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  2. Bilateral congenital or childhood onset cataracts
  3. UBE2U
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Bilateral congenital or childhood onset cataracts

Gene: UBE2U

Red List (low evidence)
UBE2U (ubiquitin conjugating enzyme E2 U (putative))
EnsemblGeneIds (GRCh38): ENSG00000177414
EnsemblGeneIds (GRCh37): ENSG00000177414
UBE2U is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a disease in Gene2Phenotype (there is currently no entry for this gene in OMIM). As there is currently only 1 case this gene has been given a Red rating.
Created: 6 Oct 2021, 3:30 p.m. | Last Modified: 6 Oct 2021, 3:30 p.m.
Panel Version: 3.1331
Created: 6 Oct 2021, 3:30 p.m.
Last Modified: 6 Oct 2021, 3:30 p.m.
Copied from panel: Intellectual disability v3.1331

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family with 5 individuals reported.
Sources: Literature
Created: 13 Sep 2021, 8:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinoschisis; cataracts; learning disabilities; developmental delay

Publications

Created: 13 Sep 2021, 8:04 a.m.

Copied from panel: Intellectual disability v3.1331

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Retinoschisis, MONDO:0004579
  • cataracts
  • learning disability, MONDO:0004681
  • developmental delay
Clinvar variants
Variants in UBE2U
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: UBE2U was added gene: UBE2U was added to Cataracts. Sources: Expert Review Red,Literature Mode of inheritance for gene: UBE2U was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBE2U were set to 33776059 Phenotypes for gene: UBE2U were set to Retinoschisis, MONDO:0004579; cataracts; learning disability, MONDO:0004681; developmental delay