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Congenital hyperinsulinism v3.4 AKT2 Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: AKT2.
Tag Q4_21_rating was removed from gene: AKT2.
Tag Q4_21_phenotype was removed from gene: AKT2.
Congenital hyperinsulinism v2.32 AKT2 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: AKT2.
Congenital hyperinsulinism v2.32 AKT2 Arina Puzriakova commented on gene: AKT2
Congenital hyperinsulinism v2.29 AKT2 Eleanor Williams Tag Q4_22_rating was removed from gene: AKT2.
Tag Q4_21_rating tag was added to gene: AKT2.
Congenital hyperinsulinism v2.29 AKT2 Eleanor Williams Tag Q4_22_rating tag was added to gene: AKT2.
Congenital hyperinsulinism v2.7 AKT2 Ivone Leong Tag Q4_21_phenotype tag was added to gene: AKT2.
Congenital hyperinsulinism v2.7 AKT2 Ivone Leong Tag Q4_21_expert_review tag was added to gene: AKT2.
Congenital hyperinsulinism v2.5 AKT2 Arina Puzriakova Phenotypes for gene: AKT2 were changed from hypoinsulinemic hypoketotic hypoglycemia, 240900; Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Congenital hyperinsulinism v2.1 AKT2 Zornitza Stark reviewed gene: AKT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital hyperinsulinism v1.42 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from hypoinsulinemic hypoketotic hypoglycemia to hypoinsulinemic hypoketotic hypoglycemia, 240900; Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth
Congenital hyperinsulinism v1.37 AKT2 Ivone Leong Added comment: Comment on mode of pathogenicity: Variants in this gene has an activating effect.
Congenital hyperinsulinism v1.37 AKT2 Ivone Leong Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Congenital hyperinsulinism v1.32 AKT2 Ivone Leong Classified gene: AKT2 as Green List (high evidence)
Congenital hyperinsulinism v1.32 AKT2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).
Congenital hyperinsulinism v1.32 AKT2 Ivone Leong Gene: akt2 has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.31 AKT2 Ivone Leong Publications for gene: AKT2 were set to
Congenital hyperinsulinism v1.30 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from to hypoinsulinemic hypoketotic hypoglycemia
Congenital hyperinsulinism v1.29 AKT2 Ivone Leong Mode of inheritance for gene: AKT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.8 AKT2 Jayne Houghton reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21979934, 24285683; Phenotypes: hypoinsulinemic hypoketotic hypoglycemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital hyperinsulinism v1.8 AKT2 Jayne Houghton Deleted their review
Congenital hyperinsulinism v1.8 AKT2 Jayne Houghton reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21979934, 24285683; Phenotypes: hypoinsulinemic hypoketotic hypoglycemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.6 AKT2 Ivone Leong reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.5 AKT2 Ivone Leong gene: AKT2 was added
gene: AKT2 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: AKT2 was set to