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  2. Fetal anomalies
  3. HDAC4
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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Keep rating as Red.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HDAC4 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for BRACHYDACTYLY-MENTAL RETARDATION SYNDROME
Created: 11 Dec 2018, 9:05 a.m.

Publications

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.311

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRACHYDACTYLY-MENTAL RETARDATION SYNDROME
OMIM
605314
Clinvar variants
Variants in HDAC4
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to HDAC4. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HDAC4 was added gene: HDAC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME