Leukodystrophy - adult onset
Gene: ACTA2EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Hyperintense periventricular white matter lesions were present in 95% (21/22) of smooth muscle dysfunction syndrome cases with missense variants involving Arg179. Age of diagnosis varied from infancy to adulthood.
Sources: LiteratureCreated: 8 Jun 2023, 4:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
multisystemic smooth muscle dysfunction syndrome MONDO:0013452
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- multisystemic smooth muscle dysfunction syndrome MONDO:0013452
- OMIM
- 102620
- Clinvar variants
- Variants in ACTA2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Stroke
- Leukodystrophy - adult onset
- Incidentalome_PREGEN_DRAFT
- Gastrointestinal neuromuscular disease
- BabyScreen+ newborn screening
- Vasculitis
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Incidentalome
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Additional findings_Adult
- Aortopathy_Connective Tissue Disorders
- Cerebral vascular malformations
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acta2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acta2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: ACTA2 was added gene: ACTA2 was added to Leukodystrophy - adult onset. Sources: Literature Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTA2 were set to 29300374 Phenotypes for gene: ACTA2 were set to multisystemic smooth muscle dysfunction syndrome MONDO:0013452 Mode of pathogenicity for gene: ACTA2 was set to Other Review for gene: ACTA2 was set to GREEN gene: ACTA2 was marked as current diagnostic