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Mendeliome v0.5545 H3F3B Zornitza Stark Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures
Mendeliome v0.5544 H3F3B Zornitza Stark Publications for gene: H3F3B were set to
Mendeliome v0.5543 H3F3B Zornitza Stark Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5542 H3F3B Zornitza Stark Classified gene: H3F3B as Green List (high evidence)
Mendeliome v0.5542 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Mendeliome v0.5541 H3F3B Zornitza Stark edited their review of gene: H3F3B: Added comment: 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%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.653 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Mendeliome v0.653 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.652 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.
Mendeliome v0.27 H3F3B Zornitza Stark Marked gene: H3F3B as ready
Mendeliome v0.27 H3F3B Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence).
Mendeliome v0.27 H3F3B Zornitza Stark Classified gene: H3F3B as Red List (low evidence)
Mendeliome v0.27 H3F3B Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence).
Mendeliome v0.0 H3F3B Zornitza Stark gene: H3F3B was added
gene: H3F3B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: H3F3B was set to Unknown