Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 8 actions
31 Oct 2019	Likely inborn error of metabolism v1.386	SLC35A2	Catherine Snow Classified gene: SLC35A2 as Green List (high evidence)
31 Oct 2019	Likely inborn error of metabolism v1.386	SLC35A2	Catherine Snow Gene: slc35a2 has been classified as Green List (High Evidence).
31 Oct 2019	Likely inborn error of metabolism v1.386	SLC35A2	Catherine Snow Classified gene: SLC35A2 as Green List (high evidence)
31 Oct 2019	Likely inborn error of metabolism v1.386	SLC35A2	Catherine Snow Gene: slc35a2 has been classified as Green List (High Evidence).
31 Oct 2019	Likely inborn error of metabolism 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
13 Feb 2019	Likely inborn error of metabolism v1.47	SLC35A2	Ivone Leong Source NHS GMS was added to SLC35A2. Source London North GLH was added to SLC35A2.
16 Dec 2018	Likely inborn error of metabolism 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
16 Dec 2018	Likely inborn error of metabolism 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)