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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=846",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=844",
"results": [
{
"created": "2022-05-11T18:09:57.414481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:09:48.127914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A1 were changed from to Erythrocyte lactate transporter defect, MIM# 245340; Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021; Monocarboxylate transporter 1 deficiency, MIM# 616095",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:06:29.082993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC16A1 were set to ",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:06:08.943366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC16A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:05:48.873565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25390740, 32170320; Phenotypes: Erythrocyte lactate transporter defect, MIM# 245340, Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021, Monocarboxylate transporter 1 deficiency, MIM# 616095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:59:59.321138+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC11A2 as ready",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:59:59.311711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc11a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:59:50.159716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC11A2 were changed from to Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:59:29.764563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC11A2 were set to ",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:59:09.982289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC11A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:58:08.933254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH2D1A as ready",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:58:08.922746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh2d1a has been classified as Green List (High Evidence).",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:57:59.790339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SH2D1A were changed from to Lymphoproliferative syndrome, X-linked, 1, MIM# 308240",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:57:21.446716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SH2D1A were set to ",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:57:00.953286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SH2D1A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:56:40.877929+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:55:49.315512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCG as ready",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:55:49.302820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgcg has been classified as Green List (High Evidence).",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:55:40.294382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGCG were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; autosomal recessive limb-girdle muscular dystrophy MONDO:0015152",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:55:18.969372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGCG were set to ",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:54:57.022156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SGCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:24:07.986191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14093",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FMR1 were set to ",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:23:50.911081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14092",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FLVCR1 as ready",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:23:50.900171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14092",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flvcr1 has been classified as Green List (High Evidence).",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:20:52.474941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14092",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FLVCR1 were changed from to posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:20:47.118947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14091",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FLNC as ready",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:20:47.109487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14091",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:18:31.846766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14091",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FMR1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-11T17:17:46.259499+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14090",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8156595, 28176767, 29178241; Phenotypes: Fragile X syndrome MONDO:0010383; 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": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-11T14:10:42.676007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14090",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FLVCR1 were set to ",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-05-11T14:07:43.360996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14089",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLVCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-05-11T14:05:32.043189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14088",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FLNC were changed from to Myofibrillar myopathy MONDO:0018943; Dilated cardiomyopathy MONDO:0005021; distal myopathy with posterior leg and anterior hand involvement MONDO:0013550",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-05-11T14:04:13.022964+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FLVCR1: Added comment: At least 5 unrelated families reported with visual impairment and ataxia. Onset is usually in childhood.; Changed publications: 21070897, 22279524, 21267618; Changed phenotypes: posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177; Set current diagnostic: yes",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-05-11T13:49:48.469982+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-05-11T13:49:43.041568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FLNC were set to ",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-05-11T13:47:47.419451+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14086",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-05-11T13:45:40.641565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 15929027, 32112656; Phenotypes: Myofibrillar myopathy MONDO:0018943, Dilated cardiomyopathy MONDO:0005021, distal myopathy with posterior leg and anterior hand involvement MONDO:0013550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-05-11T13:19:43.197871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FLNB: Changed phenotypes: spondylocarpotarsal synostosis syndrome MONDO:0010094, filamin-related bone disorder MONDO:0019690",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2022-05-11T13:19:03.870342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FLNB: Changed phenotypes: filamin-related bone disorder MONDO:0019690",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2022-05-11T13:17:48.066087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FLNB were changed from spondylocarpotarsal synostosis syndrome MONDO:0010094; osteochondrodysplasia MONDO:0005516 to spondylocarpotarsal synostosis syndrome MONDO:0010094; filamin-related bone disorder MONDO:0019690",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2022-05-11T12:42:05.878639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14084",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FLNB as ready",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2022-05-11T12:42:05.867948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14084",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flnb has been classified as Green List (High Evidence).",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2022-05-11T12:34:20.640969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14084",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FLNB were changed from to spondylocarpotarsal synostosis syndrome MONDO:0010094; osteochondrodysplasia MONDO:0005516",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2022-05-11T12:32:52.329332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14083",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FLNB were set to ",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2022-05-11T12:31:28.995836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14082",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2022-05-11T12:27:11.650452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14081",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: None; Publications: 14991055, 17360453, 20301736, 29566257, 16801345, 22190451; Phenotypes: spondylocarpotarsal synostosis syndrome MONDO:0010094, osteochondrodysplasia MONDO:0005516; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2022-05-11T11:06:01.536874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14081",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FLI1 as ready",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2022-05-11T11:06:01.518159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14081",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fli1 has been classified as Green List (High Evidence).",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2022-05-11T11:03:40.614429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14081",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FLI1 were changed from to Bleeding disorder, platelet-type, 21 MONDO:0054577",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2022-05-11T11:00:32.042461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14080",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FLI1 were set to ",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2022-05-11T10:58:09.019313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14079",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2022-05-11T10:47:58.555058+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14078",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10891501, 