.001324 PMID:27418595