Regression
Gene: H3F3B
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, 12:22 a.m. | Last Modified: 5 Dec 2020, 12:22 a.m.
Panel Version: 0.214
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, 3:50 a.m. | Last Modified: 5 Jan 2020, 3:50 a.m.
Panel Version: 0.52
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
Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures
Publications for gene: H3F3B were set to
Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: h3f3b has been classified as Green List (High Evidence).
Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Gene: h3f3b has been classified as Red List (Low Evidence).
Gene: h3f3b has been classified as Red List (Low Evidence).
gene: H3F3B was added gene: H3F3B was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: H3F3B was set to Unknown