Congenital diaphragmatic hernia
Gene: ABL1EnsemblGeneIds (GRCh38): ENSG00000097007
EnsemblGeneIds (GRCh37): ENSG00000097007
OMIM: 189980, Gene2Phenotype
ABL1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Congenital diaphragmatic hernia reported in at least 3 individuals.
Sources: LiteratureCreated: 21 Jun 2021, 8:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital heart defects and skeletal malformations syndrome, MIM# 617602
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Congenital heart defects and skeletal malformations syndrome, MIM# 617602
- OMIM
- 189980
- Clinvar variants
- Variants in ABL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abl1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abl1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ABL1 was added gene: ABL1 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABL1 were set to 33461977; 28288113 Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, MIM# 617602 Review for gene: ABL1 was set to GREEN