Epileptic encephalopathy
Gene: MECP2EnsemblGeneIds (GRCh38): ENSG00000169057
EnsemblGeneIds (GRCh37): ENSG00000169057
OMIM: 300005, Gene2Phenotype
MECP2 is in 5 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Encephalopathy, neonatal severe; Angelman syndrome; Mental retardation, X-linked syndromic, Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome
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
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Encephalopathy, neonatal severe; Angelman syndrome; Mental retardation, X-linked syndromic, Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome
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
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Encephalopathy, neonatal severe; Angelman syndrome; Mental retardation, X-linked syndromic, Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome
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
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Encephalopathy, neonatal severe; Angelman syndrome; Mental retardation, X-linked syndromic, Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome
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
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Overlap between X-linked dominant and X-linked recessive with different relevant phenotypes that it is important to consider monoallelic mutations.Created: 29 Jan 2016, 5:01 p.m.
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 Review Green
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MECP2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MECP2 were set to Encephalopathy, neonatal severe; Angelman syndrome; Mental retardation, X-linked syndromic, Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome;
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MECP2 were set to 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
gel status update
GEL ()The Gel status was updated for this whole panel
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)MECP2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)MECP2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)MECP2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)MECP2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert