PRPS1

phosphoribosyl pyrophosphate synthetase 1
OMIM: 311850, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green PRPS1 in Mendeliome Version 2.0	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes PRPS1 deficiency disorder MONDO:0100061 Phosphoribosylpyrophosphate synthetase superactivity MIM#300661
Green PRPS1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PRPS1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes PRPS1 deficiency disorder MONDO:0100061
Green PRPS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Phenotypes PRPS1 deficiency disorder MONDO:0100061
Amber PRPS1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Expert Review Amber Expert Review Amber Literature Phenotypes Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy
Green PRPS1 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes Charcot Marie Tooth disease, X linked recessive, 5, 311070 HMSN
Green PRPS1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services
Green PRPS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Arts syndrome, 301835 (3)
Red PRPS1 in Additional findings_Paediatric Level 2: Screening Version 1.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene Phenotypes Arts syndrome Charcot-Marie-Tooth disease
Green PRPS1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Arts syndrome 301835 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 Deafness, X-linked 1 304500 Gout, PRPS-related 300661 Phosphoribosylpyrophosphate synthetase superactivity 300661
Amber PRPS1 in Fetal anomalies Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Phenotypes Arts syndrome MIM#301835
Green PRPS1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Mackenzie's Mission Phenotypes PRPS1 deficiency disorder MONDO:0100061 Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395
Red PRPS1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease Arts syndrome
Green PRPS1 in Prepair 500+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes PRPS1 deficiency disorder MONDO:0100061 Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395
Green PRPS1 in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 1.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes PRPS1 deficiency disorder MONDO:0100061 Disorders of purine metabolism