Childhood onset dystonia, chorea or related movement disorder
Gene: SHQ1
The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 4 May 2024, 6:04 p.m. | Last Modified: 4 May 2024, 6:19 p.m.
Panel Version: 4.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 4 Jan 2024, 4:55 p.m. | Last Modified: 4 Jan 2024, 4:55 p.m.
Panel Version: 3.61
SHQ1 variants are associated with Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 and Dystonia 35, childhood-onset, OMIM:619921, but not with a phenotype in Gen2Phen. At least 10 SHQ1 variants have been reported (PMIDs: 29178645 34542157; 36810590; 36847845) in eight unrelated cases. The phenotypic features were dystonia (7/7 cases examined), hypotonia (6/7 cases examined), intellectual disability (7/8 cases examined), and seizures (in 4/6 cases and 2 further unrelated cases where remaining affected siblings did not have seizures (1/2 and 3/4)(PMID: 36847845).Created: 4 Jan 2024, 4:53 p.m. | Last Modified: 4 Jan 2024, 4:53 p.m.
Panel Version: 3.60
SHQ1 variants are associated with Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 and Dystonia 35, childhood-onset, OMIM:619921, but not with a phenotype in Gen2Phen. At least 10 SHQ1 variants have been reported (PMID).Created: 4 Jan 2024, 4:41 p.m. | Last Modified: 4 Jan 2024, 4:41 p.m.
Panel Version: 3.60
Three unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration.
Functional data in PMID 34542157
Rated Amber as phenotypes likely represent a continuum but currently unclear.
Sources: LiteratureCreated: 11 Oct 2021, 7:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia; Neurodegeneration
Publications
Tag Q4_23_promote_green was removed from gene: SHQ1.
Source Expert Review Green was added to SHQ1. Source NHS GMS was added to SHQ1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: shq1 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: SHQ1.
Publications for gene: SHQ1 were set to 34542157; 29178645; 36810590; 36847845; 36416405; 37475611
Publications for gene: SHQ1 were set to 34542157; 29178645
Phenotypes for gene: SHQ1 were changed from Dystonia; Neurodegeneration to ?Dystonia 35, childhood-onset, OMIM:619921; dystonia 35, childhood-onset, MONDO:0030958; Neurodevelopmental disorder with dystonia and seizures, OMIM:619922; neurodevelopmental disorder with dystonia and seizures, MONDO:0859258
Gene: shq1 has been classified as Amber List (Moderate Evidence).
gene: SHQ1 was added gene: SHQ1 was added to Childhood onset dystonia or chorea or related movement disorder. 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