22 Aug 2019
Undiagnosed metabolic disorders v1.251
PRPS1
Sarah Leigh Classified gene: PRPS1 as Green List (high evidence)
22 Aug 2019
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.
22 Aug 2019
Undiagnosed metabolic disorders v1.251
PRPS1
Sarah Leigh Gene: prps1 has been classified as Green List (High Evidence).
22 Aug 2019
Undiagnosed metabolic disorders v1.250
PRPS1
Sarah Leigh Added comment: Comment on phenotypes: Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism)
22 Aug 2019
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
22 Aug 2019
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
20 Aug 2019
Undiagnosed metabolic disorders v1.246
PRPS1
Sarah Leigh Deleted their comment
20 Aug 2019
Undiagnosed metabolic disorders v1.246
PRPS1
Sarah Leigh Deleted their comment
20 Aug 2019
Undiagnosed metabolic disorders v1.246
PRPS1
Sarah Leigh Deleted their comment
20 Aug 2019
Undiagnosed metabolic disorders v1.246
PRPS1
Sarah Leigh Deleted their comment
20 Aug 2019
Undiagnosed metabolic disorders v1.246
PRPS1
Sarah Leigh Deleted their comment
20 Aug 2019
Undiagnosed metabolic disorders v1.246
PRPS1
Sarah Leigh Deleted their comment
20 Aug 2019
Undiagnosed metabolic disorders v1.246
PRPS1
Sarah Leigh Deleted their comment
06 Jan 2017
Undiagnosed metabolic disorders
PRPS1
Sarah Leigh edited their review of PRPS1
06 Jan 2017
Undiagnosed metabolic disorders
PRPS1
Sarah Leigh edited their review of PRPS1
06 Jan 2017
Undiagnosed metabolic disorders
PRPS1
Sarah Leigh edited their review of PRPS1
06 Jan 2017
Undiagnosed metabolic disorders
PRPS1
Sarah Leigh edited their review of PRPS1
06 Jan 2017
Undiagnosed metabolic disorders
PRPS1
Sarah Leigh edited their review of PRPS1
06 Jan 2017
Undiagnosed metabolic disorders
PRPS1
Sarah Leigh edited their review of PRPS1
06 Jan 2017
Undiagnosed metabolic disorders
PRPS1
Sarah Leigh edited their review of PRPS1
06 Jan 2017
Undiagnosed metabolic disorders
PRPS1
Sarah Leigh reviewed PRPS1