Callosome
Gene: ASXL3
ASXL3 (additional sex combs like 3, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000141431
EnsemblGeneIds (GRCh37): ENSG00000141431
OMIM: 615115, Gene2Phenotype
ASXL3 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000141431
EnsemblGeneIds (GRCh37): ENSG00000141431
OMIM: 615115, Gene2Phenotype
ASXL3 is in 8 panels
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Bainbridge-Ropers syndrome (OMIM # 615485)
- OMIM
- 615115
- Clinvar variants
- Variants in ASXL3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: asxl3 has been classified as Green List (High Evidence).
7 Jan 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
7 Jan 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ASXL3 were set to
7 Jan 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ASXL3 was added gene: ASXL3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASXL3 was set to Unknown