MECP2

methyl-CpG binding protein 2
OMIM: 300005, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber MECP2 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Amber
  • SFARI

No list MECP2 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2 (2 Mar 2020)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
Phenotypes
  • Rett syndrome, MIM# 312750
  • Encephalopathy, neonatal severe 300673

Red MECP2 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS
  • MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13
  • MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE
  • CHROMOSOME XQ28 DUPLICATION SYNDROME
  • RETT SYNDROME (RTT)[

Green MECP2 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260
    • MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055
    • CHROMOSOME XQ28 DUPLICATION SYNDROME 300815
    • ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673
    • RETT SYNDROME (RTT)[ 312750

    Green MECP2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.558
    Latest signed off version: v2.2 (13 Feb 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert
    • Expert Review Green
    Phenotypes
    • Encephalopathy, neonatal severe
    • Angelman syndrome
    • Mental retardation, X-linked syndromic, Lubs type
    • Mental retardation, X-linked, syndromic 13
    • Rett syndrome

    Green MECP2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Rett syndrome, 312750Mental retardation, X-linked, syndromic 13, 300055Rett syndrome, preserved speech variant, 312750Encephalopathy, neonatal severe, 300673{Autism susceptibility, X-linked 3}, 300496Angelman syndrome, 105830Mental retardation, X-linked syndromic, Lubs type, 300260
    • RETT SYNDROME (RTT)[

    Green MECP2 in Severe Paediatric Disorders


    Version 1.127

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rett syndrome, 312750
    • Mental retardation, X-linked syndromic, Lubs type, 300260
    • Rett syndrome, atypical, 312750
    • Rett syndrome, preserved speech variant, 312750
    • Encephalopathy, neonatal severe, 300673
    • Mental retardation, X-linked, syndromic 13, 300055