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Intellectual disability syndromic and non-syndromic

Gene: MECP2

Green List (high evidence)

MECP2 (methyl-CpG binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000169057
EnsemblGeneIds (GRCh37): ENSG00000169057
OMIM: 300005, Gene2Phenotype
MECP2 is in 15 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

This gene is known to be predominantly associated with X-linked dominant disease. However, X-linked recessive disease has also been reported. In addition, both random and skewed inactivation have been seen in females (OMIM), the latter usually present a milder phenotype or no symptoms (PMID: 20301670).
Created: 12 Feb 2020, 3:44 a.m. | Last Modified: 12 Feb 2020, 3:44 a.m.
Panel Version: 0.2132

Mode of inheritance
Other

Phenotypes
Encephalopathy, neonatal severe 300673 XLR; Mental retardation, X-linked syndromic, Lubs type 300260 XLR; Mental retardation, X-linked, syndromic 13 300055 XLR; Rett syndrome 312750 XLD; Rett syndrome, atypical 312750 XLD; Rett syndrome, preserved speech variant 312750 XLD; {Autism susceptibility, X-linked 3} 300496 XL

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Encephalopathy, neonatal severe 300673 XLR
  • Mental retardation, X-linked, syndromic 13 300055 XLR
  • Rett syndrome 312750 XLD
OMIM
300005
Clinvar variants
Variants in MECP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mecp2 has been classified as Green List (High Evidence).

12 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MECP2 were changed from to Encephalopathy, neonatal severe 300673 XLR; Mental retardation, X-linked, syndromic 13 300055 XLR; Rett syndrome 312750 XLD

12 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MECP2 were set to

12 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MECP2 was changed from Unknown to Other

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MECP2 was added gene: MECP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MECP2 was set to Unknown