ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase
OMIM: 189980, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ABL1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome (MIM# 617602)

Green ABL1 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome, MIM# 617602

Green ABL1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome (MIM# 617602)

Green ABL1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome MIM#617602

Green ABL1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome, 617602

Red ABL1 in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • Expert Review Red
  • NSW Health Pathology

Green ABL1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • Literature
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome, MONDO:0060532
  • Congenital heart defects and skeletal malformations, OMIM:617602