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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=549",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=547",
"results": [
{
"created": "2023-09-15T10:47:14.370632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLK11 as ready",
"entity_name": "KLK11",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:47:14.359210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk11 has been classified as Green List (High Evidence).",
"entity_name": "KLK11",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:47:03.433235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLK11 as Green List (high evidence)",
"entity_name": "KLK11",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:47:03.424202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk11 has been classified as Green List (High Evidence).",
"entity_name": "KLK11",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:46:43.452453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLK11 was added\ngene: KLK11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KLK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLK11 were set to 36689511; 37212630\nPhenotypes for gene: KLK11 were set to Ichthyosis with erythrokeratoderma, MIM# 620507\nReview for gene: KLK11 was set to GREEN\nAdded comment: Four families reported: one multiplex with variant segregating with disease in 4 affected and 4 unaffected individuals. Three additional families with de novo variants. \nSources: Literature",
"entity_name": "KLK11",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:45:04.842457+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLK11 as ready",
"entity_name": "KLK11",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:45:04.824192+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk11 has been classified as Green List (High Evidence).",
"entity_name": "KLK11",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:44:54.345464+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLK11 as Green List (high evidence)",
"entity_name": "KLK11",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:44:54.335784+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk11 has been classified as Green List (High Evidence).",
"entity_name": "KLK11",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:44:23.601862+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLK11 was added\ngene: KLK11 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: KLK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLK11 were set to 36689511; 37212630\nPhenotypes for gene: KLK11 were set to Ichthyosis with erythrokeratoderma, MIM#\t620507\nReview for gene: KLK11 was set to GREEN\nAdded comment: Four families reported: one multiplex with variant segregating with disease in 4 affected and 4 unaffected individuals. Three additional families with de novo variants. \nSources: Literature",
"entity_name": "KLK11",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:00:03.092078+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301729; Phenotypes: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:57:52.020284+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301655; Phenotypes: Cohen syndrome MONDO:0008999; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:56:17.051765+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646678; Phenotypes: pontocerebellar hypoplasia type 1A MONDO:0011866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:51:30.414648+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 28211668; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148, neurodegeneration with brain iron accumulation 5 MONDO:0010476; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:45:03.505240+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 26123727; Phenotypes: Galloway-Mowat syndrome 1 MONDO:0033005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:44:54.731946+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843046, 22243968, 7296942, 8261650; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050, Myhre syndrome MIM#139210, Pancreatic cancer, somatic MIM#260350, Polyposis, juvenile intestinal MIM#174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:39:03.278672+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 25411445, 24369382; Phenotypes: developmental and epileptic encephalopathy, 28 MONDO:0014533, autosomal recessive spinocerebellar ataxia 12 MONDO:0013687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:38:55.897479+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25872942, 25839420, 18695064; Phenotypes: Short stature, microcephaly, and endocrine dysfunction MIM#616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:33:58.094698+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25728776; Phenotypes: short stature, microcephaly, and endocrine dysfunction MONDO:0014686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:31:34.981285+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11425694, 23001566, 19465910, 22333901; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7 MIM#610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:27:40.755212+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436253; Phenotypes: Syndromic X-linked intellectual disability Raymond type MONDO:0010427; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2023-09-15T09:05:33.341930+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682; Phenotypes: hereditary spastic paraplegia 15 MONDO:0010044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-09-15T08:50:32.058894+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21940735; Phenotypes: holoprosencephaly 5 MONDO:0012322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2023-09-14T13:43:55.921974+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HMBS as Green List (high evidence)",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-09-14T13:43:55.902415+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-09-14T13:43:30.892815+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 37113461, 25389600, 18647325, 36335232, 34187794, 30778035, 18816221, 15298749; Phenotypes: Porphyria, acute intermittent MIM#176000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-09-14T13:40:15.652811+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-09-14T11:54:46.437255+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10533067, 18830229, 15798777, 17304050; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-09-14T11:48:32.458938+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985384, 10533067, 10205261, 17304050; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-09-13T23:06:13.032227+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37500725; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:15:55.853046+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCF1 as Green List (high evidence)",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:15:55.841363+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncf1 has been classified as Green List (High Evidence).",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:15:40.278124+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NCF1: Changed rating: GREEN",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:15:18.334025+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCF1 as Amber List (moderate evidence)",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:15:18.324131+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:15:03.576597+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: NCF1.",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:14:53.769949+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NCF1: Added comment: Mappability issues.; Changed rating: AMBER",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:14:07.215842+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP21A2 as Green List (high evidence)",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:14:07.197113+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp21a2 has been classified as Green List (High Evidence).",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:13:56.907703+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CYP21A2.\nTag endocrine tag was added to gene: CYP21A2.\nTag technically challenging tag was added to gene: CYP21A2.",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:13:38.794825+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CYP21A2: Added comment: Part of Victorian sNBS, therefore include, although technically challenging.; Changed rating: GREEN",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:12:26.509668+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: CORO1A.",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:11:40.400876+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: F8.