Fetal anomalies
Gene: UBE3B

UBE3B (ubiquitin protein ligase E3B)
EnsemblGeneIds (GRCh38): ENSG00000151148
EnsemblGeneIds (GRCh37): ENSG00000151148
OMIM: 608047, Gene2Phenotype
UBE3B is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.

DDG2P rating in original PAGE list: Confirmed for BLEPHAROPHIMOSIS-MENTAL RETARDATION
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.161

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

BLEPHAROPHIMOSIS-MENTAL RETARDATION

OMIM

608047

Clinvar variants

Variants in UBE3B

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: UBE3B was added gene: UBE3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION

Fetal anomalies Gene: UBE3B