Cerebral Palsy
Gene: ASXL1EnsemblGeneIds (GRCh38): ENSG00000171456
EnsemblGeneIds (GRCh37): ENSG00000171456
OMIM: 612990, Gene2Phenotype
ASXL1 is in 12 panels
1 review
Clare van Eyk (University of Adelaide)
3 individuals with de novo loss of function variants identified in a retrospective CP cohort analysis (PMID 33528536) . One additional individual reported in PMID 30542205 with "atypical cerebral palsy".
Truncal hypotonia with spasticity of the extremities are sometimes reported in BOS (but are not characteristic of the disorder), along with multiple developmental abnormalities of varying severity.
Sources: Literature, Expert ReviewCreated: 15 Jul 2022, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bohring-Opitz syndrome (MIM 605039)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Bohring-Opitz syndrome (MIM 605039)
- 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
Clare van Eyk (University of Adelaide)gene: ASXL1 was added gene: ASXL1 was added to Cerebral Palsy. Sources: Literature,Expert Review Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASXL1 were set to 33528536; 30542205 Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome (MIM 605039) Review for gene: ASXL1 was set to GREEN