Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 3 actions
13 Feb 2019	Likely inborn error of metabolism - targeted testing not possible v1.47	B4GALT7	Ivone Leong Source NHS GMS was added to B4GALT7. Source London North GLH was added to B4GALT7.
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	B4GALT7	Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) for gene: B4GALT7 Publications for gene B4GALT7 were changed from 27827381 to 27604308
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	B4GALT7	Ellen McDonagh gene: B4GALT7 was added gene: B4GALT7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 27827381 Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)