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Mackenzie's Mission_Reproductive Carrier Screening

Gene: PRKRA

Green List (high 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

Sarah Righetti (University of New South Wales)

Green List (high evidence)

Sufficient reports - most common variant is c.665C>T p.Pro222Leu, rs121434410

PMID 29279192 (2017)- 7 patients in Brazilian cohort - most homozygous for P222L
PMID 2514249: (2014) - 2 Polish sibs - hom for P222L
Sources: Expert Review
Created: 29 Oct 2020, 1:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 16, MIM#612067

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 16, MIM#612067
OMIM
603424
Clinvar variants
Variants in PRKRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

29 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

29 Oct 2020, Gel status: 0

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

Sarah Righetti (University of New South Wales)

gene: PRKRA was added gene: PRKRA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKRA were set to 29279192; 25142429 Phenotypes for gene: PRKRA were set to Dystonia 16, MIM#612067 Review for gene: PRKRA was set to GREEN