Regression
Gene: H3F3A
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
Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures
Publications for gene: H3F3A were set to
Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: h3f3a has been classified as Green List (High Evidence).
Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Gene: h3f3a has been classified as Amber List (Moderate Evidence).
gene: H3F3A was added gene: H3F3A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: H3F3A was set to Unknown