Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported.
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported.
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
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
Sarah Leigh Added comment: Comment on phenotypes: Glycerol kinase deficiency (Disorders of glycerol metabolism);Intellectual disability;Intellectual_disability
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