MECP2 - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Autism, Susceptibility to, X-Linked 3	susceptibility	mechanism: Dysregulated Neuronal Gene Expression; Function-Altering MECP2 Coding or Cis-Regulatory Variation; Reduced or Altered MeCP2 Activity animal model: Fruit fly (Drosophila melanogaster); Mouse (Mus musculus)
Severe Neonatal-Onset Encephalopathy With Microcephaly	causative de novo	mechanism: Absence of Mosaic Rescue by X-Chromosome Inactivation; Hemizygous MECP2 Loss-of-Function Variant; Impaired MeCP2 Methyl-CpG Binding and Chromocenter Clustering; Preferential De-Repression of Long Neuronal Genes; Uniform Neuronal and Glial MeCP2 Deficiency; Variant-Dependent Severity Within the Male MECP2 Spectrum animal model: Mus musculus
Chromosome Xq Duplication	untyped	mechanism: MECP2 Overexpression subtype: Xq28 (MECP2)
MECP2 Duplication Syndrome	untyped Causative
PPM-X Syndrome	untyped Causative germline	mechanism: MECP2 p.Ala140Val Methyl-CpG-Binding Domain Variant; Selective Loss of ATRX Recruitment with Preserved Methyl-CpG Binding variant: MECP2 c.419C>T p.(Ala140Val) animal model: Mus musculus
Rett Syndrome	untyped Causative de novo	mechanism: Dysregulated Neuronal Gene Expression; Loss of MeCP2 Epigenetic Regulation; MECP2 Pathogenic Variants; Variant-Dependent Clinical Severity

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Rett syndrome MONDO:0010726	XL	Definitive 2018-05-02	Rett Syndrome untyped

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.