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[
{
"created": "2024-04-24T16:03:36.622246Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-03-01T14:37:16.274845Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.57",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SMPD4 as Amber List (moderate evidence)",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2024-03-01T14:37:16.265628Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.57",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are five individuals from three unrelated families with biallelic loss-of-function SMPD4 variants. They developed insulin-dependent diabetes, besides presenting with a severe neurodevelopmental disorder and microcephaly. In addition, review of past reports showed 27% of patients had insulin-dependent diabetes. \r\n\r\nThis gene can therefore be promoted to green rating in the next GMS review.",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2024-03-01T14:37:16.223304Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.57",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: smpd4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2024-03-01T14:31:54.652534Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.56",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD4 were changed from NDD, microcephaly and diabetes to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622; type 1 diabetes mellitus, MONDO:0005147",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2024-03-01T14:31:37.570141Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.55",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: SMPD4 were set to PMID: 36732302",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2024-03-01T13:24:03.981700Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.54",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: SMPD4.",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2024-03-01T13:23:30.270123Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.54",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: SMPD4: Changed publications to: 36732302",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2024-03-01T13:23:16.482298Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.54",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: SMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622, type 1 diabetes mellitus, MONDO:0005147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2024-01-03T12:36:20.725513Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_NHS_review was removed from gene: DUT.",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2024-01-03T12:35:55.634227Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Primary immunodeficiency or monogenic inflammatory bowel disease v4.133",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2024-01-03T12:35:55.574799Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: DUT was added\ngene: DUT was added to Monogenic diabetes. Sources: Expert Review Amber,Literature\nQ4_23_promote_green, Q4_23_NHS_review tags were added to gene: DUT.\nMode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DUT were set to 28073829; 35611808; 35931051\nPhenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome, OMIM:620044",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2023-11-10T16:45:58.021672Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.53",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: SMPD4 was added\ngene: SMPD4 was added to Monogenic diabetes. Sources: Literature\nMode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMPD4 were set to PMID: 36732302\nPhenotypes for gene: SMPD4 were set to NDD, microcephaly and diabetes\nPenetrance for gene: SMPD4 were set to Complete\nReview for gene: SMPD4 was set to AMBER\nAdded comment: PMID: 36732302 reported three independent families with multiple affected individuals with biallelic SMPD4 variants with severe NDD and insulin-dependent diabetes. Given the syndromic presentation - not sure about the relevancy for the panel. \nSources: Literature",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2022-11-03T15:04:21.437791Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist_moi tag was added to gene: HNF1A.",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-11-03T15:04:12.930251Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Homozygous loss-of-function germline variants are thought to be embryonically lethal, however one family including three insulin-treated family members diagnosed with diabetes before 20 years of age was identified by Misra et al. 2020 (PMID: 32001615) with a homozygous hypomorphic variant in the HNF1A gene. This is not yet sufficient to update the MOI but should be noted if further recessive cases are reported in the future.",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-11-03T15:04:12.905755Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-06-07T10:33:09.226778Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.50",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PAX4 were set to ",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2022-06-07T10:31:55.477669Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.49",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: KLF11 were set to ",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2022-06-07T10:27:59.290308Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.48",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: BLK were set to ",
"entity_name": "BLK",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:04:01.632889Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: MT-TL1.",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2022-03-16T13:08:18.991004Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on Region: ISCA-37432-Loss",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T10:24:43.532950Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.\nRequired Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2022-01-21T13:57:04.856468Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PLIN1 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": "PLIN1",
"entity_type": "gene"
},
{
"created": "2022-01-21T11:12:01.046303Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.45",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2022-01-21T10:24:17.297625Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.45",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PLIN1 were set to 21345103; 30020498; 11371650; 25695774",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2022-01-10T17:20:16.960533Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.44",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PSMB8 were changed from Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2021-07-28T09:59:13.952625Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700 to Lipodystrophy, congenital generalized, type 2, OMIM:269700",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-05-05T17:53:46.924726Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.42",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: WFS1 were set to 27217304; 27185633",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2021-05-05T17:53:21.298705Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.41",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: WFS1: Rating: ; Mode of pathogenicity: None; Publications: 33693650; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:37:30.056417Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, 608612 to Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:36:20.554391Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ZFP57 were changed from Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes to transient neonatal diabetes mellitus (disease), MONDO:0020525; Diabetes mellitus, transient neonatal, 1, OMIM:601410",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:34:51.901303Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nPrimrose syndrome, 259050;Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:34:51.888511Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB20 were changed from Primrose syndrome, 259050; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications) to diabetes mellitus (disease), MONDO:0005015",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:31:51.739761Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\ndiabetes insipidus or optic atrophy;Wolfram-like syndrome, autosomal dominant, 614296;Deafness, autosomal dominant 6/14/38, 600965;{Diabetes mellitus, noninsulin-dependent,association with};Deafness,autosomal dominant 6/14/38, 600965;Wolfram syndrome, 222300;{Diabetes mellitus, noninsulin-dependent, association with}, 125853;?Cataract 41,116400",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:31:51.721933Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WFS1 were changed from diabetes insipidus or optic atrophy; Wolfram-like syndrome, autosomal dominant, 614296; Deafness, autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness,autosomal dominant 6/14/38, 600965; Wolfram syndrome, 222300; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; ?Cataract 41,116400 to Wolfram-like syndrome, autosomal dominant, OMIM:614296; Wolfram syndrome 1, OMIM:222300; {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:29:06.210159Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nfailure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies;young onset diabetes, short stature and microcephaly with intellectual disability;Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability;Microcephaly, short stature, and impaired glucose metabolism 1, 616033",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:29:06.193251Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT10A were changed from failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:27:58.642938Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nPigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome;H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes);Histiocytosis-lymphadenopathy plus syndrome,602782",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:27:58.630343Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes); Histiocytosis-lymphadenopathy plus syndrome,602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:26:57.225878Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nNeonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome, 615710;recessive syndromic diabetes and autosomal dominant MODY",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:26:57.196068Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710; recessive syndromic diabetes and autosomal dominant MODY to Mitchell-Riley syndrome, OMIM:615710",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:25:52.832666Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R15B were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 to Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:24:51.862555Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nLipodystrophy, familial partial, type 3, 604367;FPLD3;{Diabetes, type 2}, 125853;[Obesity, resistance to];Obesity, severe, 601665;Lipodystrophy, familial partial, type 3;Insulin resistance, severe, digenic;Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;Insulin resistance, severe, digenic 604367;Insulin resistance, severe, digenic, 604367;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3;Lipodystrophy, familial partial, type 3 604367;Carotid intimal medial thickness 1, 609338",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:24:51.848781Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PPARG were changed from Lipodystrophy, familial partial, type 3, 604367; FPLD3; {Diabetes, type 2}, 125853; [Obesity, resistance to]; Obesity, severe, 601665; Lipodystrophy, familial partial, type 3; Insulin resistance, severe, digenic; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; Insulin resistance, severe, digenic, 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Lipodystrophy, familial partial, type 3 604367; Carotid intimal medial thickness 1, 609338 to Lipodystrophy, familial partial, type 