Epileptic encephalopathy
Gene: QARSEnsemblGeneIds (GRCh38): ENSG00000172053
EnsemblGeneIds (GRCh37): ENSG00000172053
OMIM: 603727, Gene2Phenotype
QARS is in 9 panels
6 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1Created: 6 Sep 2019, 2:04 p.m. | Last Modified: 6 Sep 2019, 2:04 p.m.
Panel Version: 1.153
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Zang et al (2014) AJHG 94, 547_558
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Zang et al (2014) AJHG 94, 547_558
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Zang et al (2014) AJHG 94, 547_558
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Zang et al (2014) AJHG 94, 547 558
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Probable DD gene and all 4 reviewers agree this should be green. Mode of inheritance confirmed. Mutation consequence from G2P = all missense/in frame.Created: 21 Jan 2016, 11:48 a.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).Created: 12 Nov 2015, 4:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
- Tags
- OMIM
- 603727
- Clinvar variants
- Variants in QARS
- Penetrance
- Complete
- Publications
-
- Zang et al (2014) AJHG 94, 547 558
- Panels with this gene
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: QARS.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)QARS was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Richard Scott (North Thames GMC/UCL)QARS was added to Epileptic encephalopathypanel. Sources: Expert Review
Created
Richard Scott (North Thames GMC/UCL)QARS was created by Reviewer_03