Leukodystrophy - adult onset
Gene: ACTA2
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
Gene: acta2 has been classified as Green List (High Evidence).
Gene: acta2 has been classified as Green List (High Evidence).
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