ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
JTK7, c-ABL, p150
- Atrial septal defect
- Ventricular septal defect
Extra Cardiac Phenotype
Dysmorphic facies, Pectus excavatum, Scoliosis, digit deformities, hyperflexibility, Failure to thrive, Hypospadias, Hypogonadism, Gastrointestinal dysfunction, Ocular abnormalities, Intrauterine growth restriction
Homozygous KO mice have cardiac hyperplasia but not CHD. Heterozygous mutation creates gain of function (phosphorilation).
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 ABL1: BED file
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- Bravo-Gil, N., Marcos, I., González-Meneses, A., Antiñolo, G., & Borrego, S. (2019). Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome. Medicine, 98(10), e14782. DOI:10.1097/MD.0000000000014782
- Wang, X., Charng, W.-L., Chen, C.-A., Rosenfeld, J. A., Al Shamsi, A., Al-Gazali, L., … Yang, Y. (2017). Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nature Genetics, 49(4), 613–617. DOI:10.1038/ng.3815