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Severe Paediatric Disorders

Gene: MECP2

Green List (high evidence)

MECP2 (methyl-CpG binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000169057
EnsemblGeneIds (GRCh37): ENSG00000169057
OMIM: 300005, Gene2Phenotype
MECP2 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MECP2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Encephalopathy, neonatal severe, 300673 (3) | Mental retardation, X-linked syndromic, Lubs type, 300260 (3) | Mental retardation, X-linked, syndromic 13, 300055 (3) | Rett syndrome, 312750 (3) | Rett syndrome, atypical, 312750 (3) | Rett syndrome, preserved speech variant, 312750 (3); Mode of inheritance: X-linked recessive | X-linked recessive | X-linked recessive | X-linked dominant | X-linked dominant | X-linked dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
300005
Clinvar variants
Variants in MECP2
Penetrance
None
Publications
Panels with this gene

History