Early-onset Parkinson disease
Gene: MECP2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Parkinsonism has been described as a prominent feature of MECP2-related disorders, both in males and females.
Created: 22 Sep 2020, 11:22 p.m. | Last Modified: 22 Sep 2020, 11:22 p.m.

Panel Version: 0.66

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
MECP2-related disorders; Rett syndrome, MIM# 312750; Mental retardation, X-linked, syndromic 13, MIM# 300055

Publications

Created: 22 Sep 2020, 11:22 p.m.
Last Modified: 22 Sep 2020, 11:22 p.m.
Panel version: 0.66

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

MECP2-related disorders
Rett syndrome, MIM# 312750
Mental retardation, X-linked, syndromic 13, MIM# 300055

OMIM

300005

Clinvar variants

Variants in MECP2

Penetrance

None

Publications

Panels with this gene