Limb disordersGene: UBA2
Comment on list classification: Promoting this gene from red to amber as there are 2 cases with variants in this gene and ectrodactyly reported. Also currently on the Skeletal dysplasia panel as amber.
Created: 20 Jan 2021, 6:01 p.m. | Last Modified: 20 Jan 2021, 6:01 p.m.
Panel Version: 2.31
Two reports of SNV in UBA2 in patients with split-hand/foot malformation. There are also reports of microdeletions including the UBA2 gene in 2 patients with split-hand/foot malformation/ectrodactyly
PMID: 31332306 - Yamoto et al 2019 - report one Japanese patient (38-II-1) with split-hand/foot malformation and a de novo c.1324dupT p.(Tyr442Leufs17) variant in UBA2 was found by exome sequencing. Not found in gnomAD. The UBA2 gene was considered a candidate gene because deletion of the region containing this gene (19q13.11) was found in a SHFM patient in this study using aCGH (patient 26-II-3) and in two other studies where microdeletions encompassing the UBA2 gene (among many other genes) were found in singular patients with ectrodactyly; PMID: 24243649 Chowdhury et al 2013 and PMID: 29988626 Abe et al 2019.
PMID: 31587267 - mother and son with aplasia cutis congenita. The son also has bilateral ectrodactyly, a horseshoe kidney, low‐lying conus medullaris and tracheo‐oesophageal fistula. WES identified a heterozygous deletion at c.327delT of UBA2, which leads to a frameshift and early top codon, in both the son and his mother.
Created: 20 Jan 2021, 5:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
split hand-foot malformation MONDO:0016576; aplasia cutis congenita (disease) MONDO:0007145; ectrodactyly
Gene: uba2 has been classified as Amber List (Moderate Evidence).
gene: UBA2 was added gene: UBA2 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBA2 were set to 31332306; 24243649; 29988626; 31587267 Phenotypes for gene: UBA2 were set to split hand-foot malformation MONDO:0016576; aplasia cutis congenita (disease) MONDO:0007145; ectrodactyly Review for gene: UBA2 was set to AMBER