Cytopenias and congenital anaemias
Gene: ABL1EnsemblGeneIds (GRCh38): ENSG00000097007
EnsemblGeneIds (GRCh37): ENSG00000097007
OMIM: 189980, Gene2Phenotype
ABL1 is in 10 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene is somatic only on the COSMIC Cancer Gene Census list, and not germline.Created: 22 Feb 2017, 4:28 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Chronic Myeloid Leukemia (CML)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Chronic Myeloid Leukemia (CML)
- Tags
- OMIM
- 189980
- Clinvar variants
- Variants in ABL1
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Thoracic aortic aneurysm or dissection (GMS)
- Paediatric disorders - additional genes
- Familial non syndromic congenital heart disease
- Limb disorders
- DDG2P
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)ABL1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)ABL1 was created by LouiseD