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  3. HDAC4
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: HDAC4

Red List (low evidence)
HDAC4 (histone deacetylase 4)
EnsemblGeneIds (GRCh38): ENSG00000068024
EnsemblGeneIds (GRCh37): ENSG00000068024
OMIM: 605314, Gene2Phenotype
HDAC4 is in 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A patient was described with two copy number variants: g.233110452_ 243028452 and del g.210300_ 8664358dup. The second variant was maternally inherited (PMID:33288889)
Sources: Literature
Created: 22 Jul 2023, 1:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 22 Jul 2023, 1:07 p.m.

Panel version: 4.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
Tags
cnv
OMIM
605314
Clinvar variants
Variants in HDAC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2023, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HDAC4 was added gene: HDAC4 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature cnv tags were added to gene: HDAC4. Mode of inheritance for gene: HDAC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HDAC4 were set to 33288889; 36980886 Phenotypes for gene: HDAC4 were set to craniosynostosis, MONDO:0015469 Review for gene: HDAC4 was set to RED