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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 5 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia,300863
OMIM
300272
Clinvar variants
Variants in HDAC6
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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