\nTag technically challenging tag was added to gene: F8.",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:09:55.854719+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: GBA.",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:08:59.815347+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMS2 as Amber List (moderate evidence)",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:08:59.802696+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pms2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:08:48.820266+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: PMS2.",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:08:32.444573+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PMS2: Added comment: Mappability issues.; Changed rating: AMBER",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:07:52.762051+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGHM as Amber List (moderate evidence)",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:07:52.749934+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighm has been classified as Amber List (Moderate Evidence).",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:07:42.346045+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: IGHM.",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:07:31.869748+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IGHM: Changed rating: AMBER",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:07:23.973573+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: IGHM: RefSeq annotation issues.",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:06:34.879424+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STRC as Amber List (moderate evidence)",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:06:34.864075+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: strc has been classified as Amber List (Moderate Evidence).",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:06:24.051166+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: STRC.",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2023-09-13T17:04:44.548706+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STRC: Added comment: Technical issues with multi-mapping, therefore exclude for now.; Changed rating: AMBER",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2023-09-13T14:25:36.931051+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2023-09-13T14:24:17.090271+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2023-09-13T14:23:25.689805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2023-09-13T14:23:05.530262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GABBR1: Changed phenotypes: Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2023-09-13T10:30:54.733457+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAB2 as ready",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2023-09-13T10:30:54.723485+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tab2 has been classified as Green List (High Evidence).",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2023-09-13T10:30:48.622657+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAB2 as Green List (high evidence)",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2023-09-13T10:30:48.604661+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tab2 has been classified as Green List (High Evidence).",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2023-09-12T14:28:36.491619+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MATR3 were set to ",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2023-09-12T14:06:14.487723+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2023-09-12T13:12:23.439328+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.43",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: REL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34623332; Phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:20:52.266083+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA5 as ready",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:20:52.254306+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:20:48.951623+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA5 were changed from Atrial fibrillation to Atrial fibrillation, familial, 7, MIM# 612240",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:20:32.491048+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNA5 as Red List (low evidence)",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:20:32.478456+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:19:55.278322+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 7, MIM# 612240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:18:32.648036+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRG2 as ready",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:18:32.637094+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrg2 has been classified as Red List (Low Evidence).",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:18:22.065977+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRG2 as Red List (low evidence)",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:18:22.045137+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrg2 has been classified as Red List (Low Evidence).",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:18:21.532705+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRG2 as Red List (low evidence)",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:18:21.517462+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrg2 has been classified as Red List (Low Evidence).",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:18:06.869481+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GABRG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:16:59.946866+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:16:59.934999+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Red List (Low Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:16:46.048134+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita, X-linked, MIM#\t305000; Dyskeratosis congenita to Dyskeratosis congenita, X-linked, MIM#\t305000",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:16:22.928900+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DKC1 as Red List (low evidence)",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:16:22.918028+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Red List (Low Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:16:09.558370+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, X-linked, MIM# 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:12:07.723758+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN2A as ready",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:12:07.702874+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn2a has been classified as Red List (Low Evidence).",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:08:49.403735+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN2A were changed from Melanoma to {Melanoma, cutaneous malignant, 2}, MIM# 155601",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:08:37.067580+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKN2A as Red List (low evidence)",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:08:37.042756+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn2a has been classified as Red List (Low Evidence).",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:08:25.788122+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 2}, MIM# 155601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:05:59.879645+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPR2 as ready",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:05:59.869826+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr2 has been classified as Red List (Low Evidence).",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:05:56.113008+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR2 were changed from Pulmonary hypertension, familial primary to Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:05:38.366650+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BMPR2 as Red List (low evidence)",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:05:38.350602+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr2 has been classified as Red List (Low Evidence).",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:05:27.242823+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2023-09-11T19:02:33.784252+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AIP as Red List (low evidence)",
"entity_name": "AIP",
"entity_type": "gene"
}
]
}