Callosome
Gene: UBE3B

UBE3B (ubiquitin protein ligase E3B)
EnsemblGeneIds (GRCh38): ENSG00000151148
EnsemblGeneIds (GRCh37): ENSG00000151148
OMIM: 608047, Gene2Phenotype
UBE3B is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kaufman oculocerebrofacial syndrome, MIM# 244450

Created: 1 Feb 2021, 7:50 a.m.
Last Modified: 1 Feb 2021, 7:50 a.m.
Panel version: 0.248

Tiong Tan (Victorian Clinical Genetics Services)

Comment on list classification: Reviewed
Created: 1 Feb 2021, 4:30 a.m. | Last Modified: 1 Feb 2021, 4:30 a.m.

Panel Version: 0.248

7 patients with UBE3B syndrome and callosal anomalies - hypoplasia and agenesis
Sources: Literature
Created: 1 Feb 2021, 4:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Blepharophimosis; intellectual disability

Publications

32949109

Created: 1 Feb 2021, 4:28 a.m.

Panel version: 0.246

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Kaufman oculocerebrofacial syndrome, MIM# 244450
Blepharophimosis
intellectual disability

OMIM

608047

Clinvar variants

Variants in UBE3B

Penetrance

Complete

Publications

32949109

Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBE3B were changed from Blepharophimosis; intellectual disability to Kaufman oculocerebrofacial syndrome, MIM# 244450; Blepharophimosis; intellectual disability

1 Feb 2021, Gel status: 3