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Severe Paediatric Disorders

Gene: ABL1

Green List (high evidence)

ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000097007
EnsemblGeneIds (GRCh37): ENSG00000097007
OMIM: 189980, Gene2Phenotype
ABL1 is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ABL1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Congenital heart defects and skeletal malformations syndrome, 617602 (3) | Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 (3); Mode of inheritance: Autosomal dominant | Somatic mutation
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome, 617602
  • Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232
OMIM
189980
Clinvar variants
Variants in ABL1
Penetrance
None
Publications
Panels with this gene