ABL1

Amber ABL1 in Limb disorders

Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 1.118

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 1.80

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)

Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

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 1.127

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• Literature

Phenotypes

• Congenital heart defects and skeletal malformations syndrome, OMIM:617602

Tags

• missense

Green ABL1 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

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 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• Congenital heart defects and skeletal malformations 617602

Green ABL1 in Paediatric disorders - additional genes

Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• Congenital heart defects and skeletal malformations syndrome 617602

Tags

• missense

Green ABL1 in Severe Paediatric Disorders

Version 1.184

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