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Genetic epilepsy syndromes

Gene: MBD5

Green List (high evidence)

MBD5 (methyl-CpG binding domain protein 5)
EnsemblGeneIds (GRCh38): ENSG00000204406
EnsemblGeneIds (GRCh37): ENSG00000204406
OMIM: 611472, Gene2Phenotype
MBD5 is in 5 panels

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

CHROMOSOME 2q23.1 DELETION SYNDROME.AD mental retardation 1 (MRD1) - see febrile seizures in infancy and non-febrile seizures later. Cytogenetically assoc with del or dup of 2q23.1 - in the deletions MBD5 is the smallest region of overlap. Molecularly - Wagenstaller et al, 2007 - 200kb del in MBD5- de novo. They also idenitifed 4 missense variants in MBD5 from chilsren with mental retardation - not present in 660 controls. Talkowski - identified MBD5 deletions in approx 0.18% of patiernts with autsim from 2 large cohorts (1786 and 2275 respectively) no deletions detected in 7878 controls. Found a missense change G79E in a highly conserved methyl CpG binding domain in 747 patients with autism spectrum disorder compared to controls - suggests alterations of MBD5 aredispose a risk to Autism spectrum dosorders. Carvill et al, 2013 - de nov het truncating mutation in a lady with severe mental retardation and epileptoic encephalopathy. Kleefstra et al 2012 - patient with some Kleefstra phenotype - found to have a fs mutation in MBD5.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, 156200

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 1
OMIM
611472
Clinvar variants
Variants in MBD5
Penetrance
None
Publications
  • Wagenstaller et al (2007) Am J Hum Genet 81: 768-779
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MBD5.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MBD5.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MBD5. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

MBD5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

MBD5 was created by Sarah Leigh