Genomics England
GMS Panels
Panels
Genes and Entities

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase
OMIM: 189980
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital heart defects and skeletal malformations 617602
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital heart defects and skeletal malformations, OMIM:617602, Congenital heart defects and skeletal malformations syndrome, MONDO:0060532
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital heart defects and skeletal malformations syndrome 617602
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Failure to thrive in infancy (HP:0001531), Generalized joint laxity (HP:0002761), Ascending aortic dilation (HP:0004970), Congenital finger flexion contractures (HP:0005879), Hypospadias (HP:0000047), Pectus excavatum (HP:0000767), Congenital heart defects and skeletal malformations syndrome, 617602, Scoliosis (HP:0002650), Congenital septal defect (HP:0004760)