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  3. MBD5
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Intellectual_disability

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 3 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
  • Emory Genetics Laboratory
Phenotypes
  • Mental Retardation, Dominant
  • Autosomal Dominant Mental Retardation syndrome type 1
  • Mental retardation, autosomal dominant 1, 156200
  • Intellectual disability
OMIM
611472
Clinvar variants
Variants in MBD5
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MBD5 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MBD5 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MBD5 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MBD5 was added to Intellectual_disabilitypanel. Source: Emory Genetics Laboratory

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MBD5 was added to Intellectual_disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen