Deleterious HDAC2 Gene Mutation

MedGen UID:: 1659136
•Concept ID:: C4744504
•: Cell or Molecular Dysfunction

Synonyms:

Deleterious HD2 Gene Mutation; Deleterious Histone Deacetylase 2 Gene Mutation; Deleterious RPD3 Gene Mutation; Deleterious YAF1 Gene Mutation

Definition

A change in the nucleotide sequence of the HDAC2 gene that is associated with increased risk of disease. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDeleterious HDAC2 Gene Mutation

Molecular Abnormality
- Molecular Sequence Variation
  - Molecular Genetic Variation
    - Mutation Abnormality
      - Deleterious Mutation
        Deleterious HDAC2 Gene Mutation

Recent clinical studies

Prognosis

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N
Genome Med 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. PMID: 35468861 Free PMC Article

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Clinical prediction guides

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

See all (1)

MedGen

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Deleterious HDAC2 Gene Mutation

Definition

Term Hierarchy

Recent clinical studies

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

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