Pneumothorax - familial
Gene: ABL1
ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000097007
EnsemblGeneIds (GRCh37): ENSG00000097007
OMIM: 189980, Gene2Phenotype
ABL1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000097007
EnsemblGeneIds (GRCh37): ENSG00000097007
OMIM: 189980, Gene2Phenotype
ABL1 is in 11 panels
1 review
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
This gene is green on R125 FTAA panel, and several papers have pneumothorax as a presenting feature of CHDSKM (see PMIDs above). Our lab has also had a case with a pathogenic variant and pneumothorax as the primary presenting feature. Appropriate therefore for gene to be represnted on this panel.
Sources: NHS GMSCreated: 1 Sep 2026, 10:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
- CHDSKM
- OMIM
- 189980
- Clinvar variants
- Variants in ABL1
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic aortic aneurysm or dissection (GMS)
- Skeletal dysplasia
- Familial non syndromic congenital heart disease
- Limb disorders
- Cytopenias and congenital anaemias
- Thoracic aortic aneurysm or dissection
- Pneumothorax - familial
- DDG2P
- Fetal anomalies
- Paediatric disorders - additional genes
History Filter Activity
1 Sep 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)gene: ABL1 was added gene: ABL1 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABL1 were set to PMID: 32643838; PMID: 41416177; PMID: 23826103; PMID: 33223528 Phenotypes for gene: ABL1 were set to CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM Penetrance for gene: ABL1 were set to unknown Review for gene: ABL1 was set to GREEN