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Congenital hyperinsulinism v3.4 GPC3 Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: GPC3.
Tag Q4_21_rating was removed from gene: GPC3.
Tag Q4_21_phenotype was removed from gene: GPC3.
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 v3.1 Catherine Snow Panel version 3.0 has been signed off on 2023-03-22
Congenital hyperinsulinism v3.0 Catherine Snow promoted panel to version 3.0
Congenital hyperinsulinism v2.33 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from non-syndromic congeital hyperinsulinism; Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979 to non-syndromic congeital hyperinsulinism; Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; CACNA1C-related disorder
Congenital hyperinsulinism v2.32 NSD1 Arina Puzriakova Tag Q4_21_rating was removed from gene: NSD1.
Tag Q3_22_NHS_review was removed from gene: NSD1.
Congenital hyperinsulinism v2.32 MAGEL2 Arina Puzriakova Tag Q3_22_rating was removed from gene: MAGEL2.
Tag Q3_22_MOI was removed from gene: MAGEL2.
Tag Q3_22_NHS_review was removed from gene: MAGEL2.
Congenital hyperinsulinism v2.32 HK1 Arina Puzriakova Tag Q3_22_rating was removed from gene: HK1.
Tag Q3_22_MOI was removed from gene: HK1.
Tag Q3_22_NHS_review was removed from gene: HK1.
Congenital hyperinsulinism v2.32 CACNA1D Arina Puzriakova Tag Q3_22_rating was removed from gene: CACNA1D.
Tag Q3_22_NHS_review was removed from gene: CACNA1D.
Congenital hyperinsulinism v2.32 CACNA1C Arina Puzriakova Tag Q3_22_rating was removed from gene: CACNA1C.
Tag Q3_22_MOI was removed from gene: CACNA1C.
Tag Q3_22_NHS_review was removed from gene: CACNA1C.
Congenital hyperinsulinism v2.32 GPC3 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: GPC3.
Congenital hyperinsulinism v2.32 AKT2 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: AKT2.
Congenital hyperinsulinism v2.32 GPC3 Arina Puzriakova commented on gene: GPC3
Congenital hyperinsulinism v2.32 AKT2 Arina Puzriakova commented on gene: AKT2
Congenital hyperinsulinism v2.32 NSD1 Arina Puzriakova reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.32 MAGEL2 Arina Puzriakova reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.32 HK1 Arina Puzriakova reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.32 CACNA1D Arina Puzriakova reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.32 CACNA1C Arina Puzriakova reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v2.31 NSD1 Arina Puzriakova Source Expert Review Green was added to NSD1.
Source NHS GMS was added to NSD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital hyperinsulinism v2.31 MAGEL2 Arina Puzriakova Source Expert Review Green was added to MAGEL2.
Source NHS GMS was added to MAGEL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital hyperinsulinism v2.31 HK1 Arina Puzriakova Source Expert Review Green was added to HK1.
Source NHS GMS was added to HK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital hyperinsulinism v2.31 CACNA1D Arina Puzriakova Source Expert Review Green was added to CACNA1D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital hyperinsulinism v2.31 CACNA1C Arina Puzriakova Source Expert Review Green was added to CACNA1C.
Source NHS GMS was added to CACNA1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital hyperinsulinism v2.30 HK1 Eleanor Williams Classified gene: HK1 as Amber List (moderate evidence)
Congenital hyperinsulinism v2.30 HK1 Eleanor Williams Added comment: Comment on list classification: Recommended for GREEN rating following GMS review. Sufficient cases. The paper has not yet been published but has been accepted for publication. Note that the variants are in a non-coding region and therefore may not be prioritised by tiering in the current Genomics England pipeline.
Congenital hyperinsulinism v2.30 HK1 Eleanor Williams Gene: hk1 has been classified as Amber List (Moderate Evidence).
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 GPC3 Eleanor Williams Tag Q4_21_rating tag was added to gene: GPC3.
Congenital hyperinsulinism v2.29 AKT2 Eleanor Williams Tag Q4_22_rating tag was added to gene: AKT2.
Congenital hyperinsulinism v2.29 MAGEL2 Sarah Leigh Added comment: Comment on phenotypes: Congenital hyperinsulinism with hypoglycaemia
Congenital hyperinsulinism v2.29 MAGEL2 Sarah Leigh Phenotypes for gene: MAGEL2 were changed from to Schaaf-Yang syndrome, OMIM:615547; Schaaf-Yang syndrome, MONDO:0014243
Congenital hyperinsulinism v2.28 MAGEL2 Sarah Leigh Classified gene: MAGEL2 as Amber List (moderate evidence)
Congenital hyperinsulinism v2.28 MAGEL2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital hyperinsulinism v2.28 MAGEL2 Sarah Leigh Gene: magel2 has been classified as Amber List (Moderate Evidence).
