Callosome
Gene: U2AF2EnsemblGeneIds (GRCh38): ENSG00000063244
EnsemblGeneIds (GRCh37): ENSG00000063244
OMIM: 191318, Gene2Phenotype
U2AF2 is in 5 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
4 patients with de novo missense variants reported, of which 2 had hypoplastic corpus callosum (PMID: 34112922, 36747105).
Sources: LiteratureCreated: 1 Jun 2023, 1:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
- OMIM
- 191318
- Clinvar variants
- Variants in U2AF2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: u2af2 has been removed from the panel.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: U2AF2 was added gene: U2AF2 was added to Callosome. Sources: Literature Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193 Phenotypes for gene: U2AF2 were set to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) Review for gene: U2AF2 was set to AMBER gene: U2AF2 was marked as current diagnostic