Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Neonatal diabetes v2.33 AGPAT2 Ivone Leong Phenotypes for gene: AGPAT2 were changed from neonatal diabetes mellitus to neonatal diabetes mellitus, MONDO:0016391
Neonatal diabetes v2.32 AGPAT2 Ivone Leong Publications for gene: AGPAT2 were set to Poovazhagi et al., Int J Diabetes Dev Ctries (January–March 2013) 33(1):66–68, DOI 10.1007/s13410-012-0099-6
Neonatal diabetes v1.46 AGPAT2 Ivone Leong edited their review of gene: AGPAT2: Added comment: Submitted on behalf of Jayne Houghton (Royal Devon and Exeter Foundation Trust): "We have identified pathogenic variants in this gene in only two patients with neonatal diabetes from two different families. Therefore there is currently insufficient evidence for this being a neonatal diabetes gene (only 2 unrelated cases) and so this should not currently be changed to green using panelapp guidelines."; Changed rating: RED
Neonatal diabetes v1.13 AGPAT2 Jayne Houghton Deleted their review
Neonatal diabetes v1.13 AGPAT2 Jayne Houghton reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22831748; Phenotypes: Diabetes, insulin resistance, hepatomegaly, skeletal muscle hypertrophy, hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 AGPAT2 Ivone Leong reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.12 AGPAT2 Ivone Leong Source NHS GMS was added to AGPAT2.
Neonatal diabetes AGPAT2 Louise Daugherty reviewed AGPAT2
Neonatal diabetes AGPAT2 Elisa De Franco reviewed AGPAT2
Neonatal diabetes AGPAT2 Rebecca Foulger marked AGPAT2 as ready
Neonatal diabetes AGPAT2 Rebecca Foulger classified AGPAT2 as red
Neonatal diabetes AGPAT2 Rebecca Foulger edited their review of AGPAT2
Neonatal diabetes AGPAT2 Rebecca Foulger commented on AGPAT2