Cataract
Gene: UBE2UEnsemblGeneIds (GRCh38): ENSG00000177414
EnsemblGeneIds (GRCh37): ENSG00000177414
UBE2U is in 3 panels
1 review
Ee Ming Wong (Victorian Clinical Genetics Services)
- one missense UBE2U variant identified in one family with five affected individuals (includes proband)
- in silico analyses predicts the UBE2U variant to be damaging
- no functional
- another STUM missense variant identified in the same family predicted to be benign
- additional clinical assessment indicated that the family shared some systemic dysmorphisms and learning disabilities similar to RIDDLE syndrome
Sources: LiteratureCreated: 6 Sep 2021, 5:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinoschisis; cataracts; learning disabilities; developmental delay
Publications
- PMID: 33776059
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Retinoschisis
- cataracts
- learning disabilities
- developmental delay
- Clinvar variants
- Variants in UBE2U
- Penetrance
- Complete
- Publications
-
- PMID: 33776059
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ube2u has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ube2u has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ee Ming Wong (Victorian Clinical Genetics Services)gene: UBE2U was added gene: UBE2U was added to Cataract. Sources: Literature Mode of inheritance for gene: UBE2U was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBE2U were set to PMID: 33776059 Phenotypes for gene: UBE2U were set to Retinoschisis; cataracts; learning disabilities; developmental delay Penetrance for gene: UBE2U were set to Complete Review for gene: UBE2U was set to RED gene: UBE2U was marked as current diagnostic