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Likely inborn error of metabolism v1.382 SLC6A8 Catherine Snow changed review comment from: 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.

Comment on list classification: Promoted from Amber to Green. SLC6A8 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.; to: 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.
Promoted from Amber to Green. SLC6A8 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Likely inborn error of metabolism v1.382 SLC6A8 Catherine Snow Classified gene: SLC6A8 as Green List (high evidence)
Likely inborn error of metabolism v1.382 SLC6A8 Catherine Snow Gene: slc6a8 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.381 SLC6A8 Catherine Snow reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21660517; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism v1.47 SLC6A8 Ivone Leong Source NHS GMS was added to SLC6A8.
Source London North GLH was added to SLC6A8.
Likely inborn error of metabolism v0.4 SLC6A8 Ellen McDonagh gene: SLC6A8 was added
gene: SLC6A8 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 27604308
Phenotypes for gene: SLC6A8 were set to Intellectual disability; Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)