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[
{
"created": "2023-12-27T12:12:40.200021Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_21_expert_review was removed from gene: GPC3.\nTag Q4_21_rating was removed from gene: GPC3.\nTag Q4_21_phenotype was removed from gene: GPC3.",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2023-12-27T12:07:07.500456Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_21_expert_review was removed from gene: AKT2.\nTag Q4_21_rating was removed from gene: AKT2.\nTag Q4_21_phenotype was removed from gene: AKT2.",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2023-03-22T15:10:04.682510Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "3.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T15:09:16.268086Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "3.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-15T15:28:23.759490Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.33",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:40:56.451504Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: NSD1.\nTag Q3_22_NHS_review was removed from gene: NSD1.",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:40:48.955824Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: MAGEL2.\nTag Q3_22_MOI was removed from gene: MAGEL2.\nTag Q3_22_NHS_review was removed from gene: MAGEL2.",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:40:28.011860Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: HK1.\nTag Q3_22_MOI was removed from gene: HK1.\nTag Q3_22_NHS_review was removed from gene: HK1.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:40:08.612173Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: CACNA1D.\nTag Q3_22_NHS_review was removed from gene: CACNA1D.",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:40:00.904237Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: CACNA1C.\nTag Q3_22_MOI was removed from gene: CACNA1C.\nTag Q3_22_NHS_review was removed from gene: CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:39:47.152158Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: GPC3.",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:39:33.832612Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: AKT2.",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:38.190196Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: GPC3",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:38.176235Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: AKT2",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:38.160620Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:38.146607Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:38.132220Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:38.114516Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:38.098461Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:24.568665Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to NSD1.\nSource NHS GMS was added to NSD1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:24.520601Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to MAGEL2.\nSource NHS GMS was added to MAGEL2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:24.470906Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to HK1.\nSource NHS GMS was added to HK1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:24.429928Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to CACNA1D.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:38:24.387973Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to CACNA1C.\nSource NHS GMS was added to CACNA1C.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-10-11T12:22:21.169355Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.30",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: HK1 as Amber List (moderate evidence)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-10-11T12:22:21.166186Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.30",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "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.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-10-11T12:22:21.149214Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.30",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-10-06T22:50:31.628649Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.29",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_22_rating was removed from gene: AKT2.\nTag Q4_21_rating tag was added to gene: AKT2.",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:55:10.352072Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.29",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: GPC3.",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-10-06T13:54:41.710302Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.29",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_22_rating tag was added to gene: AKT2.",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:23:31.900026Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Congenital hyperinsulinism with hypoglycaemia",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:23:31.883271Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: MAGEL2 were changed from to Schaaf-Yang syndrome, OMIM:615547; Schaaf-Yang syndrome, MONDO:0014243",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:21:31.183212Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: MAGEL2 as Amber List (moderate evidence)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:21:31.179478Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:21:31.148433Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:21:06.406931Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: MAGEL2.\nTag Q3_22_MOI tag was added to gene: MAGEL2.\nTag Q3_22_NHS_review tag was added to gene: MAGEL2.",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-09-27T16:13:35.901121Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_22_NHS_review tag was added to gene: NSD1.",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:48:42.919527Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NSD1 were changed from Sotos syndrome (OMIM#117550) to Sotos syndrome, OMIM:117550; Sotos syndrome 1, MONDO:0007299",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:22:43.608769Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:21:54.950460Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag non-coding-known-pathogenic tag was added to gene: HK1.\nTag Q3_22_rating tag was added to gene: HK1.\nTag Q3_22_MOI tag was added to gene: HK1.\nTag Q3_22_NHS_review tag was added to gene: HK1.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:20:49.193833Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: HK1: Changed rating: GREEN",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:20:43.321771Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-27T15:03:07.898765Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:58:49.176013Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: HK1 as Amber List (moderate evidence)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:58:49.168354Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:58:35.454753Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.25",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: HK1 were changed from to Congenital hyperinsulinism",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:57:50.431415Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.24",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on publications: this article is a preprint, the PMID will be added when avaiable",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:57:50.405244Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.24",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: HK1 were set to ",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:37:29.005786Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.23",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: CACNA1D.\nTag Q3_22_NHS_review tag was added to gene: CACNA1D.",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:36:52.681723Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.23",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:12:51.269499Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.23",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CACNA1D as Amber List (moderate evidence)",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:12:51.266018Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.23",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2022-09-27T13:12:51.233155Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.23",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cacna1d has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2022-09-27T12:47:24.735072Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.22",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CACNA1D were set to 28318089",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2022-09-27T12:42:14.852061Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_22_MOI tag was added to gene: CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-27T11:42:46.255477Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: CACNA1C.\nTag Q3_22_NHS_review tag was added to gene: CACNA1C.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-27T11:42:17.565351Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CACNA1C as Amber List (moderate evidence)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-27T11:42:17.561489Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-27T11:42:17.532767Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-27T11:41:45.892009Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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.\r\nPMID: 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. \r\nHypoglycemia 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",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-27T10:51:59.896380Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1C were changed from non-syndromic congeital hyperinsulinism to non-syndromic congeital hyperinsulinism; Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-27T10:36:44.916915Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-27T10:36:44.893401Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CACNA1C was changed from to Other",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-27T10:30:22.766575Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1C were changed from to non-syndromic congeital hyperinsulinism",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:31:21.136290Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:27:49.552074Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: MAGEL2 were set to ",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-09-23T11:18:51.451189Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: HK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-22T16:06:58.089499Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CACNA1C were set to ",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-22T16:06:46.764620Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-14T16:39:36.801347Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "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",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-09-14T16:39:36.784849Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: MAGEL2: Rating: ; Mode of pathogenicity: ; Publications: 25473036, 29599419, 31397880; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-09-14T16:39:36.768308Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: HK1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-14T16:39:36.754702Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2022-09-14T16:39:36.738794Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: ; Mode of pathogenicity: ; Publications: 35897673; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-14T16:39:16.362188Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: MAGEL2 was added\ngene: MAGEL2 was added to Congenital hyperinsulinism. Sources: Expert review\nMode of inheritance for gene: MAGEL2 was set to ",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2022-09-14T16:39:16.299189Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: HK1 was added\ngene: HK1 was added to Congenital hyperinsulinism. Sources: Expert review\nMode of inheritance for gene: HK1 was set to ",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-14T16:39:16.250786Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: CACNA1C was added\ngene: CACNA1C was added to Congenital hyperinsulinism. Sources: Expert review\nMode of inheritance for gene: CACNA1C was set to ",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-06-07T09:46:41.595717Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-06-07T09:40:56.802773Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-06-07T09:39:27.805084Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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.",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-06-07T09:39:27.789165Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T13:35:03.928275Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: FOXA2.",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2022-04-19T15:19:23.145581Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Hyperinsulinism, Dominant;Erythrocyte lactate transporter defect, 245340;Autosomal dominant exercise-induced hyperinsulinism",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-04-19T15:19:23.130504Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-04-19T15:18:40.771323Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2021-12-03T16:14:27.526891Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: NSD1.",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2021-12-03T16:14:11.621998Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: NSD1 as Amber List (moderate evidence)",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2021-12-03T16:14:11.618644Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2021-12-03T16:14:11.590151Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: nsd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2021-12-03T15:53:12.172859Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_phenotype tag was added to gene: GPC3.",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2021-12-03T15:52:58.990181Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_phenotype tag was added to gene: AKT2.",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2021-12-03T15:52:53.221076Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_expert_review tag was added to gene: AKT2.",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2021-12-03T15:51:04.331704Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_expert_review tag was added to gene: GPC3.",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2021-12-03T14:27:26.391282Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: UCP2.",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2021-12-03T14:27:18.184391Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: UCP2 as Amber List (moderate evidence)",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2021-12-03T14:27:18.181111Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2021-12-03T14:27:18.147887Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ucp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2021-12-03T14:26:02.046971Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: UCP2 were changed from Hyperinsulinism to Hyperinsulinism, MONDO:0002177",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2021-01-29T10:25:58.543924Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2020-02-25T10:08:24.289883Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.4",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-25T09:38:27.226093Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-14T08:31:34.450138Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UCP2 was added\ngene: UCP2 was added to Congenital hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UCP2 were set to 19065272\nPhenotypes for gene: UCP2 were set to Hyperinsulinism\nReview for gene: UCP2 was set to AMBER\nAdded comment: Two children reported with variants in this gene; however, these were inherited. Functional data (mouse model). \nSources: Expert list",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-02-14T08:24:17.595012Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSD1 