3, OMIM:604367; Insulin resistance, severe, digenic, OMIM:604367; Obesity, severe, OMIM:601665; {Diabetes, type 2}, OMIM:125853",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:20:22.231662Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\npartial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes;Lipodystrophy, familial partial, type 4, 613877;Severe insulin resistance, partial lipodystrophy and diabetes",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:20:22.213880Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 4, OMIM:613877",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:19:14.129302Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nShort stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880;SHORT syndrome",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:19:14.111150Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome to SHORT syndrome, OMIM:269880",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:17:16.815277Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nPancreatic agenesis 1;MODY4;Maturity-Onset Diabetes Of The Young;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4;Permanent neonatal diabetes;Maturity-onset diabetes of the young (MODY);MODY type IV;Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:17:16.802022Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1; MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392 to Pancreatic agenesis 1, OMIM:260370; MODY, type IV, OMIM:606392",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:14:16.987394Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nHyperphenylalaninemia, BH4-deficient, D, OMIM:264070;Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:14:16.970154Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:13:44.504794Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:12:40.591496Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Also associated with aniridia",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:12:40.578775Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from diabetes mellitus (disease), MONDO:0005015 to diabetes mellitus (disease), MONDO:0005015",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:12:39.171231Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Also associated with aniridia",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:12:39.154253Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to diabetes mellitus (disease), MONDO:0005015",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:11:05.673969Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nMaturity-onset diabetes of the young 6, 606394;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6;{Diabetes mellitus, noninsulin-dependent}, 125853;Maturity-Onset Diabetes Of The Young;MODY6;Permanent neonatal diabetes and cerebellar agenesis;Maturity Onset Diabetes of the Young",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:11:05.660466Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NEUROD1 were changed from Maturity-onset diabetes of the young 6, 606394; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MODY6; Permanent neonatal diabetes and cerebellar agenesis; Maturity Onset Diabetes of the Young to Maturity-onset diabetes of the young 6, OMIM:606394; {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:01:15.432394Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nMIDD;DIABETES AND DEAFNESS, MATERNALLY INHERITED;Diabetes-Deafness Syndrome, Maternally Transmitted;MELAS syndrome;Maternally inherited diabetes",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2021-03-16T14:01:15.419238Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TL1 were changed from MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome; Maternally inherited diabetes to maternally-inherited diabetes and deafness, MONDO:0010785",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2021-03-16T13:26:00.993080Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nFPLD2;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2;Lipodystrophy, familial partial, 2, 151660;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Severe insulin resistance, partial lipodystrophy and diabetes",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-03-16T13:26:00.980162Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: LMNA were changed from FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 2, OMIM:151660; Severe insulin resistance, partial lipodystrophy and diabetes",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-03-16T13:21:00.853675Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ11 were changed from Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820; Maturity-onset diabetes of the young, type 13, OMIM:616329",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2021-03-16T13:19:43.493184Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nTransient Neonatal diabetes mellitus (Dominant);Transient Neonatal Diabetes, Dominant;Diabetes mellitus, transient neonatal, 3, 610582;Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive);Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582;Diabetes, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;Maturity Onset Diabetes of the Young;{Diabetes mellitus, type 2, susceptibility to}, 125853;Hyperinsulinemic hypoglycemia, familial, 2, 601820;Transient Neonatal, 3;Maturity Onset Diabetes of the Young (Dominant);Diabetes Mellitus, Permanent Neonatal;Diabetes mellitus, trans;Diabetes Mellitus, Transient Neonatal, 3",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2021-03-16T13:19:43.479147Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ11 were changed from Transient Neonatal diabetes mellitus (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Maturity Onset Diabetes of the Young; {Diabetes mellitus, type 2, susceptibility to}, 125853; Hyperinsulinemic hypoglycemia, familial, 2, 601820; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2021-03-16T13:08:16.563560Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nLeprechaunism, 246200;Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549;Rabson-Mendenhall syndrome, 262190;Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans;OMIM 610549;Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities;Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans;Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities;Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, 609968;DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2021-03-16T13:08:16.546316Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: INSR were changed from Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; OMIM 610549; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS to Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549; Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Leprechaunism, OMIM:246200; Rabson-Mendenhall syndrome, OMIM:262190",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2021-03-16T12:01:16.867704Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nMODY10;Maturity-onset diabetes of the young, type 10, 613370;Transient Neonatal Diabetes, Dominant/Recessive;Diabetes mellitus, permanent neonatal, 606176;Diabetes mellitus, insulin-dependent, 2, 125852;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10;Maturity Onset Diabetes of the Young;Permanent Neonatal diabetes mellitus;Hyperproinsulinemia, familial, with or without diabetes;Maturity Onset Diabetes of the Young (Dominant);Diabetes mellitus, type 1, 125852",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2021-03-16T12:01:16.843138Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: INS were changed from MODY10; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852 to Maturity-onset diabetes of the young, type 10, OMIM:613370; Diabetes mellitus, permanent neonatal 4, OMIM:618858; Diabetes mellitus, insulin-dependent, 2, OMIM:125852; Hyperproinsulinemia, OMIM:616214",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2021-03-16T11:54:30.611346Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HNF4A were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026 to {Diabetes mellitus, noninsulin-dependent}, OMIM:125853; MODY, type I , OMIM:125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2021-03-16T11:52:13.616386Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nTransient neonatal diabetes;Renal Cysts and Diabetes Syndrome;Diabetes mellitus, noninsulin-dependent, 125853;Maturity-Onset Diabetes Of The Young;RCAD;renal malformation;{Renal cell carcinoma}, 144700;Renal cysts and diabetes syndrome, 137920;RENAL CYSTS AND DIABETES SYNDROME",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-03-16T11:52:13.511413Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1B were changed from Transient neonatal diabetes; Renal Cysts and Diabetes Syndrome; Diabetes mellitus, noninsulin-dependent, 125853; Maturity-Onset Diabetes Of The Young; RCAD; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; RENAL CYSTS AND DIABETES SYNDROME to transient neonatal diabetes mellitus (disease), MONDO:0020525; Type 2 diabetes mellitus, OMIM:125853; maturity-onset diabetes of the young (disease), MONDO:0018911",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-03-15T16:55:56.068780Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\n\r\nTransient Neonatal Diabetes, Recessive;MODY2;Diabetes mellitus, permanent neonatal, 606176;Maturity-Onset Diabetes Of The Young;Hyperinsulinemic hypoglycemia, familial, 3, 602485;Diabetes mellitus, noninsulin-dependent, late onset, 125853;Permanent neonatal diabetes;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2;Permanent Neonatal Diabetes Mellitus (recessive);Maturity-onset diabetes of the young (MODY);Permanent Neonatal Diabetes Mellitus;Maturity Onset Diabetes of the Young (Dominant);Diabetes mellitus, gestational, 125851;MODY, type II, 125851;Maturity Onset Diabetes of the Young;Neonatal diabetes;Fasting hyperglycaemia",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2021-03-15T16:55:56.051110Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GCK were changed from Transient Neonatal Diabetes, Recessive; MODY2; Diabetes mellitus, permanent neonatal, 606176; Maturity-Onset Diabetes Of The Young; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young; Neonatal diabetes; Fasting hyperglycaemia to Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485; Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853; MODY, type II, OMIM:125851; Diabetes mellitus, permanent neonatal 1, OMIM:606176",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2021-03-15T16:03:46.753574Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Phenotypes were previous:\r\nHepatic adenoma, somatic, 142330;Maturity-Onset Diabetes Of The Young;{Diabetes mellitus, insulin-dependent}, 222100;Renal cell carcinoma, 144700;MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520;Diabetes mellitus, insulin-dependent, 20, 612520;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3;MODY3;Maturity-onset diabetes of the young (MODY);{Diabetes mellitus, noninsulin-dependent, 2}, 125853;MODY, type III, 600496;Maturity Onset Diabetes of the Young",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2021-03-15T16:03:46.736369Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1A were changed from Hepatic adenoma, somatic, 142330; Maturity-Onset Diabetes Of The Young; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700; MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; Diabetes mellitus, insulin-dependent, 20, 612520; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3; Maturity-onset diabetes of the young (MODY); {Diabetes mellitus, noninsulin-dependent, 2}, 125853; MODY, type III, 600496; Maturity Onset Diabetes of the Young to Diabetes mellitus, insulin-dependent, 20, OMIM:612520; {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853; MODY, type III, OMIM:600496",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2021-03-08T10:18:32.369393Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:56:25.007874Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nPancreatic agenesis and congenital heart defects;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:56:24.994198Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:54:58.693229Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nNeonatal diabetes;Pancreatic agenesis and/or congenital heart defects;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:54:58.675621Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GATA4 were changed from Neonatal diabetes; Pancreatic agenesis and/or congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to NEONATAL DIABETES MELLITUS, MONDO:0016391; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:51:49.773175Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nAbdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:51:49.759669Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DYRK1B were changed from Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to Abdominal obesity-metabolic syndrome 3, OMIM:615812",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:50:49.097915Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\n?