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  3. H3F3B
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Genetic Epilepsy

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%.
Sources: Literature
Created: 5 Dec 2020, 12:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; regression; seizures

Publications

Created: 5 Dec 2020, 12:27 a.m.

Panel version: 0.945

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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

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 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 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: H3F3B was added gene: H3F3B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: H3F3B were set to 33268356 Phenotypes for gene: H3F3B were set to Intellectual disability; regression; seizures Review for gene: H3F3B was set to GREEN