Likely inborn error of metabolism

Gene: UPB1

Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443).

Created: 4 Dec 2019, 4:38 p.m. | Last Modified: 4 Dec 2019, 4:38 p.m.

Panel Version: 1.422

Comment on list classification: Based on new review by metabolic disease specialist on behalf of the GMS metabolic specialist tets group, and additional publications, this gene has been promoted from Red to Green.

Created: 4 Dec 2019, 4:23 p.m. | Last Modified: 4 Dec 2019, 4:23 p.m.

Panel Version: 1.417

Green List (high evidence)

Considerably more patients have now been identified with variants in this gene and the associated biochemical abnormalities. Whilst there are indeed clinically asymptomatic patients, this is not unusual in some inherited metabolic disorders where a spectrum of severity can exist despite clear biochemical abnormality. Most likely the patients being investigated by this panel will be clinically symptomatic and therefore if mutations are found in this gene the likelihood is they will be relevant (especially if biochemical testing concurs)

Created: 21 Dec 2018, 3:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 24526388
• 25638458
• 22525402

Red List (low evidence)

A number of patients (6) reported with variants however, the phenotype associated does not seem consistent, is widely variable and includes normal subjects therefore I would not include on this level of evidence

Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Beta-ureidopropionase deficiency 613161

Publications

• 27604308