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Limb disorders

Gene: UBE3B

Amber List (moderate evidence)

UBE3B (ubiquitin protein ligase E3B)
EnsemblGeneIds (GRCh38): ENSG00000151148
EnsemblGeneIds (GRCh37): ENSG00000151148
OMIM: 608047, Gene2Phenotype
UBE3B is in 4 panels

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

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

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: This syndrome can include Clin

7 Nov 2018, Gel status: 2

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)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UBE3B was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

UBE3B was created by Ellen McDonagh