Clefting
Gene: UBE3B

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

PMID:23687348 - One of two patients reported with biallelic variants in UBE3B in this study and one of four patients reported in PMID:23200864 and reviewed here had submucous cleft palate.

DECIPHER database - One of three patients with homozygous sequence variants in UBE3B had median cleft palate.
Sources: Literature
Created: 25 Jun 2023, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kaufman oculocerebrofacial syndrome, OMIM:244450

Publications

Created: 25 Jun 2023, noon

Panel version: 4.77

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

Kaufman oculocerebrofacial syndrome, OMIM:244450

OMIM

608047

Clinvar variants

Variants in UBE3B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: ube3b has been classified as Amber List (Moderate Evidence).

25 Jun 2023, Gel status: 1

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