was added\ngene: NSD1 was added to Congenital hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSD1 were set to 30719864\nPhenotypes for gene: NSD1 were set to Sotos syndrome (OMIM#117550)\nReview for gene: NSD1 was set to GREEN\ngene: NSD1 was marked as current diagnostic\nAdded comment: Hyperinsulinism is a documented feature of this syndrome: at least 9 individuals with NSD1 variants and hyperinsulinism reported; persistent in 3/9/ \nSources: Expert list",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T08:01:51.810181Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1 312870; Mode of inheritance: None",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-02-14T07:50:48.216678Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-07-31T13:49:21.587719Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.0",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T13:48:15.179990Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:28:18.746138Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.51",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:27:54.184449Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1 to Kabuki syndrome 1, 147920; Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:27:23.987683Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.49",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:26:48.348834Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: INSR were changed from Leprechaunism, 246200; hyperinsulinemic hypoglycaemia to Leprechaunism, 246200; hyperinsulinemic hypoglycaemia; Autosomal dominant postprandial hypoglycaemia",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:26:33.527002Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HNF4A were changed from Hyperinsulinism, Dominant to Hyperinsulinism, Dominant; Autosomal dominant Hyperinsulinism; MODY, type I, 125850",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:25:47.339198Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1A were changed from to Autosomal dominant Hyperinsulinism; MODY, type III, 600496",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:24:43.424707Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:23:14.078313Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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)",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:20:51.331418Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.43",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FOXA2 were changed from Hyperinsulinism; hypopituitarism to Hyperinsulinism; hypopituitarism; Dominant Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:20:17.237140Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AKT2 were changed from hypoinsulinemic hypoketotic hypoglycemia to hypoinsulinemic hypoketotic hypoglycemia, 240900; Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-07-15T14:18:47.227301Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.41",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from Hyperinsulinism to Hyperinsulinism; R144\nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-02-15T11:04:20.113306Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: INSR as Green List (high evidence)",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-02-15T11:04:20.110500Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green based on evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-02-15T11:04:20.096701Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: insr has been classified as Green List (High Evidence).",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-02-15T11:03:11.558456Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.38",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "reviewed gene: TRMT10A: Rating: RED; Mode of pathogenicity: ; Publications: 25053765; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2019-02-15T11:03:11.546133Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.38",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "reviewed gene: MAFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2019-02-15T11:03:11.528438Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.38",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "commented on gene: INSR: We have identified 5 individuals with heterozygous dominant negative INSR variants from 4 different families here in Exeter.",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:10:58.006556Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: Variants in this gene has an activating effect.",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:10:57.992176Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:48:00.898361Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: GPC3 as Green List (high evidence)",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:48:00.895952Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:48:00.880599Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Green List (High Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:33:55.124870Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GPC3 were set to ",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:33:40.400704Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GPC3 were changed from to neonatal hypoglycaemia; distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies; supernumerary nipples",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:32:52.072665Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:29:07.702733Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: AKT2 as Green List (high evidence)",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:29:07.699757Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:29:07.681610Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Green List (High Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:23:14.817587Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: AKT2 were set to ",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:22:41.753111Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AKT2 were changed from to hypoinsulinemic hypoketotic hypoglycemia",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:22:28.082343Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:21:18.631217Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: FOXA2 as Green List (high evidence)",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:21:18.628688Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:21:18.613746Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: foxa2 has been classified as Green List (High Evidence).",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:15:34.416281Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FOXA2 were changed from to Hyperinsulinism; hypopituitarism",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:15:14.727922Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: FOXA2 were set to ",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:14:34.584525Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:06:06.661988Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: INSR were changed from Leprechaunism, 246200 to Leprechaunism, 246200; hyperinsulinemic hypoglycaemia",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:05:57.232512Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: INSR were set to ",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-01-28T11:05:50.626953Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: INSR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:57:02.218145Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1D were changed from to hyperinsulinaemic hypoglycaemia, heart defects; severe hypotonia",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:56:55.684558Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CACNA1D were set to ",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:56:43.635185Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:52:13.998041Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PMM2 as Green List (high evidence)",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:52:13.995401Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:52:13.975537Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:48:37.018001Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from