Aortopathy_Connective Tissue Disorders
Gene: ABL1
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
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 variantsCreated: 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
Gene: abl1 has been classified as Green List (High Evidence).
Phenotypes for gene: ABL1 were changed from to Congenital heart defects and skeletal malformations syndrome (MIM# 617602)
Publications for gene: ABL1 were set to
Mode of inheritance for gene: ABL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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