Childhood onset dystonia, chorea or related movement disorder
Gene: SHQ1

SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000144736
EnsemblGeneIds (GRCh37): ENSG00000144736
OMIM: 613663, Gene2Phenotype
SHQ1 is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

Created: 4 May 2024, 6:04 p.m.
Last Modified: 4 May 2024, 6:19 p.m.
Panel version: 4.3

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 4 Jan 2024, 4:41 p.m.
Last Modified: 4 Jan 2024, 4:41 p.m.
Panel version: 3.60

Zornitza Stark (Australian Genomics)

I don't know

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: Literature
Created: 11 Oct 2021, 7:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia; Neurodegeneration

Publications

Created: 11 Oct 2021, 7:15 a.m.

Panel version: 1.157

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

?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

OMIM

613663

Clinvar variants

Variants in SHQ1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: SHQ1.

4 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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)

4 Jan 2024, Gel status: 2