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Genetic Epilepsy v0.1941 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
Genetic Epilepsy v0.1853 U2AF2 Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)
Genetic Epilepsy v0.1853 U2AF2 Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)
Genetic Epilepsy v0.1853 U2AF2 Elena Savva Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193
Genetic Epilepsy v0.1853 U2AF2 Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder MONDO:0700092, MMGT1-related to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Publications for gene: U2AF2 were set to 34112922
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Classified gene: U2AF2 as Green List (high evidence)
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Gene: u2af2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Classified gene: U2AF2 as Green List (high evidence)
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Gene: u2af2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1851 U2AF2 Paul De Fazio edited their review of gene: U2AF2: Changed publications: 34112922, 37092751, 36747105, 37134193
Genetic Epilepsy v0.1851 U2AF2 Paul De Fazio reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34112922,37092751,36747105,37134193; Phenotypes: Neurodevelopmental disorder, U2AF2-related (MONDO:0700092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Genetic Epilepsy v0.1610 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Epilepsy; Developmental Delay; Intellectual Disability to Neurodevelopmental disorder MONDO:0700092, MMGT1-related
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Marked gene: U2AF2 as ready
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Added comment: Comment when marking as ready: Note de novo variants in this gene were found to be enriched in the DDD study, however phenotypic information on the patients not presented.
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Gene: u2af2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Marked gene: U2AF2 as ready
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Gene: u2af2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Classified gene: U2AF2 as Red List (low evidence)
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Gene: u2af2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1263 U2AF2 Krithika Murali gene: U2AF2 was added
gene: U2AF2 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: U2AF2 were set to 34112922
Phenotypes for gene: U2AF2 were set to Epilepsy; Developmental Delay; Intellectual Disability
Review for gene: U2AF2 was set to RED
Added comment: Novel gene. De novo variant identified in a child with epilepsy, global developmental delay and dysmorphism (Hiraide et al, J Hum Genetics 2021)
Sources: Expert list, Literature