Skeletal dysplasia
Gene: ABL1EnsemblGeneIds (GRCh38): ENSG00000097007
EnsemblGeneIds (GRCh37): ENSG00000097007
OMIM: 189980, Gene2Phenotype
ABL1 is in 7 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
13 cases from 11 families with experimentally confirmed or expected gain-of-function nonsynonymous variants and skeletal malformations as a prominent feature of the condition.Created: 15 Mar 2022, 3:55 a.m. | Last Modified: 15 Mar 2022, 3:55 a.m.
Panel Version: 0.11388
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital heart defects and skeletal malformations syndrome MIM#617602
Publications
Mode of pathogenicity
Other
Bryony Thompson (Royal Melbourne Hospital)
13 cases from 11 families with experimentally confirmed or expected gain-of-function nonsynonymous variants and skeletal malformations as a prominent feature of the condition.Created: 24 Aug 2020, 5:55 a.m. | Last Modified: 24 Aug 2020, 5:55 a.m.
Panel Version: 0.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital heart defects and skeletal malformations syndrome MIM#617602
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- NHS GMS
- Phenotypes
-
- Congenital heart defects and skeletal malformations syndrome, 617602
- OMIM
- 189980
- Clinvar variants
- Variants in ABL1
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: abl1 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: ABL1 were set to 28288113
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: abl1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ABL1 was added gene: ABL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABL1 were set to 28288113 Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602 Mode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments