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	ATP6V0A2	Ivone Leong Source NHS GMS was added to ATP6V0A2. Source London North GLH was added to ATP6V0A2.
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	ATP6V0A2	Ellen McDonagh Added phenotypes V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250 for gene: ATP6V0A2 Publications for gene ATP6V0A2 were changed from 20301755 to 27604308
16 Dec 2018	Likely inborn error of metabolism - targeted testing not possible v0.4	ATP6V0A2	Ellen McDonagh gene: ATP6V0A2 was added gene: ATP6V0A2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V0A2 were set to 20301755 Phenotypes for gene: ATP6V0A2 were set to V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250