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Congenital hyperinsulinism v1.48 INSR Ivone Leong Phenotypes for gene: INSR were changed from Leprechaunism, 246200; hyperinsulinemic hypoglycaemia to Leprechaunism, 246200; hyperinsulinemic hypoglycaemia; Autosomal dominant postprandial hypoglycaemia
Congenital hyperinsulinism v1.39 INSR Ivone Leong Classified gene: INSR as Green List (high evidence)
Congenital hyperinsulinism v1.39 INSR Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).
Congenital hyperinsulinism v1.39 INSR Ivone Leong Gene: insr has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.38 INSR Jayne Houghton commented on gene: INSR: We have identified 5 individuals with heterozygous dominant negative INSR variants from 4 different families here in Exeter.
Congenital hyperinsulinism v1.24 INSR Ivone Leong Phenotypes for gene: INSR were changed from Leprechaunism, 246200 to Leprechaunism, 246200; hyperinsulinemic hypoglycaemia
Congenital hyperinsulinism v1.23 INSR Ivone Leong Publications for gene: INSR were set to
Congenital hyperinsulinism v1.22 INSR Ivone Leong Mode of inheritance for gene: INSR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.8 INSR Jayne Houghton reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 15161766; Phenotypes: hyperinsulinemic hypoglycaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital hyperinsulinism v1.6 INSR Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.5 INSR Ivone Leong Source NHS GMS was added to INSR.