Paediatric disorders - additional genes

Gene: ABL1

Green List (high evidence)

Comment on list classification: Green on 100K criteria - pending higher level sign off for GMS indication

Created: 7 Aug 2019, 9:27 a.m. | Last Modified: 7 Aug 2019, 9:27 a.m.

Panel Version: 0.24

"4 unrelated families who exhibited dysmorphic facial features, congenital heart disease, skeletal abnormalities, joint problems, failure to thrive, gastrointestinal problems, and male genital anomalies. In younger children, dysmorphic features included broad forehead, small nose, deep-set eyes, and small chin, whereas in older patients, the face appeared elongated, with a narrow maxilla, long and narrow nose, and pointed chin. Common skeletal abnormalities included pectus excavatum, scoliosis, finger contractures, and hindfoot deformity. Congenital heart defects included atrial and ventricular septal defects, and in older patients, aortic root dilation."

Sufficient cases for a green rating. Note that two missense variants have been reported to date - unclear on mode of pathogenicity.
Sources: Literature

Created: 7 Aug 2019, 9:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital heart defects and skeletal malformations syndrome 617602

Publications

• 28288113

Mode of pathogenicity
Other