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192;Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:50:49.079944Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC3 were changed from ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192; Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192; juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:48:24.312284Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nWoodhouse-Sakati syndrome, 241080;Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:48:24.298974Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080; Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness) to Woodhouse-Sakati syndrome, OMIM:241080",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:47:36.968341Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome 2, OMIM:604928",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:46:23.548153Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CEL were changed from Maturity-onset diabetes of the young, type VIII, 609812; Diabetes and pancreatic exocrine dysfunction to Maturity-onset diabetes of the young, type VIII, OMIM:609812; Diabetes and pancreatic exocrine dysfunction",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:45:08.226820Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: APPL1 were changed from {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes to {Maturity-onset diabetes of the young, type 14}, OMIM:616511",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:43:58.201159Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nDiabetes mellitus, permanent neonatal, 6;Transient Neonatal Diabetes, Dominant;transient neonatal diabetes (Dominant);Diabetes mellitus, noninsulin-dependent, 125853;DIABETES MELLITUS, NONINSULIN-DEPENDENT;Diabetes mellitus, transient neonatal 2, 610374;Hyperinsulinemic hypoglycemia, familial, 1, 256450;Hypoglycemia of infancy, leucine-sensitive, 240800;Permanent neonatal diabetes mellitus;Permanent Neonatal Diabetes Mellitus (recessive);Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6;Permanent Neonatal Diabetes Mellitus",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2021-03-03T15:43:58.184884Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC8 were changed from Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; transient neonatal diabetes (Dominant); Diabetes mellitus, noninsulin-dependent, 125853; DIABETES MELLITUS, NONINSULIN-DEPENDENT; Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent neonatal diabetes mellitus; Permanent Neonatal Diabetes Mellitus (recessive); Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6; Permanent Neonatal Diabetes Mellitus to Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant); Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, transient neonatal 2, OMIM:610374; Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive)",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2021-03-01T10:18:02.054234Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to Region: ISCA-37432-Loss.",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2021-02-26T15:05:36.913500Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: WRN.",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:05:30.423487Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: TFR2.",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:05:24.080262Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: STAT3.",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:05:17.316821Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: STAT1.",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:05:09.906900Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: SLC40A1.",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:05:02.538045Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: SLC2A2.",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:04:55.724126Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: SLC19A2.",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:04:49.739863Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: PTF1A.",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:04:43.462445Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: PSMB8.",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:04:37.756360Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: PPP1R3A.",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:04:31.508567Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: POC1A.",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:04:25.504362Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: PCYT1A.",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:04:19.767778Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: PCNT.",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:04:14.191611Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: PAX4.",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:04:06.363894Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: NSMCE2.",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:04:00.391816Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: NKX2-2.",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:03:54.486127Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: NEUROG3.",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:03:47.940214Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: MNX1.",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:03:41.571847Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: LRBA.",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:03:35.588144Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: LIPC.",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:03:27.910850Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: KLF11.",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:03:21.874051Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: IL2RA.",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:03:14.444464Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: IER3IP1.",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:03:07.730754Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: HFE2.",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:03:00.986800Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: HFE.",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:02:54.603815Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: HAMP.",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:02:48.487994Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: GLIS3.",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:02:41.811403Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: FOXP3.",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:02:34.429071Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: FOXC2.",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:02:28.056104Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: FGFR3.",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:02:14.993284Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: ENPP1.",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:02:08.764046Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: EIF2AK3.",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:02:02.451222Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: DMXL2.",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:01:56.536641Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: CAVIN1.",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:01:50.041552Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: BSCL2.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:01:43.232934Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: BLM.",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:01:36.637708Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: BLK.",
"entity_name": "BLK",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:01:30.065932Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: ALMS1.",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:01:20.395804Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: AGPAT2.",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2021-01-29T10:32:31.449177Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes to Diabetes mellitus, type II, OMIM:125853; Type 2 diabetes mellitus, MONDO:0005148",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2020-02-25T10:24:47.533824Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"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": "2019-07-31T13:16:51.472682Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"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": "2019-07-15T13:40:16.345399Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB20 were changed from Primrose syndrome to Primrose syndrome, 259050; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:39:43.038067Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT10A were changed from failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability to failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:38:59.088125Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome to Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes); Histiocytosis-lymphadenopathy plus syndrome,602782",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:38:03.458323Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome to Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710; recessive syndromic diabetes and autosomal dominant MODY",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:37:26.695993Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R15B were changed from to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:35:53.302804Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:35:19.406764Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877 to partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:35:04.368938Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome; SHORT syndrome to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:34:39.179927Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1; MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV to Pancreatic agenesis 1; MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:34:08.042988Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D to Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:33:44.919872Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from to Aniridia 106210; diabetes",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:33:00.951268Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TL1 were changed from MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome to MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome; Maternally inherited diabetes",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:32:32.607760Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: LMNA were changed from FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules to FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:31:34.606157Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HNF4A were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; OMIM 