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Congenital hyperinsulinism v2.0 Ivone Leong promoted panel to version 2.0
Congenital hyperinsulinism v1.52 CACNA1D Ivone Leong edited their review of gene: CACNA1D: Added comment: There is currently insufficient evidence for the promotion of this gene to a different gene status; therefore, it will remain red for now.; Changed rating: RED
Congenital hyperinsulinism v1.51 SLC16A1 Ivone Leong Phenotypes for gene: SLC16A1 were changed from Hyperinsulinism, Dominant; Erythrocyte lactate transporter defect, 245340 to Hyperinsulinism, Dominant; Erythrocyte lactate transporter defect, 245340; Autosomal dominant exercise-induced hyperinsulinism
Congenital hyperinsulinism v1.50 KMT2D Ivone Leong Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1 to Kabuki syndrome 1, 147920; Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome
Congenital hyperinsulinism v1.49 KDM6A Ivone Leong Phenotypes for gene: KDM6A were changed from Kabuki syndrome 2 to Kabuki syndrome 2, 300867; X-linked dominant neonatal hypoglycaemia as part of Kabuki syndrome
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 v1.47 HNF4A Ivone Leong Phenotypes for gene: HNF4A were changed from Hyperinsulinism, Dominant to Hyperinsulinism, Dominant; Autosomal dominant Hyperinsulinism; MODY, type I, 125850
Congenital hyperinsulinism v1.46 HNF1A Ivone Leong Phenotypes for gene: HNF1A were changed from to Autosomal dominant Hyperinsulinism; MODY, type III, 600496
Congenital hyperinsulinism v1.45 HADH Ivone Leong Phenotypes for gene: HADH were changed from Congenital hyperinsulinemic hypoglycemia (HH); Hyperinsulinism, Dominant/Recessive; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 to Congenital hyperinsulinemic hypoglycemia (HH); Hyperinsulinism, Dominant/Recessive; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Protein sensitive hyperinsulinism
Congenital hyperinsulinism v1.44 GPC3 Ivone Leong Phenotypes for gene: GPC3 were changed from neonatal hypoglycaemia; distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies; supernumerary nipples to neonatal hypoglycaemia; distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies; supernumerary nipples; X-linked recessive hypoglycaemia as part of Simpson-Golabi-Behmel syndrome (312870)
Congenital hyperinsulinism v1.43 FOXA2 Ivone Leong Phenotypes for gene: FOXA2 were changed from Hyperinsulinism; hypopituitarism to Hyperinsulinism; hypopituitarism; Dominant Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities
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 v1.41 Ivone Leong List of related panels changed from Hyperinsulinism to Hyperinsulinism; R144
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
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 TRMT10A Jayne Houghton reviewed gene: TRMT10A: Rating: RED; Mode of pathogenicity: ; Publications: 25053765; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.38 MAFA Jayne Houghton reviewed gene: MAFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v1.37 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 v1.36 GPC3 Ivone Leong Classified gene: GPC3 as Green List (high evidence)
Congenital hyperinsulinism v1.36 GPC3 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).
Congenital hyperinsulinism v1.36 GPC3 Ivone Leong Gene: gpc3 has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.35 GPC3 Ivone Leong Publications for gene: GPC3 were set to
Congenital hyperinsulinism v1.34 GPC3 Ivone Leong Phenotypes for gene: GPC3 were changed from to neonatal hypoglycaemia; distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies; supernumerary nipples
Congenital hyperinsulinism v1.33 GPC3 Ivone Leong Mode of inheritance for gene: GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 v1.28 FOXA2 Ivone Leong Classified gene: FOXA2 as Green List (high evidence)
Congenital hyperinsulinism v1.28 FOXA2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).
Congenital hyperinsulinism v1.28 FOXA2 Ivone Leong Gene: foxa2 has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.27 FOXA2 Ivone Leong Phenotypes for gene: FOXA2 were changed from to Hyperinsulinism; hypopituitarism
Congenital hyperinsulinism v1.26 FOXA2 Ivone Leong Publications for gene: FOXA2 were set to
Congenital hyperinsulinism v1.25 FOXA2 Ivone Leong Mode of inheritance for gene: FOXA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v1.21 CACNA1D Ivone Leong Phenotypes for gene: CACNA1D were changed from to hyperinsulinaemic hypoglycaemia, heart defects; severe hypotonia
Congenital hyperinsulinism v1.20 CACNA1D Ivone Leong Publications for gene: CACNA1D were set to
Congenital hyperinsulinism v1.19 CACNA1D Ivone Leong Mode of inheritance for gene: CACNA1D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.18 PMM2 Ivone Leong Classified gene: PMM2 as Green List (high evidence)
Congenital hyperinsulinism v1.18 PMM2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH). PMM2 is a green gene on Congenital disorders of glycosylation (Version 1.21), Inborn errors of metabolism (Version 1.46) and Undiagnosed metabolic disorders (Version 1.90) panels.
Congenital hyperinsulinism v1.18 PMM2 Ivone Leong Gene: pmm2 has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.17 PMM2 Ivone Leong Phenotypes for gene: PMM2 were changed from to Hyperinsulinemic Hypoglycaemia; polycystic kidney disease
Congenital hyperinsulinism v1.16 PMM2 Ivone Leong Publications for gene: PMM2 were set to
Congenital hyperinsulinism v1.15 PMM2 Ivone Leong Mode of inheritance for gene: PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital hyperinsulinism v1.14 KMT2D Ivone Leong Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1
Congenital hyperinsulinism v1.13 KMT2D Ivone Leong Publications for gene: KMT2D were set to
Congenital hyperinsulinism v1.12 KMT2D Ivone Leong Mode of inheritance for gene: KMT2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.11 KDM6A Ivone Leong Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2
Congenital hyperinsulinism v1.10 KDM6A Ivone Leong Publications for gene: KDM6A were set to
Congenital hyperinsulinism v1.9 KDM6A Ivone Leong Mode of inheritance for gene: KDM6A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital hyperinsulinism v1.8 GPC3 Jayne Houghton reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301398; Phenotypes: neonatal hypoglycaemia, distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies, supernumerary nipples; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
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 v1.8 FOXA2 Jayne Houghton reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29329447, 28973288; Phenotypes: Hyperinsulinism, hypopituitarism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital hyperinsulinism v1.8 CACNA1D Jayne Houghton reviewed gene: CACNA1D: Rating: ; Mode of pathogenicity: Other; Publications: 28318089; Phenotypes: hyperinsulinaemic hypoglycaemia, heart defects, severe hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital hyperinsulinism v1.8 CACNA1D Jayne Houghton Deleted their review
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 v1.8 CACNA1D Jayne Houghton reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28318089; Phenotypes: hyperinsulinaemic hypoglycaemia, heart defects, severe hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.8 PMM2 Jayne Houghton reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28373276; Phenotypes: Hyperinsulinemic Hypoglycaemia, polycystic kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital hyperinsulinism v1.8 KDM6A Anna de Burca Classified gene: KDM6A as Green List (high evidence)
Congenital hyperinsulinism v1.8 KDM6A Anna de Burca Gene: kdm6a has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.7 KMT2D Anna de Burca Classified gene: KMT2D as Green List (high evidence)
Congenital hyperinsulinism v1.7 KMT2D Anna de Burca Gene: kmt2d has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.6 KMT2D Anna de Burca reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29907798; Phenotypes: Kabuki syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.6 KDM6A Anna de Burca reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29907798; Phenotypes: Kabuki syndrome 2; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital hyperinsulinism v1.6 TRMT10A Ivone Leong reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 SLC16A1 Ivone Leong reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 PMM2 Ivone Leong reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 MAFA Ivone Leong reviewed gene: MAFA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 KMT2D Ivone Leong reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 KDM6A Ivone Leong reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 KCNJ11 Ivone Leong reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 INSR Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 HNF4A Ivone Leong reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 HNF1A Ivone Leong reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 HADH Ivone Leong reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 GPC3 Ivone Leong reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 GLUD1 Ivone Leong reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 GCK Ivone Leong reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 FOXA2 Ivone Leong reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 CACNA1D Ivone Leong reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 AKT2 Ivone Leong reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 ABCC8 Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.5 TRMT10A Ivone Leong Source NHS GMS was added to TRMT10A.
Congenital hyperinsulinism v1.5 SLC16A1 Ivone Leong Source NHS GMS was added to SLC16A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 PMM2 Ivone Leong gene: PMM2 was added
gene: PMM2 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: PMM2 was set to
Congenital hyperinsulinism v1.5 MAFA Ivone Leong gene: MAFA was added
gene: MAFA was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: MAFA was set to
Congenital hyperinsulinism v1.5 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: KMT2D was set to
Congenital hyperinsulinism v1.5 KDM6A Ivone Leong gene: KDM6A was added
gene: KDM6A was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: KDM6A was set to
Congenital hyperinsulinism v1.5 KCNJ11 Ivone Leong Source NHS GMS was added to KCNJ11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 INSR Ivone Leong Source NHS GMS was added to INSR.
Congenital hyperinsulinism v1.5 HNF4A Ivone Leong Source NHS GMS was added to HNF4A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 HNF1A Ivone Leong Source NHS GMS was added to HNF1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 HADH Ivone Leong Source NHS GMS was added to HADH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 GPC3 Ivone Leong gene: GPC3 was added
gene: GPC3 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: GPC3 was set to
Congenital hyperinsulinism v1.5 GLUD1 Ivone Leong Source NHS GMS was added to GLUD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 GCK Ivone Leong Source NHS GMS was added to GCK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 FOXA2 Ivone Leong gene: FOXA2 was added
gene: FOXA2 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: FOXA2 was set to
Congenital hyperinsulinism v1.5 CACNA1D Ivone Leong gene: CACNA1D was added
gene: CACNA1D was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: CACNA1D was set to
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
Congenital hyperinsulinism v1.5 ABCC8 Ivone Leong Source NHS GMS was added to ABCC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.3 Ellen McDonagh Panel name changed from Hyperinsulinism to Congenital hyperinsulinism
List of related panels changed from to Hyperinsulinism
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Congenital hyperinsulinism HNF4A Sarah Leigh reviewed HNF4A