Congenital hyperinsulinism v2.27 MAGEL2 Sarah Leigh Tag Q3_22_rating tag was added to gene: MAGEL2.
Tag Q3_22_MOI tag was added to gene: MAGEL2.
Tag Q3_22_NHS_review tag was added to gene: MAGEL2.
Congenital hyperinsulinism v2.27 NSD1 Sarah Leigh Tag Q3_22_NHS_review tag was added to gene: NSD1.
Congenital hyperinsulinism v2.27 NSD1 Sarah Leigh Phenotypes for gene: NSD1 were changed from Sotos syndrome (OMIM#117550) to Sotos syndrome, OMIM:117550; Sotos syndrome 1, MONDO:0007299
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh changed review comment from: Comment on publications: this article is a preprint, the PMID will be added when avaiable; to: Comment on publications: this article is a preprint, the PMID will be added when available
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: HK1.
Tag Q3_22_rating tag was added to gene: HK1.
Tag Q3_22_MOI tag was added to gene: HK1.
Tag Q3_22_NHS_review tag was added to gene: HK1.
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh edited their review of gene: HK1: Changed rating: GREEN
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh changed review comment from: Fourteen non-coding de novo mutations affecting a 42bp conserved region, encompassed by a regulatory element in intron 2 of HK1 have been associated with congenital hyperinsulinism in the preprint https://doi.org/10.1101/2021.12.03.21267240; to: Fourteen non-coding de novo mutations affecting a 42bp conserved region, encompassed by a regulatory element in intron 2 of HK1 have been associated with congenital hyperinsulinism (Wakeling et al Nature Genetics 2022 (accepted for publication) medRxiv preprint doi: https://doi.org/10.1101/2021.12.03.21267240).
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh edited their review of gene: HK1: Added comment: Fourteen non-coding de novo mutations affecting a 42bp conserved region, encompassed by a regulatory element in intron 2 of HK1 have been associated with congenital hyperinsulinism in the preprint https://doi.org/10.1101/2021.12.03.21267240; Changed rating: AMBER
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh Classified gene: HK1 as Amber List (moderate evidence)
Congenital hyperinsulinism v2.26 HK1 Sarah Leigh Gene: hk1 has been classified as Amber List (Moderate Evidence).
Congenital hyperinsulinism v2.25 HK1 Sarah Leigh Phenotypes for gene: HK1 were changed from to Congenital hyperinsulinism
Congenital hyperinsulinism v2.24 HK1 Sarah Leigh Added comment: Comment on publications: this article is a preprint, the PMID will be added when avaiable
Congenital hyperinsulinism v2.24 HK1 Sarah Leigh Publications for gene: HK1 were set to
Congenital hyperinsulinism v2.23 CACNA1D Sarah Leigh Tag Q3_22_rating tag was added to gene: CACNA1D.
Tag Q3_22_NHS_review tag was added to gene: CACNA1D.
Congenital hyperinsulinism v2.23 CACNA1D Sarah Leigh edited their review of gene: CACNA1D: Added comment: Associated with phenotype in OMIM and as strong Gen2Phen gene for Primary aldosteronism, seizures, and neurologic abnormalities (OMIM:615474). Two variants have been reported in two unrelated cases of congenital hyperinsulinaemic hypoglycaemia; PMID: 28318089 reports: c.1319G>A (p.G403D) in a case who also has heart defects and severe hypotonia and PMID: 32336187 reports: c.812T>A (p.L271H) in a case who also has primary hyperaldosteronism and hypotonia. A third de novo case has been reported in the review provided by Eleanor Williams on behalf of Jayne Houghton and Kevin Colclough, Exeter Genomics Laboratory, SWGLH.; Changed rating: GREEN
Congenital hyperinsulinism v2.23 CACNA1D Sarah Leigh Classified gene: CACNA1D as Amber List (moderate evidence)
Congenital hyperinsulinism v2.23 CACNA1D Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital hyperinsulinism v2.23 CACNA1D Sarah Leigh Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Congenital hyperinsulinism v2.22 CACNA1D Sarah Leigh Publications for gene: CACNA1D were set to 28318089
Congenital hyperinsulinism v2.21 CACNA1C Sarah Leigh Tag Q3_22_MOI tag was added to gene: CACNA1C.
Congenital hyperinsulinism v2.21 CACNA1C Sarah Leigh Tag Q3_22_rating tag was added to gene: CACNA1C.
Tag Q3_22_NHS_review tag was added to gene: CACNA1C.
