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DDG2P

Gene: HDAC8

Green List (high evidence)

HDAC8 (histone deacetylase 8)
EnsemblGeneIds (GRCh38): ENSG00000147099
EnsemblGeneIds (GRCh37): ENSG00000147099
OMIM: 300269, Gene2Phenotype
HDAC8 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P updated 09/01/2019. Ratings remain as confirmed for both 'CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR' and 'Cornelia de Lange Syndrome HDAC8 X-linked dominant'. MOP listed as 'loss of function' for both phenotypes.
Created: 14 Jan 2019, 1:50 p.m.
Comment on phenotypes: Updated phenotypes to reflect DDG2P update from 09/01/2019: 'WILSON-TURNER SYNDROME 309585' phenotype was removed. This phenotype was previously rated 'confirmed' with an 'uncertain' MOP.
Created: 14 Jan 2019, 1:46 p.m.
Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: loss of function, uncertain. Multiple MOIs in DD-G2P download: hemizygous and x-linked dominant.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR
  • Cornelia de Lange Syndrome HDAC8 X-linked dominant
OMIM
300269
Clinvar variants
Variants in HDAC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

14 Jan 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: HDAC8 were changed from WILSON-TURNER SYNDROME 309585; CORNELIA DE LANGE-LIKE SYNDROME to CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR; Cornelia de Lange Syndrome HDAC8 X-linked dominant

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes WILSON-TURNER SYNDROME 309585 for gene: HDAC8

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CORNELIA DE LANGE-LIKE SYNDROME for gene: HDAC8

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HDAC8 was added gene: HDAC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HDAC8 were set to 22885700 Phenotypes for gene: HDAC8 were set to CORNELIA DE LANGE-LIKE SYNDROME