Familial non syndromic congenital heart disease
Gene: ABL1EnsemblGeneIds (GRCh38): ENSG00000097007
EnsemblGeneIds (GRCh37): ENSG00000097007
OMIM: 189980, Gene2Phenotype
ABL1 is in 10 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)
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
- 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
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- Cytopenias and congenital anaemias
- Limb disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Paediatric disorders - additional genes
- Familial non syndromic congenital heart disease
- DDG2P
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
History Filter Activity
Added Tag
Rebecca Foulger (Genomics England curator)Tag missense tag was added to gene: ABL1.
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: abl1 has been classified as Green List (High Evidence).
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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
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
Added New Source
Sarah Leigh (Genomics England Curator)ABL1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)ABL1 was created by sleigh