Epileptic encephalopathy
Gene: SETD5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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, 12:59 p.m.
Comment on phenotypes: Source: OMIMCreated: 21 Jan 2016, 12:57 p.m.
Comment on mode of inheritance: Confirmed and not on imprinted gene list.Created: 21 Jan 2016, 12:57 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for SETD5 were set to Mental retardation, autosomal dominant 23
Mode of inheritance for SETD5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
SETD5 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
SETD5 was added to Epileptic encephalopathypanel. Sources: Expert Review
SETD5 was created by Reviewer_03