Limb disorders
Gene: UBE3BEnsemblGeneIds (GRCh38): ENSG00000151148
EnsemblGeneIds (GRCh37): ENSG00000151148
OMIM: 608047, Gene2Phenotype
UBE3B is in 5 panels
1 review
Ellen McDonagh (Genomics England Curator)
This syndrome can include Clinodactyly of 5th fingers. In PMID: 23200864 2 of 4 patients with biallelic variants in this gene had Clinodactyly of 5th fingers. The two with Clinodactyly of 5th finger were brother and sister. The other 2 affected patients were unrelated. Could this features therefore be due to another genetic variant in the related pair?Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kaufman oculocerebrofacial syndrome 244450
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Kaufman oculocerebrofacial syndrome 244450
- Polydactyly
- OMIM
- 608047
- Clinvar variants
- Variants in UBE3B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: This syndrome can include Clin
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to UBE3B. Mode of inheritance for gene UBE3B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Kaufman oculocerebrofacial syndrome 244450 for gene: UBE3B Publications for gene UBE3B were changed from to 23200864 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Added New Source
Ellen McDonagh (Genomics England Curator)UBE3B was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)UBE3B was created by Ellen McDonagh