Cancer Predisposition_Paediatric
Gene: ASXL1EnsemblGeneIds (GRCh38): ENSG00000171456
EnsemblGeneIds (GRCh37): ENSG00000171456
OMIM: 612990, Gene2Phenotype
ASXL1 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Case reports suggest that individuals with BOS are at greater risk for Wilms tumour than the general population.
Recommended surveillance: Renal ultrasound every three months from birth to age eight to screen for the development of Wilms tumour.
Sources: Expert ReviewCreated: 13 May 2021, 10:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bohring-Opitz syndrome , MIM#605039; Wilms tumour
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Bohring-Opitz syndrome , MIM#605039
- Wilms tumour
- OMIM
- 612990
- Clinvar variants
- Variants in ASXL1
- 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: asxl1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: asxl1 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: ASXL1 was added gene: ASXL1 was added to Cancer Predisposition_Paediatric. Sources: Expert Review Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASXL1 were set to 29446906 Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome , MIM#605039; Wilms tumour Review for gene: ASXL1 was set to GREEN