Limb disordersGene: UBE3B
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
Kaufman oculocerebrofacial syndrome 244450
Ellen McDonagh: This syndrome can include Clin
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)
UBE3B was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
UBE3B was created by Ellen McDonagh