Epileptic encephalopathy
Gene: MBD5EnsemblGeneIds (GRCh38): ENSG00000204406
EnsemblGeneIds (GRCh37): ENSG00000204406
OMIM: 611472, Gene2Phenotype
MBD5 is in 3 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 1
Publications
- Wagenstaller et al (2007) Am J Hum Genet 81: 768-779
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
Phenotypes
Mental retardation, autosomal dominant 1
Publications
- Wagenstaller et al (2007) Am J Hum Genet 81: 768-779
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
Phenotypes
Mental retardation, autosomal dominant 1
Publications
- Wagenstaller et al (2007) Am J Hum Genet 81: 768-779
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
Phenotypes
Mental retardation, autosomal dominant 1
Publications
- Wagenstaller et al (2007) Am J Hum Genet 81: 768-779
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Mental retardation, autosomal dominant 1
- OMIM
- 611472
- Clinvar variants
- Variants in MBD5
- Penetrance
- Complete
- Publications
-
- Wagenstaller et al (2007) Am J Hum Genet 81: 768-779
- 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 Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MBD5 were set to Mental retardation, autosomal dominant 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MBD5 were set to Wagenstaller et al (2007) Am J Hum Genet 81: 768-779
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MBD5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)MBD5 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)MBD5 was added to Epileptic encephalopathypanel. Sources: UKGTN