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  2. Intellectual disability syndromic and non-syndromic
  3. H3F3B
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Intellectual disability syndromic and non-syndromic

Gene: H3F3B

Green List (high evidence)
H3F3B (H3 histone family member 3B)
EnsemblGeneIds (GRCh38): ENSG00000132475
EnsemblGeneIds (GRCh37): ENSG00000132475
OMIM: 601058, Gene2Phenotype
H3F3B is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.
Created: 5 Dec 2020, 12:24 a.m. | Last Modified: 5 Dec 2020, 12:24 a.m.
Panel Version: 0.3240
Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.
Created: 5 Jan 2020, 3:46 a.m. | Last Modified: 5 Jan 2020, 3:46 a.m.
Panel Version: 0.1504
No evidence currently for Mendelian gene association.
Created: 20 Nov 2019, 3:01 a.m. | Last Modified: 20 Nov 2019, 3:01 a.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; regression; seizures

Publications

Created: 20 Nov 2019, 3:01 a.m.
Last Modified: 20 Nov 2019, 3:01 a.m.
Panel version: 0.3240

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability
  • regression
  • seizures
OMIM
601058
Clinvar variants
Variants in H3F3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures

5 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: H3F3B were set to

5 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: h3f3b has been classified as Green List (High Evidence).

5 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: h3f3b has been classified as Amber List (Moderate Evidence).

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: h3f3b has been classified as Red List (Low Evidence).

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: h3f3b has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: H3F3B was added gene: H3F3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: H3F3B was set to Unknown