UMPS

uridine monophosphate synthetase
OMIM: 613891, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green UMPS in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Orotic aciduria, MIM# 258900
Green UMPS in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Orotic aciduria - 258900 Epilepsy
Green UMPS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Orotic aciduria MIM# 258900
Green UMPS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orotic aciduria, 258900 (3)
Green UMPS in Red cell disorders Level 2: Haematological disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Orotic aciduria MIM# 258900 megaloblastic anaemia orotic acid crystalluria ID immunodeficiencies
Green UMPS in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Orotic aciduria, MIM# 258900
Green UMPS in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Orotic aciduria MIM# 258900
Green UMPS in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orotic aciduria, 258900 (3)
Green UMPS in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Orotic aciduria MIM#258900 Tags treatable metabolic
Green UMPS in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 0.1 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Orotic aciduria, MIM# 258900