Likely inborn error of metabolism - targeted testing not possible
Gene: GKComment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported.Created: 13 Aug 2019, 4:18 p.m. | Last Modified: 13 Aug 2019, 4:18 p.m.
Panel Version: 1.135
Comment on mode of inheritance: This moi has been changed to be in with OMIM and Gen2Phen.Created: 13 Aug 2019, 4:10 p.m. | Last Modified: 13 Aug 2019, 4:10 p.m.
Panel Version: 1.134
Comment on phenotypes: Glycerol kinase deficiency (Disorders of glycerol metabolism);Intellectual disability;Intellectual_disabilityCreated: 13 Aug 2019, 4:03 p.m. | Last Modified: 13 Aug 2019, 4:03 p.m.
Panel Version: 1.132
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
Publications for gene: GK were set to 27604308
Gene: gk has been classified as Green List (High Evidence).
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
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
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
Phenotypes for gene: GK were changed from Glycerol kinase deficiency (Disorders of glycerol metabolism); Intellectual disability; Intellectual_disability to Glycerol kinase deficiency 307030
Source NHS GMS was added to GK. Source London North GLH was added to GK.
Sarah Leigh: Associated with relevant pheno
gene: GK was added gene: GK was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GK were set to 27604308 Phenotypes for gene: GK were set to Glycerol kinase deficiency (Disorders of glycerol metabolism); Intellectual disability; Intellectual_disability