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Genetic epilepsy syndromes

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

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

RettBASE: http://www.mecp2.chw.edu.au/ XLR neonatal severe encephalopathy, XLR mental retardation and XLD Rett syndrome. Well charecterised phenotype where seizures are a common feature.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

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,300673; Mental retardation, X-linked syndromic, Lubs type,300260; Mental retardation, X-linked, syndromic 13,300055; Rett syndrome,312750; Rett syndrome, atypical,312750; Rett syndrome, preserved speech variant,312750; {Autism susceptibility, X-linked 3},300496

Publications

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
  • 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
OMIM
300005
Clinvar variants
Variants in MECP2
Penetrance
None
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

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MECP2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MECP2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MECP2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

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

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

MECP2 was created by Sarah Leigh