Epileptic encephalopathy
Gene: MBD5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Possible DD gene, however all 4 reviewers agree this should be on the green list and report variants within this gene as part of current diagnostic practice.Created: 20 Jan 2016, 4:30 p.m.
Comment on mode of inheritance: Monoallelic confirmed on both G2P and OMIM. Not on the imprinted gene list.Created: 20 Jan 2016, 4:29 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for MBD5 were set to Mental retardation, autosomal dominant 1
Publications for MBD5 were set to Wagenstaller et al (2007) Am J Hum Genet 81: 768-779
Mode of inheritance for MBD5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
MBD5 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
MBD5 was added to Epileptic encephalopathypanel. Sources: UKGTN