UPB1

beta-ureidopropionase 1
OMIM: 606673, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Red UPB1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism) Beta-ureidopropionase deficiency 613161
Green UPB1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	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
Amber UPB1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Beta-ureidopropionase deficiency, 613161 (can include mental retardation, developmental delay)