ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase

Gene info

Synonyms

JTK7, c-ABL, p150

Previous symbol

ABL

External ID

HGNC: 76
Entrez Gene: 25
Ensembl: ENSG00000097007
UCSC: uc004bzv.4
OMIM: 189980
UniProtKB: P00519

Disease info

CHD Phenotype

  • 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

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

Homozygous KO mice have cardiac hyperplasia but not CHD. Heterozygous mutation creates gain of function (phosphorilation).

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 ABL1: BED file

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Selected References

  1. 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 PMID:30855488
  2. 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 PMID:28288113