ABL1

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber ABL1 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes congential heart disease, skeletal abnormalities and failure to thrive clinodactyly syndactyly arachnodactyly
Red ABL1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	Unknown	Sources Expert Review Red BRIDGE consortium (NIHRBR-RD) Phenotypes Chronic Myeloid Leukemia (CML) Tags somatic
Green ABL1 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.90	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Congenital heart defects and skeletal malformations syndrome, 617602 Tags missense
Green ABL1 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH Literature 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)
Green ABL1 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert Review Green Literature Phenotypes Congenital heart defects and skeletal malformations syndrome, 617602 Congenital finger flexion contractures (HP:0005879) Congenital septal defect (HP:0004760) Generalized joint laxity (HP:0002761) Ascending aortic dilation (HP:0004970) Scoliosis (HP:0002650) Failure to thrive in infancy (HP:0001531) Hypospadias (HP:0000047) Pectus excavatum (HP:0000767) Tags missense
Amber ABL1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Literature Phenotypes Congenital heart defects and skeletal malformations syndrome, 617602 Tags missense
Amber ABL1 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Congenital heart defects and skeletal malformations syndrome, OMIM:617602 Tags missense
Green ABL1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Congenital heart defects and skeletal malformations, OMIM:617602 Congenital heart defects and skeletal malformations syndrome, MONDO:0060532
Green ABL1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Congenital heart defects and skeletal malformations 617602
Green ABL1 in Paediatric disorders - additional genes Level 2: Developmental disorders Version 7.31 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Congenital heart defects and skeletal malformations syndrome 617602 Tags missense