Congenital hyperinsulinism v2.21 CACNA1C Sarah Leigh Classified gene: CACNA1C as Amber List (moderate evidence)
Congenital hyperinsulinism v2.21 CACNA1C Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital hyperinsulinism v2.21 CACNA1C Sarah Leigh Gene: cacna1c has been classified as Amber List (Moderate Evidence).
Congenital hyperinsulinism v2.20 CACNA1C Sarah Leigh edited their review of gene: CACNA1C: Added comment: Associated with in OMIM and as definitive Gen2Phen gene for Timothy syndrome (OMIM:601005). At least two CACNA1C variants have been reported in numerous cases of Timothy syndrome.
PMID: 35897673 reports novel heterozygous CACNA1C variant in a patient with congenital hyperinsulinism (CHI), which appears to have gain-of-function and loss-of-function effects at the electrophysiological level, explaining the hyperinsulinism and resulting hypoglycemia in the patient reported. It appeared that c.1679T>C, p.L566P (NM_000719.6) reported in this patient has a minor effects on the cardiac action potential in an in silico model, in contrast to c.1216G>T, p.G406R (NM_000719.6) which is associated with the Long QT in Timothy syndrome (OMIM:601005). Therefore the authors conclude that this represents a novel congeital non-syndromic hyperinsulinism.
Hypoglycemia is also seen in Timothy syndrome patients with c.1216G>T, p.G406R (Table S3, PMID: 35897673), it would therefore be appropriate to screen other patients with hyperinsulinism / hypoglycemia for CACNA1C variants.; Changed rating: GREEN
Congenital hyperinsulinism v2.20 CACNA1C Sarah Leigh Phenotypes for gene: CACNA1C were changed from non-syndromic congeital hyperinsulinism to non-syndromic congeital hyperinsulinism; Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979
Congenital hyperinsulinism v2.19 CACNA1C Sarah Leigh Added comment: Comment on mode of pathogenicity: In vitro studies show that c.1679T>C, p.Leu566Pro (NM_000719.6) appears to have loss-of-function effects by altering current amplitudes in mutant channels and a gain-of-function effect by slowing the voltage-dependent inactivation (PMID: 35897673).
Congenital hyperinsulinism v2.19 CACNA1C Sarah Leigh Mode of pathogenicity for gene: CACNA1C was changed from to Other
Congenital hyperinsulinism v2.18 CACNA1C Sarah Leigh Phenotypes for gene: CACNA1C were changed from to non-syndromic congeital hyperinsulinism
Congenital hyperinsulinism v2.17 MAGEL2 Sarah Leigh Mode of inheritance for gene: MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Congenital hyperinsulinism v2.16 MAGEL2 Sarah Leigh Publications for gene: MAGEL2 were set to
Congenital hyperinsulinism v2.15 HK1 Sarah Leigh Mode of inheritance for gene: HK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hyperinsulinism v2.14 CACNA1C Sarah Leigh Publications for gene: CACNA1C were set to
Congenital hyperinsulinism v2.13 CACNA1C Sarah Leigh Mode of inheritance for gene: CACNA1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hyperinsulinism v2.12 NSD1 Eleanor Williams reviewed gene: NSD1: Rating: ; Mode of pathogenicity: ; Publications: :30719864; Phenotypes: Hyperinsulinaemic hypoglycaemia, distinctive facial features, overgrowth in childhood and developmental delay.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hyperinsulinism v2.12 MAGEL2 Eleanor Williams reviewed gene: MAGEL2: Rating: ; Mode of pathogenicity: ; Publications: 25473036, 29599419, 31397880; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Congenital hyperinsulinism v2.12 HK1 Eleanor Williams reviewed gene: HK1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hyperinsulinism v2.12 CACNA1D Eleanor Williams reviewed gene: CACNA1D: Rating: ; Mode of pathogenicity: ; Publications: 28318089, 32336187; Phenotypes: congenital hyperinsulinism, hypotonia and heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hyperinsulinism v2.12 CACNA1C Eleanor Williams reviewed gene: CACNA1C: Rating: ; Mode of pathogenicity: ; Publications: 35897673; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hyperinsulinism v2.11 MAGEL2 Eleanor Williams gene: MAGEL2 was added
gene: MAGEL2 was added to Congenital hyperinsulinism. Sources: Expert review
Mode of inheritance for gene: MAGEL2 was set to
Congenital hyperinsulinism v2.11 HK1 Eleanor Williams gene: HK1 was added
gene: HK1 was added to Congenital hyperinsulinism. Sources: Expert review
Mode of inheritance for gene: HK1 was set to
Congenital hyperinsulinism v2.11 CACNA1C Eleanor Williams gene: CACNA1C was added
gene: CACNA1C was added to Congenital hyperinsulinism. Sources: Expert review
Mode of inheritance for gene: CACNA1C was set to
Congenital hyperinsulinism v2.10 SLC16A1 Sarah Leigh edited their review of gene: SLC16A1: Added comment: After consultation with Helen Brittain (Genomics England Clinical Fellow) hyperinsulinism is not part of the presenting phenotype in the biallelic cases, therefore the correct mode of inheritance for this panel is monoallelic.; Changed phenotypes to: Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hyperinsulinism v2.10 SLC16A1 Sarah Leigh Deleted their comment
Congenital hyperinsulinism v2.10 SLC16A1 Sarah Leigh Added comment: Comment on phenotypes: The phenotypes erythrocyte lactate transporter defect, OMIM:245340 and monocarboxylate transporter 1 deficiency, OMIM:616095 are also associated with SLC16A1 variants, however, these conditions are not relevant to this panel as they do not result in hyperinsulinism.
