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Likely inborn error of metabolism - targeted testing not possible v1.386 SLC35A2 Catherine Snow Classified gene: SLC35A2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.386 SLC35A2 Catherine Snow Gene: slc35a2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.386 SLC35A2 Catherine Snow Classified gene: SLC35A2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.386 SLC35A2 Catherine Snow Gene: slc35a2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.385 SLC35A2 Catherine Snow reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30746764; Phenotypes: Congenital disorder of glycosylation, type IIm, 300896; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC35A2 Ivone Leong Source NHS GMS was added to SLC35A2.
Source London North GLH was added to SLC35A2.
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35A2 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIm 300896 for gene: SLC35A2
Publications for gene SLC35A2 were changed from 27604308 to 27743886; 25778940; 23561849
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35A2 Ellen McDonagh gene: SLC35A2 was added
gene: SLC35A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC35A2 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: SLC35A2 were set to 27604308
Phenotypes for gene: SLC35A2 were set to Intellectual disability; SLC35A2-CDG (other congenital disorders of glycosylation)