Aortopathy_Connective Tissue 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 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Aortic root dilation described in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity.
Created: 25 Jun 2020, 6:14 a.m. | Last Modified: 25 Jun 2020, 6:14 a.m.
Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects and skeletal malformations syndrome (MIM# 617602)

Publications

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 30071989; not listed as a gene for Heritable Thoracic Aortic Aneurysm and Dissection by Clingen

PMID: 28288113: six affected individuals from 4 unrelated families who shared similar clinical features including dysmorphic facial features (6/6), congenital heart disease (CHD, 6/6), skeletal abnormalities (6/6), joint problems (5/6), failure to thrive (5/6), gastrointestinal problems (5/6), and male genital/sexual abnormalities (3/4). Missense variants with 3 families sharing the same variant (Tyr245Cys).
Authors also noted similar congenital malformations observed in fetuses exposed to the selective tyrosine kinase inhibitor imatinib, and patients with constitutional ABL1 variants
Created: 25 Jun 2020, 1:06 a.m. | Last Modified: 25 Jun 2020, 1:06 a.m.
Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects and skeletal malformations syndrome (MIM# 617602)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome (MIM# 617602)
OMIM
189980
Clinvar variants
Variants in ABL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abl1 has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABL1 were changed from to Congenital heart defects and skeletal malformations syndrome (MIM# 617602)

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABL1 were set to

25 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABL1 was added gene: ABL1 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABL1 was set to Unknown