Familial non syndromic congenital heart disease
Gene: ABL1Added missense tag based on PMID:28288113.Created: 6 Dec 2018, 9:06 p.m.
Comment on list classification: Updated rating from Amber to Green based on advice from Helen Brittain. Wang et al. 2017 (PMID:28288113) report ABL1 germline variants (2 variants, 4 families) cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. ABL1 is on this heart panel based on ventral/atrial septal defects (VSD/ASD) seen in individuals from all four families in PMID:28288113.Created: 6 Dec 2018, 9:05 p.m. | Last Modified: 25 Jun 2019, 3:38 p.m.
Panel Version: 1.46
Two germline variants identified (one in three families and the other in a single family).Created: 4 May 2017, 1:54 p.m.
Comment on mode of pathogenicity: Over expression of variant constructs in HEK 293T cells and observed increased tyrosine phosphorylation, suggests increased ABL1 kinase activities associated with both the p.Tyr245Cys and p.Ala356Thr substitutions, therefore gain of function activity (PMID 28288113)Created: 4 May 2017, 1:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
Publications
Tag missense tag was added to gene: ABL1.
Gene: abl1 has been classified as Green List (High Evidence).
Phenotypes for gene: ABL1 were changed from Autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations syndrome, 617602
This gene has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for ABL1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
ABL1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature
ABL1 was created by sleigh