TLL1 tolloid like 1
Gene info
Synonyms
None
Previous symbol
None
External ID
HGNC: 11843
Entrez Gene: 7092
Ensembl: ENSG00000038295
UCSC: uc003irh.3
OMIM:
606742
UniProtKB:
O43897
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Patent ductus arteriosus
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Mice homozygous for a single base mutation or homozygous for a null allele have CHD
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
No variant passing our criteria was found for TLL1.
Selected References
- Stańczak, P., Witecka, J., Szydło, A., Gutmajster, E., Lisik, M., Auguściak-Duma, A., … 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
- LaHaye, S., Corsmeier, D., Basu, M., Bowman, J. L., Fitzgerald-Butt, S., Zender, G., … 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