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Undiagnosed metabolic disorders

Gene: UPB1

Red List (low evidence)

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

2 reviews

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 Red
  • Literature
Phenotypes
  • Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism)
  • Beta-ureidopropionase deficiency 613161
OMIM
606673
Clinvar variants
Variants in UPB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

UPB1 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red Model of inheritance for gene UPB1 was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

UPB1 was created by sleigh

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

UPB1 was added to Undiagnosed metabolic disorderspanel. Sources: Literature