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Paroxysmal Dyskinesia

Gene: SHQ1

Amber List (moderate evidence)
SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000144736
EnsemblGeneIds (GRCh37): ENSG00000144736
OMIM: 613663, Gene2Phenotype
SHQ1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Four unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration; now Family 4: paroxysmal dyskinesia and hypotonia.

All likely represent a spectrum but caution warranted.
Created: 9 Mar 2023, 7:45 a.m. | Last Modified: 9 Mar 2023, 7:45 a.m.
Panel Version: 0.106

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with dystonia and seizures, MIM# 619922

Publications

Created: 9 Mar 2023, 7:43 a.m.
Last Modified: 9 Mar 2023, 7:43 a.m.
Panel version: 0.107

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature: PMID: 36847845
Created: 6 Mar 2023, 2:01 a.m. | Last Modified: 6 Mar 2023, 2:02 a.m.
Panel Version: 0.106

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PAROXYSMAL DYSTONIA; INTELLECTUAL DISABILITY; HYPOTONIA; CHOREOATHETOSIS; EPILEPSY

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Mar 2023, 2:01 a.m.
Last Modified: 6 Mar 2023, 2:02 a.m.
Panel version: 0.106

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
OMIM
613663
Clinvar variants
Variants in SHQ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shq1 has been classified as Amber List (Moderate Evidence).

9 Mar 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHQ1 were changed from PAROXYSMAL DYSTONIA; INTELLECTUAL DISABILITY; HYPOTONIA; CHOREOATHETOSIS; EPILEPSY to Neurodevelopmental disorder with dystonia and seizures, MIM# 619922

9 Mar 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SHQ1 were set to

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shq1 has been classified as Amber List (Moderate Evidence).

6 Mar 2023, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: SHQ1 was added gene: SHQ1 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SHQ1 were set to PAROXYSMAL DYSTONIA; INTELLECTUAL DISABILITY; HYPOTONIA; CHOREOATHETOSIS; EPILEPSY Review for gene: SHQ1 was set to GREEN gene: SHQ1 was marked as current diagnostic