HDAC8 Chromosome X
Histone deacetylase 8
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What This Gene Does
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Histone deacetylases, class I
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000147099
Associated Conditions (11)
Cornelia de Lange syndrome 5
Inborn genetic diseases
Intellectual disability
6 conditions
Neurodevelopmental disorder
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Cornelia de Lange syndrome 1
HDAC8-related disorder
Key Variants
RS137952838
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 5, Inborn genetic diseases, Cornelia de Lange syndrome 5
Health Risk
RS1452290404
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 5, Inborn genetic diseases, Cornelia de Lange syndrome 5
Health Risk
RS1556007534
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
Health Risk
RS1603083434
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS200093133
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 5, Inborn genetic diseases, Cornelia de Lange syndrome 5
Health Risk
RS2147618314
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
Health Risk
RS2522256171
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
Health Risk
RS398122909
Conflicting classifications of pathogenicity
Cornelia de Lange syndrome 5, Intellectual disability, Inborn genetic diseases
Health Risk
RS782377649
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cornelia de Lange syndrome 5, Inborn genetic diseases
Health Risk
RS878853048
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057516037
Likely pathogenic
Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
Health Risk
RS1057518047
Likely pathogenic
Health Risk
All Variants (84)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555993243 | Health Risk | Pathogenic | — |
| RS1556165162 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS1569316085 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 5 |
| RS1602491207 | Health Risk | Pathogenic | Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1602975601 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2051864063 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2051897517 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2147614590 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2147618568 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2148039184 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2148045934 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2148131600 | Health Risk | Pathogenic | — |
| RS2148144488 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2519784773 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2520419268 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2521210921 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2521213669 | Health Risk | Pathogenic | Inborn genetic diseases, Cornelia de Lange syndrome 5, Inborn genetic diseases |
| RS2522179484 | Health Risk | Pathogenic | — |
| RS397515415 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Inborn genetic diseases, Cornelia de Lange syndrome 5 |
| RS397515416 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS397515418 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS398122888 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, HDAC8-related disorder, Cornelia de Lange syndrome 5 |
| RS587779380 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS587783663 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS797045610 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS797045611 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS886039706 | Health Risk | Pathogenic | — |
| RS886041838 | Health Risk | Pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS886041936 | Health Risk | Pathogenic | 6 conditions, Inborn genetic diseases, Cornelia de Lange syndrome 1 |
| RS1555948969 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS1603069440 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2147618372 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS2520420090 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5 |
| RS397515417 | Health Risk | Pathogenic/Likely pathogenic | Cornelia de Lange syndrome 5, Inborn genetic diseases, Cornelia de Lange syndrome 5 |