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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=719",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=717",
"results": [
{
"created": "2022-10-10T11:27:05.874035+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: megaloblastic anaemia, sensorimotor neuropathy, failure to thrive, cognitive impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2022-10-10T11:20:32.398932+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2022-10-10T11:13:09.026088+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi tubulopathy, photophobia, chronic renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-10-10T10:54:35.048071+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperammonaemia and subsequent recurrent episodes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-10-10T10:51:13.357841+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2022-10-09T19:33:33.716209+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPH5 as ready",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T19:33:33.707895+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph5 has been classified as Green List (High Evidence).",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T17:32:58.748062+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VPS33A as Green List (high evidence)",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2022-10-09T17:32:58.737500+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps33a has been classified as Green List (High Evidence).",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2022-10-09T17:32:00.690523+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28013294, 27547915, 31936524, 36153662; Phenotypes: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2022-10-09T17:27:49.920936+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.387",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: VPS33A were set to 28013294; 27547915",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2022-10-09T17:25:21.099859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.386",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VPS33A as Green List (high evidence)",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2022-10-09T17:25:21.084801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.386",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps33a has been classified as Green List (High Evidence).",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2022-10-09T17:19:44.898330+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.385",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 28013294 - 13 cases homozygous for VPS33A c.1492C>T p.(Arg498Trp) from non-consanguineous Yakuti families with a Mucopolysaccharidoses-like disease (coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, intellectual disability, and excess secretion of urinary glycosaminoglycans). Lysosomal over-acidification and heparan sulphate accumulation were detected in patient-derived and VPS33A-depleted HeLa cells.\r\nPMID: 27547915 - 2 affected siblings homozygous for VPS33A p.(Arg498Trp) from a consanguineous Turkish family\r\nPMID: 31936524 - 1 homozygous case from a non-consanguineous Yakuti family\r\nPMID: 36153662 - an attenuated juvenile case with a new homozygous missense variant VPS33A c.599G>C p.(Arg200Pro). Urinary glycosaminoglycan analysis revealed increased heparan, dermatan sulphates, and hyaluronic acid and decreased abundance of VPS33A in patient-derived fibroblasts; to: Now two missense variants reported with disease in at least 15 probands/families\r\nPMID: 28013294 - 13 cases homozygous for VPS33A c.1492C>T p.(Arg498Trp) from non-consanguineous Yakuti families with a Mucopolysaccharidoses-like disease (coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, intellectual disability, and excess secretion of urinary glycosaminoglycans). Lysosomal over-acidification and heparan sulphate accumulation were detected in patient-derived and VPS33A-depleted HeLa cells.\r\nPMID: 27547915 - 2 affected siblings homozygous for VPS33A p.(Arg498Trp) from a consanguineous Turkish family\r\nPMID: 31936524 - 1 homozygous case from a non-consanguineous Yakuti family\r\nPMID: 36153662 - an attenuated juvenile case with a new homozygous missense variant VPS33A c.599G>C p.(Arg200Pro). Urinary glycosaminoglycan analysis revealed increased heparan, dermatan sulphates, and hyaluronic acid and decreased abundance of VPS33A in patient-derived fibroblasts",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2022-10-09T16:35:06.665240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPH5 as ready",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T16:35:06.657345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph5 has been classified as Green List (High Evidence).",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T16:34:48.523411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPH5 as Green List (high evidence)",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T16:34:48.514335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph5 has been classified as Green List (High Evidence).",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T16:34:31.858315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPH5 was added\ngene: DPH5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPH5 were set to 35482014\nPhenotypes for gene: DPH5 were set to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, MIM# 620070\nReview for gene: DPH5 was set to GREEN\nAdded comment: 5 individuals from 3 unrelated families reported with severe ID, feeding difficulties, dysmorphic features and congenital anomalies, though there was no consistent pattern to these. \nSources: Literature",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T16:33:54.266239+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPH5: Changed publications: 35482014",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T16:32:53.243747+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPH5 as Green List (high evidence)",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T16:32:53.236345+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph5 has been classified as Green List (High Evidence).",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T16:32:07.564383+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPH5 was added\ngene: DPH5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPH5 were set to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties\t620070\nReview for gene: DPH5 was set to GREEN\nAdded comment: 5 individuals from 3 unrelated families reported with severe ID, feeding difficulties, dysmorphic features and congenital anomalies, though there was no consistent pattern to these. \nSources: Literature",
"entity_name": "DPH5",
"entity_type": "gene"
},
{
"created": "2022-10-09T16:27:00.918932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.383",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28013294, 27547915, 31936524, 36153662; Phenotypes: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:48:21.309341+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:47:56.953845+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC12A6: Changed phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MM# 218000, Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:47:23.064651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Intermediate CMT to Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:47:01.909584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC12A6: Changed phenotypes: Andermann syndrome, Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800, Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:46:09.679992+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:45:36.533441+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADGRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:45:03.446650+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADGRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:44:43.862053+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:44:10.014534+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADGRL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:43:37.814247+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:42:41.376677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADGRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:25:58.464812+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SCN3A.\nTag treatable tag was added to gene: SCN3A.",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:25:19.092724+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SCN2A.\nTag treatable tag was added to gene: SCN2A.",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:24:34.982857+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SCN1A.",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:24:01.770577+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SCN1A.",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:23:35.368695+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS33B as ready",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:23:35.360188+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Red List (Low Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:23:22.218420+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS33B were changed from Arthrogryposis renal dysfunction cholestasis syndrome to Arthrogryposis, renal dysfunction, and cholestasis MIM#208085",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:23:12.040741+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS33B were set to ",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:22:55.508198+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS33B as Red List (low evidence)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:22:55.497352+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Red List (Low Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:21:59.628148+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: VPS45.",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:21:40.208388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: VPS45.",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:21:24.852055+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: VPS45.",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:21:01.853506+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS45 as ready",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:21:01.844444+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps45 has been classified as Green List (High Evidence).",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:20:57.079507+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS45 were set to ",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:20:35.958012+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: VPS45.",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:20:04.932167+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WAS as ready",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:20:04.922330+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: was has been classified as Green List (High Evidence).",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:20:01.394419+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WAS were set to ",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:19:26.101591+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR62 as ready",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:19:26.086272+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr62 has been classified as Red List (Low Evidence).",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:19:22.793600+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:19:11.611022+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR62 were set to ",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:19:02.174942+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR62 as Red List (low evidence)",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:19:02.165736+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr62 has been classified as Red List (Low Evidence).",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:18:34.694809+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WFS1 as ready",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:18:34.685575+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wfs1 has been classified as Red List (Low Evidence).",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:18:31.275362+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WFS1 were changed from Wolfram syndrome to Wolfram syndrome MIM#222300",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:18:20.882967+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WFS1 were set to ",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:17:32.409008+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WFS1 as Red List (low evidence)",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:17:32.400409+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wfs1 has been classified as Red List (Low Evidence).",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:17:02.042605+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WHRN as ready",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:17:02.033049+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: whrn has been classified as Green List (High Evidence).",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:16:50.252485+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:15:48.012818+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WRAP53 as ready",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:15:48.003727+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wrap53 has been classified as Red List (Low Evidence).",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:15:32.961086+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WRAP53 as Red List (low evidence)",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:15:32.952558+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wrap53 has been classified as Red List (Low Evidence).",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:12:11.191215+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WRN as ready",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:12:11.182577+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wrn has been classified as Red List (Low Evidence).",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:12:07.677812+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WRN were changed from Werner syndrome to Werner syndrome MIM#277700",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:11:57.397719+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WRN were set to ",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:11:48.027362+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WRN as Red List (low evidence)",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:11:48.019240+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wrn has been classified as Red List (Low Evidence).",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:11:15.552103+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XIAP as ready",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:11:15.541542+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xiap has been classified as Green List (High Evidence).",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:11:10.356603+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: XIAP.",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:10:44.582875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: XIAP.",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:10:21.572980+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: XIAP.",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:09:55.327596+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XIAP as ready",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:09:55.318461+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xiap has been classified as Green List (High Evidence).",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2022-10-09T14:09:49.106763+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XIAP were set to ",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:51:58.885920+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.507",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCN3A as ready",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:51:58.870712+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.507",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: scn3a has been classified as Green List (High Evidence).",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:51:51.204340+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.507",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SCN3A were changed from Developmental and epileptic encephalopathy 62, MIM#\t617938 to Epileptic encephalopathy, early infantile, 62, MIM# 617938",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:51:37.459870+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.506",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SCN3A were set to ",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:50:59.366657+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34081427; Phenotypes: Epileptic encephalopathy, early infantile, 62, MIM# 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:43:48.044602+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCN2A as ready",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:43:48.033959+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:43:28.333999+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association. Childhood onset, severe neurological disorder. \r\n\r\nTreatment: Phenytoin; high dose carbamazepine\r\n\r\nNon-genetic confirmatory test: not available; to: Established gene-disease association. \r\n\r\nChildhood onset, severe neurological disorder. \r\n\r\nTreatment: Phenytoin; high dose carbamazepine\r\n\r\nNon-genetic confirmatory test: not available",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:43:14.177452+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:38:06.887192+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCN1A as ready",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:38:06.879987+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: scn1a has been classified as Green List (High Evidence).",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:37:52.476695+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1A were changed from Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet\t, MIM#619317 to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet\t, MIM#619317",
"entity_name": "SCN1A",
"entity_type": "gene"
}
]
}