Regression
Gene: H3F3A

H3F3A (H3 histone family member 3A)
EnsemblGeneIds (GRCh38): ENSG00000163041
EnsemblGeneIds (GRCh37): ENSG00000163041
OMIM: 601128, Gene2Phenotype
H3F3A is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.
Created: 5 Dec 2020, 12:12 a.m. | Last Modified: 5 Dec 2020, 12:12 a.m.

Panel Version: 0.210

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, 3:48 a.m. | Last Modified: 5 Jan 2020, 3:48 a.m.

Panel Version: 0.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; regression; seizures

Publications

33268356

Created: 5 Jan 2020, 3:48 a.m.
Last Modified: 5 Jan 2020, 3:48 a.m.
Panel version: 0.210

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Intellectual disability
regression
seizures

OMIM

601128

Clinvar variants

Variants in H3F3A

Penetrance

None

Publications

33268356

Panels with this gene