616026; Maturity Onset Diabetes of the Young to {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:29:27.387724Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HNF4A were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; OMIM 616026; #616026; Maturity Onset Diabetes of the Young to {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; OMIM 616026; Maturity Onset Diabetes of the Young",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:28:45.280719Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GCK were changed from Transient Neonatal Diabetes, Recessive; MODY2; Diabetes mellitus, permanent neonatal, 606176; Maturity-Onset Diabetes Of The Young; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young to Transient Neonatal Diabetes, Recessive; MODY2; Diabetes mellitus, permanent neonatal, 606176; Maturity-Onset Diabetes Of The Young; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young; Neonatal diabetes; Fasting hyperglycaemia",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:28:12.997907Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GATA6 were set to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; 22158542; 26210631; 22962692; 27098067; 25708516; Lango Allen et al 2011 Nat Genet 44, 20-22 De Franco et al 2013 Diabetes 62, 993-997; 25356219",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:26:28.354095Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS to Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:25:53.481515Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GATA4 were changed from Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects to Neonatal diabetes; Pancreatic agenesis and/or congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:25:18.647353Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC3 were changed from ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192; Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:25:00.246947Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CEL were changed from Maturity-onset diabetes of the young, type VIII, 609812 to Maturity-onset diabetes of the young, type VIII, 609812; Diabetes and pancreatic exocrine dysfunction",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:24:44.382558Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: APPL1 were changed from {Maturity-onset diabetes of the young, type 14}, 616511 to {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:24:34.554111Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080 to Woodhouse-Sakati syndrome, 241080; Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:23:45.699225Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853 to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:23:12.073183Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DYRK1B were changed from to Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:22:17.423676Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC3 were changed from to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:21:54.781186Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, 241080",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:20:55.058432Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: APPL1 were changed from to {Maturity-onset diabetes of the young, type 14}, 616511",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:20:22.017143Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II to Diabetes mellitus, type II, 125853",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-07-15T13:19:42.992073Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from to R141\nPanel types changed to GMS Rare Disease Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-05-01T09:45:26.488669Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: DCAF17 were set to 20507343; 19026396",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2019-05-01T09:45:06.283172Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CEL were set to 16369531",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2019-05-01T09:39:04.436556Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: INSR were set to PMID: 8288049",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-05-01T09:38:44.632044Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: HNF4A were set to ",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2019-03-01T14:14:21.462783Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PLIN1 were set to 21345103; 30020498",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2019-02-15T10:28:21.687918Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.1",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: ; Publications: 25017102, 22374165; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2019-02-15T10:28:21.673860Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.1",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21345103, 21345103, 21345103, 30020498, 11371650, 25695774; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2019-02-15T10:28:21.660412Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.1",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24848070, 24204001; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-02-15T10:28:21.646739Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.1",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: 24464444; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2019-02-15T10:28:21.631056Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.1",
"user_name": "Jayne Houghton",
"item_type": "entity",
"text": "reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: ; Publications: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 27650499, 25160620; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:46:27.695682Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "1.0",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-01-30T10:07:08.336896Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP1R15B was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:06:55.142621Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:06:43.471700Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYRK1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:06:31.227213Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJC3 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:06:17.903984Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: APPL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:41:26.494404Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PLIN1 as Green List (high evidence)",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:41:26.492158Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from amber to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:41:26.473896Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: plin1 has been classified as Green List (High Evidence).",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:41:11.039854Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PCBD1 as Green List (high evidence)",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:41:11.036896Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from amber to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:41:11.018852Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pcbd1 has been classified as Green List (High Evidence).",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:40:46.601085Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ZBTB20 as Green List (high evidence)",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:40:46.598225Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:40:46.586679Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: zbtb20 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:40:35.935406Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PPP1R15B as Green List (high evidence)",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:40:35.932967Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:40:35.915249Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Green List (High Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:40:09.953541Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PAX6 as Green List (high evidence)",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:40:09.950761Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:40:09.935841Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Green List (High Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:39:59.709301Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: DYRK1B as Green List (high evidence)",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:39:59.707009Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:39:59.693445Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: dyrk1b has been classified as Green List (High Evidence).",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:39:41.534430Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: DNAJC3 as Green List (high evidence)",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:39:41.531898Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:39:41.509866Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: dnajc3 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:39:27.073124Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: DCAF17 as Green List (high evidence)",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:39:27.069742Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:39:27.053075Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:37:47.745549Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CEL as Green List (high evidence)",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:37:47.742955Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:37:47.728486Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cel has been classified as Green List (High Evidence).",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:37:27.273081Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: APPL1 as Green List (high evidence)",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:37:27.268739Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:37:27.250034Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: appl1 has been classified as Green List (High Evidence).",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:36:35.100428Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: AKT2 as Green List (high evidence)",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:36:35.098070Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-28T09:36:35.075311Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.14",
