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  3. SHQ1
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Early onset or syndromic epilepsy

Gene: SHQ1

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

3 reviews

Eleanor Williams (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: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:24 p.m.
Panel Version: 5.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 2 May 2024, 1:13 p.m.
Last Modified: 6 May 2024, 9:24 p.m.
Panel version: 5.6

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.
Copied from panel: Childhood onset dystonia, chorea or related movement disorder v3.61

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.

Copied from panel: Childhood onset dystonia, chorea or related movement disorder v3.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
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

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: SHQ1.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to SHQ1. Source Expert Review Green was added to SHQ1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Jan 2024, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: SHQ1 was added gene: SHQ1 was added to Early onset or syndromic epilepsy. Sources: Literature,Expert Review Amber Q4_23_promote_green tags were added to gene: SHQ1. Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHQ1 were set to 34542157; 29178645; 36810590; 36847845; 36416405; 37475611; 36189577 Phenotypes for gene: SHQ1 were set 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