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Regression v0.214 H3F3A Zornitza Stark Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures
Regression v0.213 H3F3A Zornitza Stark Publications for gene: H3F3A were set to
Regression v0.212 H3F3A Zornitza Stark Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.211 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Regression v0.211 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Regression v0.210 H3F3A Zornitza Stark edited their review of gene: H3F3A: Added comment: 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%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.52 H3F3B Zornitza Stark commented on gene: H3F3B: 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.
Regression v0.52 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Regression v0.52 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Regression v0.52 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Regression v0.52 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Regression v0.51 H3F3A Zornitza Stark commented on gene: H3F3A
Regression v0.0 H3F3A Zornitza Stark 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