Familial non syndromic congenital heart disease

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 11 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Added 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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome, 617602
Tags
missense
OMIM
189980
Clinvar variants
Variants in ABL1
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

6 Dec 2018, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag missense tag was added to gene: ABL1.

6 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

6 Dec 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

4 May 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 May 2017, Gel status: 0

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

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

4 May 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ABL1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature

4 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ABL1 was created by sleigh