Aortopathy_Connective Tissue Disorders

Gene: ABL1

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

• 30071989
• 28288113

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

• PMID: 30071989
• 28288113