MBD5:Ensemblv90

methyl-CpG binding domain protein 5
OMIM: 611472, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green MBD5 in Angelman Rett like syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 1, MIM# 156200
  • MONDO:0007974
Tags
  • SV/CNV

Green MBD5 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.233

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 1, MIM# 156200
  • MONDO:0007974
Tags
  • SV/CNV

Red MBD5 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 1, MIM#156200

Green MBD5 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 1, MIM# 156200
  • MONDO:0007974
Tags
  • SV/CNV

Green MBD5 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Mental retardation, autosomal dominant 1, MIM# 156200
    • MONDO:0007974
    Tags
    • SV/CNV

    Green MBD5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mental retardation, autosomal dominant 1, MIM# 156200
    • MONDO:0007974
    Tags
    • SV/CNV

    Green MBD5 in Angelman Rett like syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal dominant 1, MIM# 156200
    • MONDO:0007974
    Tags
    • SV/CNV

    Green MBD5 in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal dominant 1, MIM# 156200
    • MONDO:0007974
    Tags
    • SV/CNV

    Red MBD5 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 1, MIM#156200

    Green MBD5 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal dominant 1, MIM# 156200
    • MONDO:0007974
    Tags
    • SV/CNV

    Green MBD5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal dominant 1, MIM# 156200
    • MONDO:0007974
    Tags
    • SV/CNV