Epileptic encephalopathy
Gene: PURA
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Publications for PURA were set to PMID:25342064; Lalani (2014)
Mode of inheritance for PURA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for PURA were set to Hunt et al (2014); Lalani (2014)
Phenotypes for PURA were set to Mental retardation, autosomal dominant 31; INTELLECTUAL DISABILITY
The Gel status was updated for this whole panel
PURA was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
PURA was added to Epileptic encephalopathypanel. Sources: Expert Review
PURA was created by Reviewer_03