"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": "2019-01-25T12:00:46.159700Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified Region: ISCA-37432-Loss as No list",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2019-01-25T12:00:46.152251Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Region: isca-37432-loss has been removed from the panel.",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2019-01-25T11:57:33.811011Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on Region: ISCA-37432-Loss",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2019-01-25T11:55:54.040823Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to WRN.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.966720Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to TFR2.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.895795Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to STAT3.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.829632Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to STAT1.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.756420Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to SLC40A1.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.679599Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to SLC2A2.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.607485Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to SLC19A2.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.534269Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to PTF1A.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.451244Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to PSMB8.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.374606Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to PPP1R3A.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.295977Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to POC1A.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.221781Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to PCYT1A.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.135519Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to PCNT.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:53.053901Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to PAX4.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.978436Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to NSMCE2.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.901067Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to NKX2-2.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.824430Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to NEUROG3.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.746577Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to MNX1.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.673895Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to LRBA.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.595908Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to LIPC.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.522179Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to KLF11.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.445270Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to IL2RA.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.367322Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to IER3IP1.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.277249Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to HFE2.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.188610Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to HFE.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.108217Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to HAMP.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:52.032029Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to GLIS3.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.956646Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to FOXP3.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.870127Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to FOXC2.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.790889Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to FGFR3.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.707904Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to EIF2AK3.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.629693Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to ENPP1.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.537854Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to DMXL2.\nRating Changed from Amber List (moderate evidence) to No List (delete)",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.454209Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to CAVIN1.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.374770Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to BSCL2.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.293328Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to BLM.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.211324Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to BLK.\nRating Changed from Red List (low evidence) to No List (delete)",
"entity_name": "BLK",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.123948Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to ALMS1.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:55:51.031168Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Removed was added to AGPAT2.\nRating Changed from Green List (high evidence) to No List (delete)",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.663656Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: WRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.648485Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.634580Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: STAT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.619586Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: STAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.602751Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.588532Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC2A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.574969Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC19A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.561042Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PTF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.547055Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PSMB8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.530955Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PPP1R3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.502051Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: POC1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.486698Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PCYT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.472734Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.459347Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.445475Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: NSMCE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.432061Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: NKX2-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.405177Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: NEUROG3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.391707Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MNX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.378689Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.363967Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LIPC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.350222Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KLF11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.336836Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: IL2RA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.322568Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: IER3IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.308865Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: HFE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.295696Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.282438Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.269770Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GLIS3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.256302Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: FOXP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.242614Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.229464Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.215712Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: EIF2AK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.203124Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ENPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.189291Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.175820Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CAVIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:49:09.161050Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:46:10.817112Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: BLM",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:45:50.909693Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: BLK",
"entity_name": "BLK",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:45:33.660513Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ALMS1",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2019-01-25T11:45:03.160191Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: AGPAT2",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2019-01-14T15:13:50.967899Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CISD2 were changed from 604928; Wolfram syndrome 2 to Wolfram syndrome 2604928",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.533154Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.517152Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.501438Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.479787Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"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": "2019-01-11T10:04:55.459136Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.442934Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.429815Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PPP1R15B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.414377Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PPARG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.400896Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.386680Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.372420Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.355211Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.335083Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.319498Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.303516Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.290291Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.276375Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.259853Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"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": "2019-01-11T10:04:55.242461Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"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": "2019-01-11T10:04:55.228135Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.214583Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"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": "2019-01-11T10:04:55.201008Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.185848Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"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": "2019-01-11T10:04:55.169850Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"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": "2019-01-11T10:04:55.152350Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.136607Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.119727Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DYRK1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.107135Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.090281Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.071198Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.056985Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.041088Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: APPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2019-01-11T10:04:55.026925Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"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": "2019-01-11T10:04:55.009927Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.8",