Congenital hyperinsulinism v2.10 SLC16A1 Sarah Leigh Phenotypes for gene: SLC16A1 were changed from Erythrocyte lactate transporter defect, OMIM:245340; Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Monocarboxylate transporter 1 deficiency, OMIM:616095 to Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021
Congenital hyperinsulinism v2.9 FOXA2 Arina Puzriakova Tag gene-checked tag was added to gene: FOXA2.
Congenital hyperinsulinism v2.9 SLC16A1 Sarah Leigh Added comment: Comment on phenotypes: Hyperinsulinism, Dominant;Erythrocyte lactate transporter defect, 245340;Autosomal dominant exercise-induced hyperinsulinism
Congenital hyperinsulinism v2.9 SLC16A1 Sarah Leigh Phenotypes for gene: SLC16A1 were changed from Hyperinsulinism, Dominant; Erythrocyte lactate transporter defect, 245340; Autosomal dominant exercise-induced hyperinsulinism to Erythrocyte lactate transporter defect, OMIM:245340; Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Monocarboxylate transporter 1 deficiency, OMIM:616095
Congenital hyperinsulinism v2.8 SLC16A1 Sarah Leigh reviewed gene: SLC16A1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrocyte lactate transporter defect, OMIM:245340, Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021, Monocarboxylate transporter 1 deficiency, OMIM:616095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital hyperinsulinism v2.8 NSD1 Ivone Leong Tag Q4_21_rating tag was added to gene: NSD1.
Congenital hyperinsulinism v2.8 NSD1 Ivone Leong Classified gene: NSD1 as Amber List (moderate evidence)
Congenital hyperinsulinism v2.8 NSD1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (Definitive). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Congenital hyperinsulinism v2.8 NSD1 Ivone Leong Gene: nsd1 has been classified as Amber List (Moderate Evidence).
Congenital hyperinsulinism v2.7 GPC3 Ivone Leong Tag Q4_21_phenotype tag was added to gene: GPC3.
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 v2.7 GPC3 Ivone Leong Tag Q4_21_expert_review tag was added to gene: GPC3.
Congenital hyperinsulinism v2.7 UCP2 Ivone Leong Tag watchlist tag was added to gene: UCP2.
Congenital hyperinsulinism v2.7 UCP2 Ivone Leong Classified gene: UCP2 as Amber List (moderate evidence)
Congenital hyperinsulinism v2.7 UCP2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Congenital hyperinsulinism v2.7 UCP2 Ivone Leong Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Congenital hyperinsulinism v2.6 UCP2 Ivone Leong Phenotypes for gene: UCP2 were changed from Hyperinsulinism to Hyperinsulinism, MONDO:0002177
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 v2.4 Ivone Leong Panel version has been signed off
Congenital hyperinsulinism v2.3 Ivone Leong Panel version has been signed off
Congenital hyperinsulinism v2.1 UCP2 Zornitza Stark gene: UCP2 was added
gene: UCP2 was added to Congenital hyperinsulinism. Sources: Expert list
Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UCP2 were set to 19065272
Phenotypes for gene: UCP2 were set to Hyperinsulinism
Review for gene: UCP2 was set to AMBER
Added comment: Two children reported with variants in this gene; however, these were inherited. Functional data (mouse model).
Sources: Expert list
Congenital hyperinsulinism v2.1 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Congenital hyperinsulinism. Sources: Expert list
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD1 were set to 30719864
Phenotypes for gene: NSD1 were set to Sotos syndrome (OMIM#117550)
Review for gene: NSD1 was set to GREEN
gene: NSD1 was marked as current diagnostic
Added comment: Hyperinsulinism is a documented feature of this syndrome: at least 9 individuals with NSD1 variants and hyperinsulinism reported; persistent in 3/9/
Sources: Expert list
Congenital hyperinsulinism v2.1 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1 312870; Mode of inheritance: None
Congenital hyperinsulinism v2.1 AKT2 Zornitza Stark reviewed gene: AKT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
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