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HDAC8

Synonyms
CDA07, CDLS5, HD8, HDACL1, KDAC8, MRXS6, RPD3, WTS
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
3
Likely pathogenic
0
VUS
1,068
Likely benign
477
Benign
682

Patient phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on HDAC8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
66.7%
Abnormality of the cardiovascular system
66.7%
Abnormality of the ear
66.7%
Abnormality of the musculoskeletal system
66.7%
Abnormality of the nervous system
66.7%
Growth abnormality
66.7%
Abnormality of limbs
33.3%
Abnormality of prenatal development or birth
33.3%
Abnormality of the eye
33.3%
Abnormality of the integument
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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