Cerebral Palsy
Gene: ASXL3EnsemblGeneIds (GRCh38): ENSG00000141431
EnsemblGeneIds (GRCh37): ENSG00000141431
OMIM: 615115, Gene2Phenotype
ASXL3 is in 8 panels
2 reviews
Clare van Eyk (University of Adelaide)
3 individuals reported with cerebral palsy and P/LP variants in ASXL3 in a large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort (PMID:33528536).
1 additional individual with mono-allelic LOF (frameshift insertion) reported in large-scale exome sequencing study (PMID: 38693247).
Additional case study with de novo pathogenic nonsense variant and dystonic cerebral palsy (PMID: 35863334)Created: 27 May 2024, 3:48 a.m. | Last Modified: 27 May 2024, 3:48 a.m.
Panel Version: 1.193
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bainbridge-Ropers syndrome, MIM#615485
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Severe neurodevelopmental disorder but no strong overlap with CP.
Sources: Expert ReviewCreated: 18 Sep 2021, 2:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bainbridge-Ropers syndrome, MIM# 615485
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Bainbridge-Ropers syndrome, MIM# 615485
- OMIM
- 615115
- Clinvar variants
- Variants in ASXL3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ASXL3 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: asxl3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: asxl3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ASXL3 was added gene: ASXL3 was added to Cerebral Palsy. Sources: Expert Review Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ASXL3 were set to Bainbridge-Ropers syndrome, MIM# 615485 Review for gene: ASXL3 was set to RED