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BabyScreen+ newborn screening

Gene: HDAC8

Red List (low evidence)
HDAC8 (histone deacetylase 8)
EnsemblGeneIds (GRCh38): ENSG00000147099
EnsemblGeneIds (GRCh37): ENSG00000147099
OMIM: 300269, Gene2Phenotype
HDAC8 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association.

Congenital onset, multi-system disorder.

No specific treatment.
Created: 7 Dec 2022, 2:07 a.m. | Last Modified: 7 Dec 2022, 2:07 a.m.
Panel Version: 0.1199

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Cornelia de Lange syndrome 5, MIM# 300882

Created: 7 Dec 2022, 2:07 a.m.
Last Modified: 7 Dec 2022, 2:07 a.m.
Panel version: 0.1199

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
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Cornelia de Lange syndrome 5, MIM# 300882
OMIM
300269
Clinvar variants
Variants in HDAC8
Penetrance
None
Panels with this gene

History Filter Activity

7 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hdac8 has been classified as Red List (Low Evidence).

7 Dec 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HDAC8 were changed from Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle to Cornelia de Lange syndrome 5, MIM# 300882

7 Dec 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HDAC8 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

7 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hdac8 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HDAC8 was added gene: HDAC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle