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Inborn errors of metabolism

Gene: UPB1

Green List (high evidence)

UPB1 (beta-ureidopropionase 1)
EnsemblGeneIds (GRCh38): ENSG00000100024
EnsemblGeneIds (GRCh37): ENSG00000100024
OMIM: 606673, Gene2Phenotype
UPB1 is in 3 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

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

Saikat Santra (Birmingham Children's Hospital)

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

Helen Brittain (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism)
  • Beta-ureidopropionase deficiency 613161
OMIM
606673
Clinvar variants
Variants in UPB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: upb1 has been classified as Green List (High Evidence).

4 Dec 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: UPB1 were set to 27604308; 24526388; 25638458; 22525402

4 Dec 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: UPB1 were set to 27604308

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to UPB1. Source London North GLH was added to UPB1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: UPB1 was added gene: UPB1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UPB1 were set to 27604308 Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism); Beta-ureidopropionase deficiency 613161