Epilepsy Plus
Gene: MECP2

MECP2 (methyl-CpG binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000169057
EnsemblGeneIds (GRCh37): ENSG00000169057
OMIM: 300005, Gene2Phenotype
MECP2 is in 5 panels

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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

Expert
Radboud University Medical Center, Nijmegen
UKGTN
Expert Review Green

Phenotypes

Encephalopathy, neonatal severe
Angelman syndrome
Mental retardation, X-linked syndromic, Lubs type
Mental retardation, X-linked, syndromic 13
Rett syndrome

OMIM

300005

Clinvar variants

Variants in MECP2

Penetrance

Complete

Publications

Wan et al (1999) Am J Hum Genet 5: 1520_1529
Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
Ramocki et al (2009) Am J Med Genet Part A 152A: 1079_1088
Couvert et al (2001) Hum Mol Genet 10(9): 941-946

Panels with this gene

History Filter Activity

8 Sep 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MECP2 was added to Epilepsy Pluspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert,Expert Review Green

8 Sep 2016, Gel status: 0

Created