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Dystonia - isolated/combined

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional individual with isolated dystonia, early-onset, reported. Compound het variants including one LoF and one missense.
Created: 3 Aug 2023, 2:17 a.m. | Last Modified: 3 Aug 2023, 2:17 a.m.
Panel Version: 1.32
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 would have isolated dystonia.
Sources: Literature
Created: 4 Oct 2021, 4:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 35, childhood-onset , MIM# 619921

Publications

Created: 4 Oct 2021, 4:17 a.m.

Panel version: 1.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 35, childhood-onset , MIM# 619921
OMIM
613663
Clinvar variants
Variants in SHQ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SHQ1 were set to 34542157

3 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shq1 has been classified as Green List (High Evidence).

24 Jun 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHQ1 were changed from Dystonia to Dystonia 35, childhood-onset , MIM# 619921

4 Oct 2021, 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).

4 Oct 2021, 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).

4 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHQ1 was added gene: SHQ1 was added to Dystonia - isolated/combined. Sources: Literature Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHQ1 were set to 34542157 Phenotypes for gene: SHQ1 were set to Dystonia Review for gene: SHQ1 was set to AMBER