10981960, 24100448, 28255014, 26316623; Phenotypes: Bleeding disorder, platelet-type, 21 MONDO:0054577; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2022-05-11T10:37:31.364614+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.25",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ODC1 was added\ngene: ODC1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ODC1 were set to 30475435; 30239107\nPhenotypes for gene: ODC1 were set to Bachmann-Bupp syndrome (MIM#619075)\nReview for gene: ODC1 was set to GREEN\nAdded comment: Polyhydraminos are a common prenatal finding in individuals with ODC1 variants. Malformations of cortical development and intracranial calcification have also been reported. \nSources: Literature",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:48:20.893358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14078",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: FKTN.",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:43:24.932063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14078",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FLG as ready",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:43:24.916119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14078",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flg has been classified as Green List (High Evidence).",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:42:33.072247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14078",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ASS1 as ready",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:42:33.062463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14078",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ass1 has been classified as Green List (High Evidence).",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:41:00.462594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14078",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris MONDO:0024304",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:38:46.181990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14077",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FLG were set to ",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:36:32.088539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14076",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLG was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:36:00.838579+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14075",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ASS1 were changed from to Citrullinemia MIM#215700; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:35:46.737754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14074",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ASTN1 as ready",
"entity_name": "ASTN1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:35:46.725583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14074",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: astn1 has been classified as Green List (High Evidence).",
"entity_name": "ASTN1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:35:43.644731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14074",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ASS1 were set to ",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:35:38.387196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14074",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:34:07.684421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14073",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ASTN1 were changed from to Polymicrogyria; hypoplastic corpus callosum",
"entity_name": "ASTN1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:33:39.344660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14072",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16444271, 19349982, 34608691; Phenotypes: Ichthyosis vulgaris MONDO:0024304; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:22:48.851312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14072",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891",
"entity_name": "ASTN1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:22:39.809011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14072",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ASTN1 were set to ",
"entity_name": "ASTN1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:22:38.349897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14072",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASTN1",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:10:20.085107+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ARL2BP as Amber List (moderate evidence)",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:10:20.075866+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arl2bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:09:16.848513+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.17",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ARL2BP as Amber List (moderate evidence)",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:09:16.837384+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.17",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arl2bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:08:54.753120+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.17",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ARL2BP as Amber List (moderate evidence)",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:08:54.743781+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.17",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arl2bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:08:37.769226+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.16",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ARL2BP as ready",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:08:37.757125+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.16",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arl2bp has been classified as Red List (Low Evidence).",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:07:42.682808+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.16",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ARL2BP was added\ngene: ARL2BP was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL2BP were set to PMID: 23849777\nPhenotypes for gene: ARL2BP were set to Retinitis pigmentosa with or without situs inversus MIM#615434\nReview for gene: ARL2BP was set to AMBER\nAdded comment: PMID: 23849777 - Two families with retinitis pigmentosa and situs inversus, with a homozygous missense or canonical splice variant. Missense variant shown to affect ARL2 binding, RT-PCR of patient blood proved the splice variant to result in multiple transcripts but all resulting in a fs and PTC. \nSources: Literature",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:04:47.613079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14071",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ASB10 were changed from Glaucoma 1, open angle, F MIM#603383 to Glaucoma 1, open angle, F MIM#603383",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:03:51.238066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14070",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:03:51.226691+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14070",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fktn has been classified as Green List (High Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2022-05-11T09:02:32.595266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14070",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy MONDO:0018276",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2022-05-11T08:59:32.011206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14069",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FKTN were set to ",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2022-05-11T08:51:33.897533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14068",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2022-05-11T08:50:28.749713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14067",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 9690476, 19017726, 20301385, 28680109; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:22:03.481543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSN as ready",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:22:03.469281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsn has been classified as Green List (High Evidence).",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:21:53.302953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type, MIM# 105120",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:20:41.964204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSN were set to ",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:20:18.666288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GSN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:19:59.081874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported.\r\n\r\nMultiple families with same founder variant.; to: The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported.\r\n\r\nMultiple families with same founder variant, p.Asp187Asn, though other variants also reported.",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:19:24.039921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GSN: Changed publications: 2176164, 28139293",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:16:43.878928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 2176164; Phenotypes: Amyloidosis, Finnish type, MIM# 105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:11:07.675294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSS as ready",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:11:07.665532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gss has been classified as Green List (High Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:10:59.253797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:10:42.792836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSS were set to ",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:09:38.401096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSS",
"entity_type": "gene"
}
]
}