"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": "2019-01-11T09:39:08.570961Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ZFP57.",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:08.497747Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ZBTB20.",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:08.422613Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to WFS1.",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:08.344584Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TRMT10A.",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:08.270271Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC29A3.",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:08.196889Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RFX6.",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:08.145592Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PPP1R15B was added\ngene: PPP1R15B was added to Monogenic diabetes. Sources: NHS GMS\nMode of inheritance for gene: PPP1R15B was set to ",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:08.074667Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PPARG.",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.999986Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to POLD1.",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.930840Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PLIN1.",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.785379Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PIK3R1.",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.712959Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PDX1.",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.641030Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PCBD1.",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.584437Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PAX6 was added\ngene: PAX6 was added to Monogenic diabetes. Sources: NHS GMS\nMode of inheritance for gene: PAX6 was set to ",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.484706Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NEUROD1.",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.401990Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MT-TL1.",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.329989Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to LMNA.",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.255418Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to KCNJ11.",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.189950Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to INSR.",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.120486Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to INS.",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:07.055594Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HNF4A.",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.989528Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HNF1B.",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.920128Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HNF1A.",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.849305Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GCK.",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.778379Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GATA6.",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.697031Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GATA4.",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.636553Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DYRK1B was added\ngene: DYRK1B was added to Monogenic diabetes. Sources: NHS GMS\nMode of inheritance for gene: DYRK1B was set to ",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.583978Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DNAJC3 was added\ngene: DNAJC3 was added to Monogenic diabetes. Sources: NHS GMS\nMode of inheritance for gene: DNAJC3 was set to ",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.517879Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to DCAF17.",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.434988Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CISD2.",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.350824Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CEL.",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.277140Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: APPL1 was added\ngene: APPL1 was added to Monogenic diabetes. Sources: NHS GMS\nMode of inheritance for gene: APPL1 was set to ",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.202386Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to AKT2.",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2019-01-11T09:39:06.123979Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ABCC8.",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2018-12-20T17:45:55.549151Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PLIN1 were set to 21345103",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2018-12-20T17:45:46.713515Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: PLIN1 as Amber List (moderate evidence)",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2018-12-20T17:45:46.710052Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene was downgraded from Green to Amber due to the findings of PMID: 30020498 - variants in this gene predicted to cause haplosufficiency are not a cause of familial partial lipodystrophy.",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2018-12-20T17:45:46.686153Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: plin1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2018-12-19T10:49:20.715060Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: HFE2.",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2018-12-19T10:49:11.022928Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: HFE2",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.721784Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: NSMCE2 was added\ngene: NSMCE2 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSMCE2 were set to 25105364\nPhenotypes for gene: NSMCE2 were set to Dwarfism with extreme insulin resistance and acanthosis nigricans",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.657805Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes {Diabetes mellitus, type I, susceptibility to}, 222100; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; IPEX syndrome for gene: FOXP3",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.614479Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: FOXP3 was added\ngene: FOXP3 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.540844Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Neonatal diabetes and additional multi-organ autoimmunity for gene: STAT3\nPublications for gene STAT3 were changed from 27167055 to 27167055; Flanagan et al 2014 Nature Genetics (In press)",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.494815Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: STAT3 was added\ngene: STAT3 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT3 were set to 27167055\nMode of pathogenicity for gene: STAT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.450954Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: SLC40A1 was added\ngene: SLC40A1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.391215Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome for gene: POLD1\nPublications for gene POLD1 were changed from 25131834; 26172944; 23770608 to 23770608",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.333718Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 for gene: POLD1\nPublications for gene POLD1 were changed from 23770608 to 25131834; 26172944; 23770608",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.291463Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: POLD1 was added\ngene: POLD1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLD1 were set to 23770608\nPhenotypes for gene: POLD1 were set to multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome\nMode of pathogenicity for gene: POLD1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.235596Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes for gene: PLIN1",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.179462Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes for gene: PLIN1\nPublications for gene PLIN1 were changed from 21345103; 25114292 to 21345103",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.138383Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PLIN1 was added\ngene: PLIN1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLIN1 were set to 21345103; 25114292\nPhenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.080044Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:38.024308Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1\nPublications for gene PIK3R1 were changed from 23810379; 23810382; 23810378 to 23810378",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.917686Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules for gene: LMNA\nPublications for gene LMNA were changed from to 26775134; 24002959",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.877527Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LMNA were set to Lipodystrophy, familial partial, 2, 151660",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.820480Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Transient Neonatal diabetes mellitus (Dominant); Transient Neonatal, 3; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Maturity Onset Diabetes of the Young; Hyperinsulinemic hypoglycemia, familial, 2, 601820; {Diabetes mellitus, type 2, susceptibility to}, 125853; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes mellitus, transient neonatal, 3, 610582 for gene: KCNJ11",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.779121Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young\nMode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.722626Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes MODY, type I, 125850; OMIM 616026; Maturity Onset Diabetes of the Young for gene: HNF4A",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.682177Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: HNF4A was added\ngene: HNF4A was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF4A were set to {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; #616026; Maturity Onset Diabetes of the Young",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.628290Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Transient neonatal diabetes; Renal Cysts and Diabetes Syndrome; Diabetes mellitus, noninsulin-dependent, 125853; Maturity-Onset Diabetes Of The Young; RCAD; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; RENAL CYSTS AND DIABETES SYNDROME for gene: HNF1B",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.585858Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: HNF1B was added\ngene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, 137920",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.525476Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Hepatic adenoma, somatic, 142330; Maturity-Onset Diabetes Of The Young; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700; Diabetes mellitus, insulin-dependent, 20, 612520; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3; Maturity-onset diabetes of the young (MODY); {Diabetes mellitus, noninsulin-dependent, 2}, 125853; MODY, type III, 600496; Maturity Onset Diabetes of the Young for gene: HNF1A",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.484912Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: HNF1A was added\ngene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1A were set to MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; Maturity Onset Diabetes of the Young",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.417499Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Insulin resistance, severe, digenic; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Lipodystrophy, familial partial, type 3 for gene: PPARG",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.347698Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Insulin resistance, severe, digenic 604367; Lipodystrophy, familial partial, type 3 604367 for gene: PPARG",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.306263Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PPARG was added\ngene: PPARG was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPARG were set to Lipodystrophy, familial partial, type 3, 604367; FPLD3; {Diabetes, type 2}, 125853; Obesity, severe, 601665; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic, 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; [Obesity, resistance to]; Carotid intimal medial thickness 1, 609338",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.249061Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS for gene: GATA6\nPublications for gene GATA6 were changed from 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; PMID: 27098067; 22158542; 26210631; 22962692; 25708516; 25356219 to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; 22158542; 26210631; 22962692; 27098067; 25708516; Lango Allen et al 2011 Nat Genet 44, 20-22 De Franco et al 2013 Diabetes 62, 993-997; 25356219",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.209676Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: GATA6 was added\ngene: GATA6 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GATA6 were set to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; PMID: 27098067; 22158542; 26210631; 22962692; 25708516; 25356219",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.151644Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects for gene: GATA4\nPublications for gene GATA4 were changed from PMID: 24696446 to 24696446",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.107972Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: GATA4 was added\ngene: GATA4 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GATA4 were set to PMID: 24696446",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.050094Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome for gene: MT-TL1",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:37.010529Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: MT-TL1 was added\ngene: MT-TL1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-TL1 were set to MELAS syndrome",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.958633Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes diabetes insipidus or optic atrophy; Wolfram-like syndrome, autosomal dominant, 614296; Deafness, autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness,autosomal dominant 6/14/38, 600965; Wolfram syndrome, 222300; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; ?Cataract 41,116400 for gene: WFS1",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.918227Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: WFS1 was added\ngene: WFS1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: WFS1 were set to 27217304; 27185633\nPhenotypes for gene: WFS1 were set to Wolfram syndrome, 222300",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.850752Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young for gene: NEUROD1",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.802808Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: NEUROD1 was added\ngene: NEUROD1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NEUROD1 were set to 26773576; 10545951; 26669242; 20573748\nPhenotypes for gene: NEUROD1 were set to Maturity-onset diabetes of the young 6, 606394; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MODY6; Permanent neonatal diabetes and cerebellar agenesis; Maturity Onset Diabetes of the Young",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.748523Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Leprechaunism, 246200; Rabson-Mendenhall syndrome, 262190 for gene: INSR",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.694489Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans; OMIM 610549 for gene: INSR\nPublications for gene INSR were changed from 8288049 to PMID: 8288049",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.653171Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: INSR was added\ngene: INSR was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: INSR were set to 8288049\nPhenotypes for gene: INSR were set to Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; OMIM 610549; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.581180Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Transient Neonatal Diabetes, Dominant/Recessive; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); Maturity Onset Diabetes of the Young for gene: INS",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.540249Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: INS was added\ngene: INS was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: INS were set to MODY10; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, insulin-dependent, 2, 125852; Permanent Neonatal diabetes mellitus; Diabetes mellitus, type 1, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.469376Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; transient neonatal diabetes (Dominant); Diabetes mellitus, noninsulin-dependent, 125853; DIABETES MELLITUS, NONINSULIN-DEPENDENT; Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent neonatal diabetes mellitus; Permanent Neonatal Diabetes Mellitus for gene: ABCC8",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.428192Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ABCC8 was added\ngene: ABCC8 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; Permanent Neonatal Diabetes Mellitus; Permanent Neonatal Diabetes Mellitus (recessive)\nMode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.370090Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Transient Neonatal Diabetes, Recessive; MODY2; Maturity-Onset Diabetes Of The Young; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Maturity-onset diabetes of the young (MODY); Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young for gene: GCK",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.328066Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: GCK was added\ngene: GCK was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: GCK were set to Transient Neonatal Diabetes, Recessive; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Maturity Onset Diabetes of the Young",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.285686Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZMPSTE24 were set to 18435794; 16297189; 20034068; 12913070; 15317753\nPhenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.219043Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410 for gene: ZFP57",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.167727Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ZFP57 was added\ngene: ZFP57 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFP57 were set to Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.108682Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability for gene: TRMT10A",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.063939Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TRMT10A was added\ngene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRMT10A were set to 26297882; 24204302\nPhenotypes for gene: TRMT10A were set to failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:36.018273Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TFR2 was added\ngene: TFR2 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.958681Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome for gene: SLC2A2\nPublications for gene SLC2A2 were changed from 22831748; 23456528; 22660720 to 22831748; PMID: 23456528; 22660720",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.902678Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: SLC2A2 was added\ngene: SLC2A2 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC2A2 were set to 22831748; 23456528; 22660720\nPhenotypes for gene: SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome; Fanconi-Bickel syndrome, 227810",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.845575Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome for gene: SLC29A3",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.803793Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: SLC29A3 was added\ngene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC29A3 were set to 19336477\nPhenotypes for gene: SLC29A3 were set to Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.739167Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME for gene: SLC19A2\nPublications for gene SLC19A2 were changed from Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321; 26839896; 26549656 to 26549656; 26839896",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.691877Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: SLC19A2 was added\ngene: SLC19A2 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC19A2 were set to Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321; 26839896; 26549656\nPhenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.622611Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Mitchell-Riley syndrome for gene: RFX6\nPublications for gene RFX6 were changed from Spiegal et al 2011 AM J Med Genet 155:2821-2825; 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; Smith et al 2010 Nature 463:775-780; 27167055 to 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; 27167055",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.568933Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: RFX6 was added\ngene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFX6 were set to Spiegal et al 2011 AM J Med Genet 155:2821-2825; 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; Smith et al 2010 Nature 463:775-780; 27167055\nPhenotypes for gene: RFX6 were set to Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.510055Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 for gene: PTF1A",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.467691Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PTF1A was added\ngene: PTF1A was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTF1A were set to Permanent neonatal diabetes mellitus (PNDM); Permanent neonatal diabetes with cerebellar agenesis; Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.404936Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Pancreatic agenesis 1 for gene: PDX1",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.314956Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: NKX2-2 was added\ngene: NKX2-2 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NKX2-2 were set to 24411943",
"entity_name": "NKX2-2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.260225Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Permanent neonatal diabetes and enteric anendocrinosis for gene: NEUROG3\nPublications for gene NEUROG3 were changed from 26288179; 25650326 to 26288179; 25650326; Rubio-Cabezas et al 2011 Diabetes 60:1349-1353",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.220113Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: NEUROG3 was added\ngene: NEUROG3 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEUROG3 were set to 26288179; 25650326",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.165733Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene MNX1 were changed from 24411943; Flanagan et al 2014 Cell Metab 19:146-154; 23562494; 26534984 to 24411943; 23562494; 26534984",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.126594Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: MNX1 was added\ngene: MNX1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MNX1 were set to 24411943; Flanagan et al 2014 Cell Metab 19:146-154; 23562494; 26534984",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.068378Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity for gene: LRBA",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:35.025403Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: LRBA was added\ngene: LRBA was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRBA were set to 25468195; 25479458; 26745254; 26206937; 27057999\nPhenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.972624Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Microcephaly, epilepsy, and diabetes syndrome for gene: IER3IP1\nPublications for gene IER3IP1 were changed from 21835305, 22991235, 24138066 to 21835305; 24138066; 22991235",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.934536Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: HFE2 was added\ngene: HFE2 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.896395Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: HFE was added\ngene: HFE was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE were set to {Alzheimer disease, susceptibility to}, 104300; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria variegata, susceptibility to}, 176200; {Porphyria cutanea tarda, susceptibility to}, 176100",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.861594Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: HAMP was added\ngene: HAMP