Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Epileptic encephalopathy

Gene: MECP2

Green List (high evidence)

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

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

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)

21 Jan 2016, Gel status: 4

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;

21 Jan 2016, Gel status: 4

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

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

MECP2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MECP2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MECP2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MECP2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert