15 Jul 2019
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
15 Feb 2019
Congenital hyperinsulinism v1.39
INSR
Ivone Leong Classified gene: INSR as Green List (high evidence)
15 Feb 2019
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).
15 Feb 2019
Congenital hyperinsulinism v1.39
INSR
Ivone Leong Gene: insr has been classified as Green List (High Evidence).
15 Feb 2019
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.
28 Jan 2019
Congenital hyperinsulinism v1.24
INSR
Ivone Leong Phenotypes for gene: INSR were changed from Leprechaunism, 246200 to Leprechaunism, 246200; hyperinsulinemic hypoglycaemia
28 Jan 2019
Congenital hyperinsulinism v1.23
INSR
Ivone Leong Publications for gene: INSR were set to
28 Jan 2019
Congenital hyperinsulinism v1.22
INSR
Ivone Leong Mode of inheritance for gene: INSR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Jan 2019
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
11 Jan 2019
Congenital hyperinsulinism v1.6
INSR
Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Jan 2019
Congenital hyperinsulinism v1.5
INSR
Ivone Leong Source NHS GMS was added to INSR.