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Intellectual disability

Gene: HDAC6

Red List (low evidence)

HDAC6 (histone deacetylase 6)
EnsemblGeneIds (GRCh38): ENSG00000094631
EnsemblGeneIds (GRCh37): ENSG00000094631
OMIM: 300272, Gene2Phenotype
HDAC6 is in 4 panels

3 reviews

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.

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Red
  • 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
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene HDAC6 was set to ['16001442', '20181727', '16900295', '27545680']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HDAC6 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HDAC6 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen