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"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=464",
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"results": [
{
"created": "2024-04-30T09:58:21.508904+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC8 were changed from DIABETES MELLITUS, NONINSULIN-DEPENDENT; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6 to permanent neonatal diabetes mellitus MONDO:0100164; transient neonatal diabetes mellitus MONDO:0020525",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2024-04-30T09:58:03.646882+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCC8 were set to ",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2024-04-30T09:47:13.050302+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLG were set to ",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2024-04-30T09:46:50.038052+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2024-04-30T09:46:16.656797+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLG as Amber List (moderate evidence)",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2024-04-30T09:46:16.642450+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plg has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2024-04-30T09:45:44.545103+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 35244080, 27976734; Phenotypes: Dysplasminogenemia 217090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2024-04-30T09:43:27.078350+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.50",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 21054355, 32027066, 32376986); Phenotypes: permanent neonatal diabetes mellitus MONDO:0100164, transient neonatal diabetes mellitus MONDO:0020525; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2024-04-30T09:18:58.925242+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.38",
"user_name": "Jane Lin",
"item_type": "entity",
"text": "gene: PLG was added\ngene: PLG was added to Bleeding and Platelet Disorders. Sources: Expert Review\nMode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLG were set to Plasminogen deficiency, type I; Dysplasminogenemia; MIM#217090\ngene: PLG was marked as current diagnostic\nAdded comment: Included in Genomics England PanelApp \"Thrombophilia with a likely monogenic cause\" panel. Adding to this panel as this gene has a gene-disease association with thrombophilia. \nSources: Expert Review",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2024-04-30T08:44:11.655905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1738",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC4A7 as Amber List (moderate evidence)",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T08:44:11.645408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1738",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc4a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T08:44:11.105111+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.141",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC4A7 as Amber List (moderate evidence)",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T08:44:11.084175+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.141",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc4a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T08:43:24.309271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1737",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SLC4A7 was added\ngene: SLC4A7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC4A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A7 were set to PMID: 35486108, 32594822\nPhenotypes for gene: SLC4A7 were set to Retinitis pigmentosa, MONDO:0019200\nReview for gene: SLC4A7 was set to AMBER\nAdded comment: Total 4 individuals from 3 families (2 known to be from same ethnic origin: Oriental-Jewish) with adult onset retinitis pigmentosa. All individuals had same homozygous frameshift variant in SLC4A7 gene (p.P670Sfs*6). RNA seq analysis revealed retinal expression in human and mouse samples. Immunohistochemistry of human and mouse retina revealed relatively strong expression in various retinal layers. Western blot analysis in fibroblasts from 1 patient showed absence of encoded protein. \nSources: Literature",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T08:43:18.376524+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.140",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SLC4A7 was added\ngene: SLC4A7 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: SLC4A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A7 were set to PMID: 35486108, 32594822\nPhenotypes for gene: SLC4A7 were set to Retinitis pigmentosa, MONDO:0019200\nReview for gene: SLC4A7 was set to AMBER\nAdded comment: Total 4 individuals from 3 families (2 known to be from same ethnic origin: Oriental-Jewish) with adult onset retinitis pigmentosa. All individuals had same homozygous frameshift variant in SLC4A7 gene (p.P670Sfs*6). RNA seq analysis revealed retinal expression in human and mouse samples. Immunohistochemistry of human and mouse retina revealed relatively strong expression in various retinal layers. Western blot analysis in fibroblasts from 1 patient showed absence of encoded protein. \nSources: Literature",
"entity_name": "SLC4A7",
"entity_type": "gene"
},
{
"created": "2024-04-30T08:18:51.370236+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.38",
"user_name": "Jane Lin",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombosis, HOMOCYSTINURIA, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-04-30T08:08:01.635054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1736",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SLC39A12 was added\ngene: SLC39A12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC39A12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A12 were set to PMID: 35486108\nPhenotypes for gene: SLC39A12 were set to Retinitis pigmentosa, MONDO:0019200\nReview for gene: SLC39A12 was set to RED\nAdded comment: WES (with targeted analysis of SLC genes) in 913 cases from 785 families with inherited retinal dystrophy. They identified 1 homozygous variant in SLC39A12 in 1 individual with adult-onset mild widespread retinal degeneration with marked macular involvement. No functional data. RNA seq analysis revealed retinal expression in human samples. Immunohistochemistry of human and mouse retina revealed comprehensive expression in various retinal cells including retinal pigment epithelium. \nSources: Literature",
"entity_name": "SLC39A12",
"entity_type": "gene"
},
{
"created": "2024-04-30T08:07:39.145365+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.139",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SLC39A12 was added\ngene: SLC39A12 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: SLC39A12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A12 were set to PMID: 35486108\nPhenotypes for gene: SLC39A12 were set to Retinitis pigmentosa, MONDO:0019200\nReview for gene: SLC39A12 was set to RED\nAdded comment: WES (with targeted analysis of SLC genes) in 913 cases from 785 families with inherited retinal dystrophy. They identified 1 homozygous variant in SLC39A12 in 1 individual with adult-onset mild widespread retinal degeneration with marked macular involvement. No functional data. RNA seq analysis revealed retinal expression in human samples. Immunohistochemistry of human and mouse retina revealed comprehensive expression in various retinal cells including retinal pigment epithelium. \nSources: Literature",
"entity_name": "SLC39A12",
"entity_type": "gene"
},
{
"created": "2024-04-30T07:58:37.157358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1735",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PQLC2 as Green List (high evidence)",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T07:58:37.141706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1735",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pqlc2 has been classified as Green List (High Evidence).",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T07:58:23.318221+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.138",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PQLC2 as Green List (high evidence)",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T07:58:23.306389+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.138",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pqlc2 has been classified as Green List (High Evidence).",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T07:58:11.966046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1734",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PQLC2 was added\ngene: PQLC2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PQLC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PQLC2 were set to PMID: 35486108; and online publication GiM Feb 2024\nPhenotypes for gene: PQLC2 were set to Retinitis pigmentosa, MONDO:0019200\nReview for gene: PQLC2 was set to GREEN\ngene: PQLC2 was marked as current diagnostic\nAdded comment: HGNC Gene Symbol: SLC66A1\r\nTotal 8 individuals from 6 families.\r\n\r\nMillo et al. (2022)(PMID: 35486108) - \r\nWES (with targeted analysis of SLC genes) in 913 cases from 785 families with inherited retinal dystrophy. They identified 2 different homozygous variants in SLC66A1 in 3 individuals from 2 families with adult-onset retinal dystrophy. No functional data.\r\n\r\n\r\nOlinger et al. (2024)(https://www.sciencedirect.com/science/article/pii/S2949774424009804) -\r\nCNV analysis of trio and non-trio WGS data from Genomics England 100K genomes project. They identified homozygous 21kb deletion spanning nearly entire SLC66A1 gene in 2 siblings with adult-onset rod-cone dystrophy (parents HTZ carriers). Review of cohort data then identified homozygous LOF variants (1 nonsense, 2 frameshift) in another 3 individuals with rod-cone dystrophy. \nSources: Literature",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T07:58:05.807985+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.137",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PQLC2 was added\ngene: PQLC2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: PQLC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PQLC2 were set to PMID: 35486108; and online publication GiM Feb 2024\nPhenotypes for gene: PQLC2 were set to Retinitis pigmentosa, MONDO:0019200\nReview for gene: PQLC2 was set to GREEN\ngene: PQLC2 was marked as current diagnostic\nAdded comment: HGNC Gene Symbol: SLC66A1\r\nTotal 8 individuals from 6 families.\r\n\r\nMillo et al. (2022)(PMID: 35486108) - \r\nWES (with targeted analysis of SLC genes) in 913 cases from 785 families with inherited retinal dystrophy. They identified 2 different homozygous variants in SLC66A1 in 3 individuals from 2 families with adult-onset retinal dystrophy. No functional data.\r\n\r\n\r\nOlinger et al. (2024)(https://www.sciencedirect.com/science/article/pii/S2949774424009804) -\r\nCNV analysis of trio and non-trio WGS data from Genomics England 100K genomes project. They identified homozygous 21kb deletion spanning nearly entire SLC66A1 gene in 2 siblings with adult-onset rod-cone dystrophy (parents HTZ carriers). Review of cohort data then identified homozygous LOF variants (1 nonsense, 2 frameshift) in another 3 individuals with rod-cone dystrophy. \nSources: Literature",
"entity_name": "PQLC2",
"entity_type": "gene"
},
{
"created": "2024-04-30T07:29:49.870823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1733",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SUPT7L was added\ngene: SUPT7L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SUPT7L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUPT7L were set to PMID: 38592547\nPhenotypes for gene: SUPT7L were set to Lipodystrophy, MONDO:0006573\nReview for gene: SUPT7L was set to RED\nAdded comment: 1 case with generalised lipodystrophy, growth retardation, congenital cataracts, severe developmental delay and progeriod features. Trio WGS identified compound heterozygous variants in SUPT7L (missense causing abnormal splicing + frameshift). Variants validated with Sanger. SUPT7L encodes a component of the core structural module of the STAGA complex - a nuclear multifunctional protein complex that plays a role in various cellular processes (e.g. transcription factor binding, protein acetylation, splicing, and DNA damage control). Immunolabelling in fibroblasts from patient showed complete absence of SUPT7L protein. Transcriptome data from individual revealed downregulation of several gene sets associated with DNA replication, DNA repair, cell cycle, and transcription. \nSources: Literature",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2024-04-30T07:28:44.011918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1732",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PRMT9 was added\ngene: PRMT9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRMT9 were set to PMID: 38561334\nPhenotypes for gene: PRMT9 were set to Neurodevelopmental disorder, MONDO:0100500\nReview for gene: PRMT9 was set to RED\nAdded comment: A homozygous variant (G189R) in PRMT9 is reported based on large WGS study in 136 consanguineous families - unclear if only found in 1 family and no clinical information on case(s).\r\n\r\nPMRTs (protein arginine methyltransferases) catalyse post translational modification via arginine methylation. Functional studies showed that the G189R variant abolishes PRMT9's methyltransferase activity - specifically at the R508 residue of SF3B2 RNA (exclusively methylated by PRMT9) - and leads to heavy PRMT9 ubiquitination, and abnormal splicing activity of SF3B2. Knock out mouse model showed PRMT9 loss in excitatory neurons leads to aberrant synapse development and impaired learning and memory. \nSources: Literature",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2024-04-30T07:26:31.199195+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SUPT7L was added\ngene: SUPT7L was added to Lipodystrophy_Lipoatrophy. Sources: Literature\nMode of inheritance for gene: SUPT7L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUPT7L were set to PMID: 38592547\nPhenotypes for gene: SUPT7L were set to lipodystrophy, MONDO:0006573\nReview for gene: SUPT7L was set to RED\nAdded comment: 1 case with generalised lipodystrophy, growth retardation, congenital cataracts, severe developmental delay and progeriod features. Trio WGS identified compound heterozygous variants in SUPT7L (missense causing abnormal splicing + frameshift). Variants validated with Sanger. SUPT7L encodes a component of the core structural module of the STAGA complex - a nuclear multifunctional protein complex that plays a role in various cellular processes (e.g. transcription factor binding, protein acetylation, splicing, and DNA damage control). Immunolabelling in fibroblasts from patient showed complete absence of SUPT7L protein. Transcriptome data from individual revealed downregulation of several gene sets associated with DNA replication, DNA repair, cell cycle, and transcription. \nSources: Literature",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2024-04-30T07:13:04.621690+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5786",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PRMT9 was added\ngene: PRMT9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRMT9 were set to PMID: 38561334\nPhenotypes for gene: PRMT9 were set to Neurodevelopmental disorder, MONDO:0100500\nReview for gene: PRMT9 was set to RED\nAdded comment: A homozygous variant (G189R) in PRMT9 is reported based on large WGS study in 136 consanguineous families - unclear if only found in 1 family and no clinical information on case(s).\r\n\r\nPMRTs (protein arginine methyltransferases) catalyse post translational modification via arginine methylation. Functional studies showed that the G189R variant abolishes PRMT9's methyltransferase activity - specifically at the R508 residue of SF3B2 RNA (exclusively methylated by PRMT9) - and leads to heavy PRMT9 ubiquitination, and abnormal splicing activity of SF3B2. Knock out mouse model showed PRMT9 loss in excitatory neurons leads to aberrant synapse development and impaired learning and memory. \nSources: Literature",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2024-04-29T22:00:32.301405+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.113",
"user_name": "Tashunka Taylor-Miller",
"item_type": "entity",
"text": "reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 36833249; Phenotypes: Osteopenia HP:0000938, Platyspondyly HP:0000926, MONDO:0012581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:50:30.226821+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAK1 as ready",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:50:30.213097+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jak1 has been classified as Green List (High Evidence).",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:50:25.812439+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAK1 as Green List (high evidence)",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:50:25.793749+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jak1 has been classified as Green List (High Evidence).",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:49:38.697470+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAK1 was added\ngene: JAK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAK1 were set to 38563820; 28111307\nPhenotypes for gene: JAK1 were set to Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999\nReview for gene: JAK1 was set to GREEN\nAdded comment: PMID 38563820: 59 individuals presenting with autoimmunity, atopy, colitis, and/or dermatitis and one of four JAK1 variants. \nSources: Literature",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:47:09.099858+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAK1 as Green List (high evidence)",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:47:09.086482+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jak1 has been classified as Green List (High Evidence).",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:46:35.894460+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JAK1: Added comment: PMID 38563820: 59 individuals presenting with autoimmunity, atopy, colitis, and/or dermatitis and one of four JAK1 variants.; Changed rating: GREEN; Changed phenotypes: Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999, Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:45:44.827722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JAK1 were changed from Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Susceptibility to mycobacteria and viruses to Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999; Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Susceptibility to mycobacteria and viruses",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:44:58.445419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JAK1 were set to 28111307; 28008925; 30671064",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:44:35.048456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAK1 as Green List (high evidence)",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:44:35.037996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jak1 has been classified as Green List (High Evidence).",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:44:16.883512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JAK1: Added comment: PMID 38563820: 59 individuals presenting with autoimmunity, atopy, colitis, and/or dermatitis and one of four JAK1 variants.; Changed rating: GREEN; Changed publications: 28111307, 28008925, 30671064, 38563820; Changed phenotypes: Autoinflammatory syndrome, MONDO:0019751, JAK1-related, Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Susceptibility to mycobacteria and viruses, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:35:27.277749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRPK3 as ready",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:35:27.260105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srpk3 has been classified as Green List (High Evidence).",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:35:10.916807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRPK3 as Green List (high evidence)",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:35:10.897950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srpk3 has been classified as Green List (High Evidence).",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:34:52.306999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRPK3 was added\ngene: SRPK3 was added to Mendeliome. Sources: Literature\ndigenic tags were added to gene: SRPK3.\nMode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SRPK3 were set to 38429495\nPhenotypes for gene: SRPK3 were set to Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related\nReview for gene: SRPK3 was set to GREEN\nAdded comment: 33 individuals reported with SRPK3 variants but myopathy only occurred when TTN variant also present (most truncating). Zebrafish model supports digenic model of inheritance. \nSources: Literature",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:34:36.277737+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRPK3 as ready",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:34:36.251546+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srpk3 has been classified as Green List (High Evidence).",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:33:53.969641+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRPK3 as Green List (high evidence)",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:33:53.957783+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srpk3 has been classified as Green List (High Evidence).",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:33:20.212178+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag digenic tag was added to gene: SRPK3.",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:32:59.652777+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRPK3 was added\ngene: SRPK3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SRPK3 were set to 38429495\nPhenotypes for gene: SRPK3 were set to Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related\nReview for gene: SRPK3 was set to GREEN\nAdded comment: 33 individuals reported with SRPK3 variants but myopathy only occurred when TTN variant also present (most truncating). Zebrafish model supports digenic model of inheritance. \nSources: Literature",
"entity_name": "SRPK3",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:26:51.306197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTULIN were set to 27523608; 27559085; 35587511",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:26:30.085783+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTULIN: Added comment: Three individuals reported with de novo missense variants and auto inflammatory syndrome. Two had at the same variant, p.Cys129Ser. Experimental data supports dominant negative mechanism. Fourth individual with heterozygous variant in PMID 38129331 and severe fasciitis.; Changed publications: 27523608, 27559085, 35587511, 38630025, 38652464, 38129331",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:24:39.688694+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTULIN were set to 27523608; 27559085",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:24:07.779924+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTULIN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-04-29T17:23:29.307216+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTULIN: Added comment: Three individuals reported with de novo missense variants and auto inflammatory syndrome. Two had at the same variant, p.Cys129Ser. Experimental data supports dominant negative mechanism. Fourth individual with heterozygous variant in PMID 38129331 and severe fasciitis.; Changed publications: 27523608, 27559085, 38630025, 38652464, 38129331; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:26:54.047677+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFI as ready",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:26:54.029360+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfi has been classified as Green List (High Evidence).",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:26:48.750008+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFI as Green List (high evidence)",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:26:48.736259+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfi has been classified as Green List (High Evidence).",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:26:18.067924+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFI was added\ngene: CFI was added to Bleeding and Platelet Disorders. Sources: Expert Review\nMode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFI were set to {Haemolytic uremic syndrome, atypical, susceptibility to, 3}, MIM#\t612923\nReview for gene: CFI was set to GREEN\nAdded comment: Thrombotic microangiopathy is part of the phenotype. Note this is a susceptibility locus. \nSources: Expert Review",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:24:40.884528+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFB as ready",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:24:40.872981+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfb has been classified as Green List (High Evidence).",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:24:36.881917+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFB as Green List (high evidence)",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:24:36.860289+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfb has been classified as Green List (High Evidence).",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:23:59.634410+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFB was added\ngene: CFB was added to Bleeding and Platelet Disorders. Sources: Expert Review\nMode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFB were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM#\t612924\nReview for gene: CFB was set to GREEN\nAdded comment: Thrombotic microangiopathy is part of the phenotype. Note this is a susceptibility locus. \nSources: Expert Review",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:18:31.119382+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C3 as ready",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:18:31.108042+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c3 has been classified as Green List (High Evidence).",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:18:26.982123+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C3 as Green List (high evidence)",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:18:26.967031+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c3 has been classified as Green List (High Evidence).",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2024-04-29T16:17:55.990617+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C3 was added\ngene: C3 was added to Bleeding and Platelet Disorders. Sources: Expert Review\nMode of inheritance for gene: C3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: C3 were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM#\t612925\nReview for gene: C3 was set to GREEN\nAdded comment: Thrombotic microangiopathy is part of the clinical presentation. Note this is a susceptibility locus. \nSources: Expert Review",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:50:00.862502+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG7 as ready",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:50:00.845178+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg7 has been classified as Green List (High Evidence).",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:49:56.972751+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant optic atrophy, MONDO:0020250",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:49:24.639818+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPG7 were set to 9635427; 9635427; 16534102; 18799786; 22571692; 34500365; 33598982; 32548275; 24727571",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:47:40.517148+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPG7 were set to ",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:46:55.315241+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:46:10.678474+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPG7: Added comment: Please note PEO can be a feature +/- multiple mito deletions in skeletal muscle. PMID 24727571; Changed publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982, 32548275, 24727571",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:25:32.648178+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHARPIN were changed from Autoinflammatory syndrome, MONDO:0019751, SHARPIN-related to Autoinflammation with episodic fever and immune dysregulation, MIM# 620795",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:24:48.846092+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHARPIN: Changed phenotypes: Autoinflammation with episodic fever and immune dysregulation, MIM# 620795",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:24:29.230208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHARPIN were changed from Autoinflammatory syndrome, MONDO:0019751, SHARPIN-related to Autoinflammation with episodic fever and immune dysregulation, MIM# 620795",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:24:04.153588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHARPIN: Changed phenotypes: Autoinflammation with episodic fever and immune dysregulation, MIM# 620795",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:22:24.632019+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD7A were changed from Intellectual disability; Epilepsy to Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:21:36.527997+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTUD7A: Changed phenotypes: Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:21:04.789327+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD7A were changed from Intellectual disability; Epilepsy to Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:20:16.156019+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTUD7A: Changed phenotypes: Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:19:57.935033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD7A were changed from Intellectual disability; Epilepsy to Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2024-04-29T13:19:32.758226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTUD7A: Changed phenotypes: Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:09:46.937639+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYPN as ready",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:09:46.924498+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mypn has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:09:42.623685+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYPN were changed from Cardiomyopathy, dilated, 1KK, MIM# 615248; Cardiomyopathy, hypertrophic, 22, MIM# 615248 to Congenital myopathy 24, MIM# 617336; Cardiomyopathy, dilated, 1KK, MIM# 615248; Cardiomyopathy, hypertrophic, 22, MIM# 615248",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:09:30.935938+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYPN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:09:24.138069+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYPN as Amber List (moderate evidence)",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:09:24.125841+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mypn has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:09:14.722883+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYPN: Added comment: However, note that the AR skeletal myopathy condition has some reports of HCM in association.; Changed rating: AMBER; Changed phenotypes: Congenital myopathy 24, MIM# 617336, Cardiomyopathy, dilated, 1KK, MIM# 615248, Cardiomyopathy, hypertrophic, 22, MIM# 615248; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:06:05.997330+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYPN were changed from Cardiomyopathy, dilated, 1KK; Cardiomypathy, familial hypertrophic, 22, to Cardiomyopathy, dilated, 1KK, MIM# 615248; Cardiomyopathy, hypertrophic, 22, MIM# 615248",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:05:21.824544+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYPN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:05:11.650130+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYPN as Red List (low evidence)",
"entity_name": "MYPN",
"entity_type": "gene"
}
]
}