Epileptic encephalopathy
Gene: PURAEnsemblGeneIds (GRCh38): ENSG00000185129
EnsemblGeneIds (GRCh37): ENSG00000185129
OMIM: 600473, Gene2Phenotype
PURA is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Hunt et al (2014) Lalani (2014)
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Hunt et al (2014) Lalani (2014)
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Hunt et al (2014) Lalani (2014)
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Hunt et al (2014) Lalani (2014)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Mode of inheritance and loss-of-function mechanism confirmed.Created: 21 Jan 2016, 11:46 a.m.
Comment on mode of inheritance: Confirmed with G2P and OMIM, and not on the imprinted gene list.Created: 21 Jan 2016, 11:44 a.m.
Comment on phenotypes: Sourced from G2P and OMIM.Created: 21 Jan 2016, 11:43 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, 4:20 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mental retardation, autosomal dominant 31
- INTELLECTUAL DISABILITY
- OMIM
- 600473
- Clinvar variants
- Variants in PURA
- Penetrance
- Complete
- Publications
-
- PMID:25342064
- Lalani (2014)
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PURA were set to PMID:25342064; Lalani (2014)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PURA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PURA were set to Hunt et al (2014); Lalani (2014)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PURA were set to Mental retardation, autosomal dominant 31; INTELLECTUAL DISABILITY
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)PURA 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)PURA was added to Epileptic encephalopathypanel. Sources: Expert Review
Created
Richard Scott (North Thames GMC/UCL)PURA was created by Reviewer_03