Activity

Filter

Cancel
Date Panel Item Activity
20 actions
Severe insulin resistance and lipodystrophy syndromes v4.52 AKT2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: AKT2.
Tag Q3_23_NHS_review was removed from gene: AKT2.
Severe insulin resistance and lipodystrophy syndromes v4.52 AKT2 Achchuthan Shanmugasundram edited their review of gene: AKT2: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Comment from GMS: 'Should be amber. Another family is needed for AKT2 for this to be upgraded to Green. The two variants used as evidence, p.Arg467Trp and p.Arg208Lys, far too common in gnomAD to be causing a rare AD disorder.'; Changed rating: AMBER
Severe insulin resistance and lipodystrophy syndromes v4.9 AKT2 Achchuthan Shanmugasundram Classified gene: AKT2 as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.9 AKT2 Achchuthan Shanmugasundram Added comment: Comment on list classification: Two unrelated cases and supporting functional evidence from mouse models suggest that this gene can be promoted to green rating in the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.9 AKT2 Achchuthan Shanmugasundram Gene: akt2 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.8 AKT2 Achchuthan Shanmugasundram Publications for gene: AKT2 were set to 15166380; 17327441
Severe insulin resistance and lipodystrophy syndromes v4.7 AKT2 Achchuthan Shanmugasundram Mode of inheritance for gene: AKT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe insulin resistance and lipodystrophy syndromes v4.6 AKT2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AKT2.
Tag Q3_23_NHS_review tag was added to gene: AKT2.
Severe insulin resistance and lipodystrophy syndromes v4.6 AKT2 Achchuthan Shanmugasundram edited their review of gene: AKT2: Added comment: PMID:15166380 - A missense variant (p.Arg274His) in AKT2 gene was identified in a family with autosomal dominant severe insulin resistance, diabetes mellitus and partial lipodystrophy.

PMID:17327441 - Of 94 probands with severe insulin resistance (35 of which had partial lipodystrophy) that were screened for AKT2 variants, one female identified with p.Arg467Trp variant was reported with type 2 diabetes and partial lipodystrophy, while another female identified with p.Arg208Lys variant had severe insulin resistance and acanthosis nigricans. p.Arg467Trp was present in neither 47 ethnically matched control subjects nor in 2 unaffected sons of the carrier. p.Arg208Lys variant was not present in her affected son but was present in 1 of 47 white control subjects.

PMID:12843127 - Functional studies in mice showed that loss of AKT2 results in severe diabetes, age-dependent lipoatrophy and mild growth deficiency.; Changed rating: GREEN; Changed publications to: 12843127, 15166380, 17327441, 27710244
Severe insulin resistance and lipodystrophy syndromes v4.3 AKT2 Achchuthan Shanmugasundram reviewed gene: AKT2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe insulin resistance, familial partial lipodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe insulin resistance and lipodystrophy syndromes v2.9 AKT2 Arina Puzriakova Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900; Partial lipodystrophy to Diabetes mellitus, type II, OMIM:125853; Type 2 diabetes mellitus, MONDO:0005148; Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; Partial lipodystrophy
Severe insulin resistance and lipodystrophy syndromes v0.17 AKT2 Ivone Leong Marked gene: AKT2 as ready
Severe insulin resistance and lipodystrophy syndromes v0.17 AKT2 Ivone Leong Gene: akt2 has been classified as Red List (Low Evidence).
Severe insulin resistance and lipodystrophy syndromes v0.14 AKT2 Ivone Leong Marked gene: AKT2 as ready
Severe insulin resistance and lipodystrophy syndromes v0.14 AKT2 Ivone Leong Added comment: Comment when marking as ready: AKT2 was included in the gene list as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). AKT2 is a red gene in the Insulin resistance (including lipodystrophy) (Version 1.6) panel and only 1 variant has been reported when this gene was reviewed for that panel (2016). There has not been any new variants for this gene.
Severe insulin resistance and lipodystrophy syndromes v0.14 AKT2 Ivone Leong Gene: akt2 has been classified as Red List (Low Evidence).
Severe insulin resistance and lipodystrophy syndromes v0.14 AKT2 Ivone Leong Publications for gene: AKT2 were set to
Severe insulin resistance and lipodystrophy syndromes v0.13 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 to Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900; Partial lipodystrophy
Severe insulin resistance and lipodystrophy syndromes v0.12 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853 to Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Severe insulin resistance and lipodystrophy syndromes v0.9 AKT2 Ivone Leong gene: AKT2 was added
gene: AKT2 was added to Lipodystrophy - childhood onset. Sources: Expert list
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853