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Undiagnosed metabolic disorders v1.147 GK Sarah Leigh Classified gene: GK as Green List (high evidence)
Undiagnosed metabolic disorders v1.147 GK Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported.
Undiagnosed metabolic disorders v1.147 GK Sarah Leigh Gene: gk has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.146 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.146 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.146 GK Sarah Leigh Publications for gene: GK were set to 27604308
Undiagnosed metabolic disorders v1.145 GK Sarah Leigh Classified gene: GK as Green List (high evidence)
Undiagnosed metabolic disorders v1.145 GK Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported.
Undiagnosed metabolic disorders v1.145 GK Sarah Leigh Gene: gk has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.144 GK Sarah Leigh Added comment: Comment on mode of inheritance: This moi has been changed to be in with OMIM and Gen2Phen.
Undiagnosed metabolic disorders v1.144 GK Sarah Leigh Mode of inheritance for gene: GK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Undiagnosed metabolic disorders v1.143 GK Sarah Leigh Mode of inheritance for gene: GK 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 v1.142 GK Sarah Leigh Added comment: Comment on phenotypes: Glycerol kinase deficiency (Disorders of glycerol metabolism);Intellectual disability;Intellectual_disability
Undiagnosed metabolic disorders v1.142 GK Sarah Leigh Phenotypes for gene: GK were changed from Glycerol kinase deficiency (Disorders of glycerol metabolism); Intellectual disability; Intellectual_disability to Glycerol kinase deficiency 307030
Undiagnosed metabolic disorders v1.141 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.141 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.141 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders PGK1 Sarah Leigh marked PGK1 as ready
Undiagnosed metabolic disorders PGK1 Sarah Leigh classified PGK1 as green
Undiagnosed metabolic disorders PGK1 Arianna Tucci reviewed PGK1
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders PGK1 Sarah Leigh reviewed PGK1
Undiagnosed metabolic disorders GK Sarah Leigh edited their review of GK
Undiagnosed metabolic disorders GK Sarah Leigh edited their review of GK
Undiagnosed metabolic disorders GK Sarah Leigh edited their review of GK
Undiagnosed metabolic disorders GK Sarah Leigh reviewed GK