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Undiagnosed metabolic disorders v1.251 PRPS1 Sarah Leigh Classified gene: PRPS1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.251 PRPS1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Arts syndrome 301835, Charcot-Marie-Tooth disease, X-linked recessive, 5 311070, Deafness, X-linked 1 304500 and Phosphoribosylpyrophosphate synthetase superactivity 300661. At least 22 variants have been reported across the phenotypes.
Undiagnosed metabolic disorders v1.251 PRPS1 Sarah Leigh Gene: prps1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.250 PRPS1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism)
Undiagnosed metabolic disorders v1.250 PRPS1 Sarah Leigh Phenotypes for gene: PRPS1 were changed from Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism); Charcot-Marie-Tooth disease; Congenital hearing impairment (profound/severe); Intellectual disability; Intellectual_disability to 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
Undiagnosed metabolic disorders v1.249 PRPS1 Sarah Leigh Mode of inheritance for gene: PRPS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh reviewed PRPS1