to Hyperinsulinemic Hypoglycaemia; polycystic kidney disease",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:48:27.627758Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:48:15.775056Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:47:38.985953Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:47:32.238859Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KMT2D were set to ",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:47:15.674919Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:45:28.819644Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:45:22.218302Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KDM6A were set to ",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:45:06.065508Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM6A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2019-01-25T13:02:54.979337Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "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",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2019-01-25T10:11:35.887082Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "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",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-25T10:10:56.086146Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-25T10:10:25.332549Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "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",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-25T10:04:12.125622Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "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",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2019-01-25T09:58:01.646244Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-01-25T09:56:26.588648Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-01-25T09:55:39.491377Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "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",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-01-25T09:49:37.081924Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "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",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-01-25T09:43:29.275209Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "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",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-01-24T14:34:34.687673Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: KDM6A as Green List (high evidence)",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2019-01-24T14:34:34.681835Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2019-01-24T14:34:09.932068Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.7",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: KMT2D as Green List (high evidence)",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-01-24T14:34:09.926207Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.7",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-01-24T14:33:50.755523Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "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",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-01-24T14:33:14.039216Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "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",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.213334Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.195372Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.177786Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.162636Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MAFA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.146969Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.130609Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.116705Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.101302Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.084177Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.066824Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.051256Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.034572Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:42.016297Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:41.995326Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:41.976220Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:41.959234Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:41.945216Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-11T14:24:41.918334Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:51.513556Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TRMT10A.",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:51.459024Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC16A1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:51.416790Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Congenital hyperinsulinism. Sources: NHS GMS\nMode of inheritance for gene: PMM2 was set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:51.366621Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MAFA was added\ngene: MAFA was added to Congenital hyperinsulinism. Sources: NHS GMS\nMode of inheritance for gene: MAFA was set to ",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:51.329896Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Congenital hyperinsulinism. Sources: NHS GMS\nMode of inheritance for gene: KMT2D was set to ",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:51.292943Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to Congenital hyperinsulinism. Sources: NHS GMS\nMode of inheritance for gene: KDM6A was set to ",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:51.241941Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to KCNJ11.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:51.187350Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to INSR.",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:51.130628Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HNF4A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:51.067510Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HNF1A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:50.998026Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HADH.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:50.948681Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GPC3 was added\ngene: GPC3 was added to Congenital hyperinsulinism. Sources: NHS GMS\nMode of inheritance for gene: GPC3 was set to ",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:50.886588Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GLUD1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:50.820458Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GCK.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:50.768692Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: FOXA2 was added\ngene: FOXA2 was added to Congenital hyperinsulinism. Sources: NHS GMS\nMode of inheritance for gene: FOXA2 was set to ",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:50.715529Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CACNA1D was added\ngene: CACNA1D was added to Congenital hyperinsulinism. Sources: NHS GMS\nMode of inheritance for gene: CACNA1D was set to ",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:50.668360Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: AKT2 was added\ngene: AKT2 was added to Congenital hyperinsulinism. Sources: NHS GMS\nMode of inheritance for gene: AKT2 was set to ",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-11T11:54:50.593435Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ABCC8.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2018-11-12T14:23:07.140931Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "1.3",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel name changed from Hyperinsulinism to Congenital hyperinsulinism\nList of related panels changed from to Hyperinsulinism\nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-08-14T15:06:12.018000Z",
"panel_name": "Hyperinsulinism",
"panel_id": 308,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed HNF4A",
"entity_name": "HNF4A",
"entity_type": "gene"
}
]