was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.812033Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Neonatal Diabetes mellitus with congenital hypothyroidism; Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3 for gene: GLIS3",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.772537Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: GLIS3 was added\ngene: GLIS3 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLIS3 were set to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.711549Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus for gene: EIF2AK3",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.673329Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: EIF2AK3 was added\ngene: EIF2AK3 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.634256Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CISD2 was added\ngene: CISD2 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CISD2 were set to 17846994; 25056293\nPhenotypes for gene: CISD2 were set to 604928; Wolfram syndrome 2",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.597486Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CAVIN1 was added\ngene: CAVIN1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAVIN1 were set to 19726876\nPhenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.549564Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Lipodystrophy, congenital generalized, type 2, 269700 for gene: BSCL2",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.492285Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Berardinelli-Seip congenital lipodystrophy for gene: BSCL2",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.444740Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: BSCL2 was added\ngene: BSCL2 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BSCL2 were set to 11479539\nPhenotypes for gene: BSCL2 were set to Berardinelli-Seip congenital lipodystrophy",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.396973Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Alstrom syndrome for gene: ALMS1",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.344365Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene AGPAT2 were changed from 11967537; 12765973 to PubMed PMID: 11967537, PubMed PMID: 12765973.",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.289866Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes lipodystrophy for gene: AGPAT2\nPublications for gene AGPAT2 were changed from to 11967537; 12765973",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.252168Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: AGPAT2 was added\ngene: AGPAT2 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, 608594",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.214054Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: LIPC was added\ngene: LIPC was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: LIPC was set to Unknown\nPhenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12], 612797; {Diabetes mellitus, noninsulin-dependent}, 125853",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.169691Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: FOXC2 was added\ngene: FOXC2 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: FOXC2 was set to Unknown\nPhenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400; Lymphedema-distichiasis syndrome, 153400",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.127012Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ENPP1 was added\ngene: ENPP1 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: ENPP1 was set to Unknown\nPhenotypes for gene: ENPP1 were set to Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:34.073514Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Mode of inheritance for gene ZBTB20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene ZBTB20 were changed from to 25017102; 20644156",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.982937Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: STAT1 was added\ngene: STAT1 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT1 were set to 23534974\nMode of pathogenicity for gene: STAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.939321Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: FGFR3 was added\ngene: FGFR3 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR3 were set to Hypochondroplasia, 146000; Crouzon syndrome with acanthosis nigricans, 612247",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.883915Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Maturity-onset diabetes of the young, type VIII, 609812 for gene: CEL\nPublications for gene CEL were changed from PMID: 16369531 to 16369531",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.826034Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CEL was added\ngene: CEL was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CEL were set to PMID: 16369531\nPhenotypes for gene: CEL were set to Maturity-onset diabetes of the young, type VIII, 609812",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.788017Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ZBTB20 was added\ngene: ZBTB20 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZBTB20 were set to Primrose syndrome",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.730695Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Maturity-onset diabetes of the young, type IX, 612225; Diabetes mellitus, ketosis-prone, 612227; Diabetes mellitus, type 2, 125853; Maturity Onset Diabetes of the Young for gene: PAX4",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.689542Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PAX4 was added\ngene: PAX4 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX4 were set to Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.638081Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Maturity-onset diabetes of the young, type VII, 610508; Maturity Onset Diabetes of the Young for gene: KLF11",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.596098Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: KLF11 was added\ngene: KLF11 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: KLF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KLF11 were set to Maturity-onset diabetes of the young, type VII, 610508; Maturity Onset Diabetes of the Young",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.541535Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young for gene: BLK",
"entity_name": "BLK",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.500793Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: BLK was added\ngene: BLK was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BLK were set to Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young",
"entity_name": "BLK",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.460947Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PSMB8 was added\ngene: PSMB8 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.323660Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: IL2RA was added\ngene: IL2RA was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL2RA were set to 17196245",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.282310Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: IER3IP1 was added\ngene: IER3IP1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IER3IP1 were set to 21835305, 22991235, 24138066\nPhenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; Microcephaly, epilepsy and diabetes syndrome",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.198054Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF17 were set to 20507343; 19026396",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.163204Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: AGPS was added\ngene: AGPS was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGPS were set to Lipodystrophy, congenital generalized, type 1, 608594",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.127749Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: DMXL2 was added\ngene: DMXL2 was added to Monogenic diabetes. Sources: Expert Review Amber\nMode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DMXL2 were set to 22875945; 27657680; 25248098\nPhenotypes for gene: DMXL2 were set to ORPHA90636; OMIM:612186; Sensorineural Hearing Loss",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:33.056478Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Region: ISCA-37432-Loss was added\nRegion: ISCA-37432-Loss was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37432-Loss were set to 614527; utero-vaginal atresia; RCAD syndrome; Schizophrenia; Chromosome 17q12 deletion syndrome; delayed development, intellectual disability; global developmental delay; Autism Spectrum Disorder; Renal cysts and diabetes syndrome; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2018-12-18T13:11:33.021546Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PDX1 was added\ngene: PDX1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDX1 were set to MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.984585Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PIK3R1 was added\ngene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3R1 were set to 23810379; 23810382; 23810378\nPhenotypes for gene: PIK3R1 were set to SHORT syndrome\nMode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.948604Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: WRN was added\ngene: WRN was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WRN were set to 8602509\nPhenotypes for gene: WRN were set to Werner syndrome",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.910705Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PCYT1A was added\ngene: PCYT1A was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT1A were set to 24889630\nPhenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.874741Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PCNT was added\ngene: PCNT was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCNT were set to 21270239\nPhenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.838124Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLM were set to Bloom syndrome",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.796976Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.756690Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PCBD1 was added\ngene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Amber\nMode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCBD1 were set to 24204001; 24848070\nPhenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.722157Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CAV1 was added\ngene: CAV1 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: CAV1 was set to Unknown\nPublications for gene: CAV1 were set to 18211975\nPhenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.670843Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PPP1R3A was added\ngene: PPP1R3A was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: PPP1R3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PPP1R3A were set to Insulin resistance, severe, digenic",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.632606Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: AKT2 was added\ngene: AKT2 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT2 were set to 17576055; 17327441; 15166380\nPhenotypes for gene: AKT2 were set to Diabetes mellitus, type II",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.593547Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: POC1A was added\ngene: POC1A was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC1A were set to 26336158\nPhenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2018-12-18T13:11:32.549862Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CIDEC was added\ngene: CIDEC was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CIDEC were set to 20049731\nPhenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2018-11-06T12:35:07.295517Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Monogenic diabetes\nSet panel types to: GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
}
]