Dystonia - complex
Gene: SHQ1
Two more individuals with dystonia reported.Created: 3 Aug 2023, 2:21 a.m. | Last Modified: 3 Aug 2023, 2:21 a.m.
Panel Version: 0.229
Three unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration. Rated Amber as phenotypes likely represent a continuum but currently unclear what proportion will have complex dystonia.
Sources: LiteratureCreated: 4 Oct 2021, 4:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia 35, childhood-onset , MIM# 619921; Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
Publications
Publications for gene: SHQ1 were set to 34542157; 29178645
Gene: shq1 has been classified as Green List (High Evidence).
Phenotypes for gene: SHQ1 were changed from Dystonia; Neurodegeneration to Dystonia 35, childhood-onset , MIM# 619921; Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
Gene: shq1 has been classified as Amber List (Moderate Evidence).
Gene: shq1 has been classified as Amber List (Moderate Evidence).
gene: SHQ1 was added gene: SHQ1 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHQ1 were set to 34542157; 29178645 Phenotypes for gene: SHQ1 were set to Dystonia; Neurodegeneration Review for gene: SHQ1 was set to AMBER