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  3. PRKRA
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Regression

Gene: PRKRA

Red List (low evidence)
PRKRA (protein activator of interferon induced protein kinase EIF2AK2)
EnsemblGeneIds (GRCh38): ENSG00000180228
EnsemblGeneIds (GRCh37): ENSG00000180228
OMIM: 603424, Gene2Phenotype
PRKRA is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Neurodevelopmental regression is not part of the phenotype.
Created: 29 Apr 2021, 8:13 a.m. | Last Modified: 29 Apr 2021, 8:13 a.m.
Panel Version: 0.313

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 16, MIM# 612067; MONDO:0012789

Created: 29 Apr 2021, 8:13 a.m.
Last Modified: 29 Apr 2021, 8:13 a.m.
Panel version: 0.313

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia 16, MIM# 612067
  • MONDO:0012789
OMIM
603424
Clinvar variants
Variants in PRKRA
Penetrance
None
Panels with this gene

History Filter Activity

29 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkra has been classified as Red List (Low Evidence).

29 Apr 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM# 612067; MONDO:0012789

29 Apr 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkra has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKRA was added gene: PRKRA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRKRA was set to Unknown