This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: HDAC6
HDAC6 (histone deacetylase 6)
EnsemblGeneIds (GRCh38): ENSG00000094631
EnsemblGeneIds (GRCh37): ENSG00000094631
OMIM: 300272, Gene2Phenotype
HDAC6 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000094631
EnsemblGeneIds (GRCh37): ENSG00000094631
OMIM: 300272, Gene2Phenotype
HDAC6 is in 5 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Provisional association of HDAC6 to ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (MIM:300863) in OMIM based on one family reported in Chassaing et al. (2005) (PMID:16001442) with apparent X-linked dominant chondrodysplasia (300863) and phenotypes including ID. Simon et al. (2010) (PMID: 20181727) identified a variant in HDAC6 in this family that completely segregated with the disorder. Functional experiments showed that the mutation abrogated the posttranscriptional regulation normally exerted by miR433. Bonnet et al 2006 (PMID:16900295). Male with de-novo 5Mb duplication encompassing HDAC6 - mild mental retardation. Kim et al 2016 (PMID:27545680) found that LoF mutations in SON affect splicing of transcripts of genes associated with brain development including HDAC6. No other cases of ID associated with HDAC6 variants found in Gene2Phenotype or PubMed. Rated as red as not sufficient numbers of ID cases associated with HDAC6.Created: 7 Mar 2018, 11:25 a.m.
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863
- OMIM
- 300272
- Clinvar variants
- Variants in HDAC6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Mar 2018, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for HDAC6 were set to 16001442; 20181727; 16900295; 27545680
7 Mar 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for HDAC6 were set to ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863
7 Mar 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HDAC6 was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)HDAC6 was created by Ellen McDonagh