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{
"count": 220460,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1286",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1284",
"results": [
{
"created": "2021-06-25T14:41:42.553853+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL6 were set to ",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:41:05.432789+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:40:30.162111+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported and functional data.; to: Multiple families reported and functional data, ID is a key feature.",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:40:20.079685+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:36:27.573803+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:34:00.349457+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL6 were set to ",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:33:33.831055+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:32:32.036305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL6 as ready",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:32:32.018368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl6 has been classified as Green List (High Evidence).",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:32:22.852947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:32:02.260889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL6 were set to ",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:31:44.279504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:31:30.873278+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6 were changed from Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575 to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:31:25.778915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151, Retinitis pigmentosa 55, MIM# 613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:31:15.748914+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:30:53.811644+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL6 were set to ",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:29:06.367514+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:28:35.851392+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported and functional data.; to: Multiple families reported with BBS and functional data. Some families reported with isolated RP.",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T14:28:19.060566+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARL6: Changed publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Changed phenotypes: Bardet-Biedl syndrome 3, MIM# 600151, Retinitis pigmentosa 55, MIM# 613575",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:55:35.915218+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPRY2 as ready",
"entity_name": "SPRY2",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:55:35.905106+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spry2 has been classified as Red List (Low Evidence).",
"entity_name": "SPRY2",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:55:29.060914+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: A single family reported with expression analyses conducted in some patient cells. \nSources: Literature; to: A single family reported with expression analyses conducted in some patient cells. No variants identified in 70 apparently sporadic cases with IgAN.\r\nSources: Literature",
"entity_name": "SPRY2",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:54:24.724755+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPRY2 was added\ngene: SPRY2 was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: SPRY2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPRY2 were set to 25782674\nPhenotypes for gene: SPRY2 were set to {?IgA nephropathy, susceptibility to, 3}\tMIM#616818\nReview for gene: SPRY2 was set to RED\nAdded comment: A single family reported with expression analyses conducted in some patient cells. \nSources: Literature",
"entity_name": "SPRY2",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:19:16.201417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL37 were changed from Infantile inflammatory bowel disease to Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398",
"entity_name": "IL37",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:18:54.129385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL37: Changed phenotypes: Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398",
"entity_name": "IL37",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:18:43.785546+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL37 were changed from Infantile inflammatory bowel disease to Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM#\t619398",
"entity_name": "IL37",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:18:07.907174+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL37: Changed phenotypes: Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398",
"entity_name": "IL37",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:17:14.004884+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLCO2A1 as ready",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:17:13.992240+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slco2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:17:10.761619+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2 to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:16:52.807138+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLCO2A1 were set to ",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:16:38.401245+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:16:24.156067+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:15:25.980699+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLCO2A1 as ready",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:15:25.970889+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slco2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:15:20.127070+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLCO2A1 were set to ",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:14:48.818388+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:14:20.251706+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:13:22.236382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLCO2A1 were changed from to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:12:54.140908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLCO2A1 were set to ",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:12:33.364274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLCO2A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:12:13.126643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLCO2A1: Changed publications: 23509104, 27134495, 33852188, 22331663, 27134495",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T10:12:02.171499+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495]; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2021-06-25T09:53:08.699185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFB11: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-25T09:52:52.952654+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFB11 as ready",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-25T09:52:52.942464+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb11 has been classified as Green List (High Evidence).",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-25T09:52:44.626065+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB11 were set to ",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-25T09:21:20.169827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721 to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721; X-linked sideroblastic anaemia",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-25T09:20:51.841575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB11 were set to 28050600; 27488349; 30423443; 27488349",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-25T09:20:19.512874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: X-linked sideroblastic anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:27:15.999975+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFB11 as ready",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:27:15.989588+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb11 has been classified as Green List (High Evidence).",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:27:13.950854+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB11 were changed from sideroblastic anaemia to X-linked sideroblastic anaemia",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:27:05.158654+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB11 were set to ",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:26:57.605205+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFB11 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:26:34.247092+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFB11 as Green List (high evidence)",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:26:34.235943+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb11 has been classified as Green List (High Evidence).",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:26:22.787548+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: X-linked sideroblastic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:16:04.088770+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R1A as ready",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:16:04.076059+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r1a has been classified as Green List (High Evidence).",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:16:00.633873+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:15:33.671246+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R1A were set to ",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:14:54.054804+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:14:27.209912+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:13:43.835539+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R1A as ready",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:13:43.826024+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r1a has been classified as Green List (High Evidence).",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:13:37.212439+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:13:11.636366+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R1A were set to ",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:12:42.372345+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:12:04.136801+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168268, 33106617; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:11:07.127234+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:10:28.034385+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R1A as ready",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:10:28.023763+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r1a has been classified as Green List (High Evidence).",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:10:21.804922+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:09:45.151504+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R1A as Green List (high evidence)",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:09:45.141766+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r1a has been classified as Green List (High Evidence).",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:09:13.343066+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R1A as ready",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:09:13.332228+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r1a has been classified as Green List (High Evidence).",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:08:53.133315+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R1A as Green List (high evidence)",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:08:53.120953+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r1a has been classified as Green List (High Evidence).",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:05:37.236691+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R1A as ready",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:05:37.225730+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r1a has been classified as Green List (High Evidence).",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:04:16.437091+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:03:39.125383+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R1A as Green List (high evidence)",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:03:39.116423+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r1a has been classified as Green List (High Evidence).",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:03:07.269892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability with variable other features, including CC abnormalities and microcephaly.; to: Intellectual disability with variable other features, including CC abnormalities and microcephaly/macrocephaly.",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:02:53.345298+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:01:47.054680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R1A as ready",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:01:47.043876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r1a has been classified as Green List (High Evidence).",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:01:38.043551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:01:19.055661+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R1A were set to ",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:00:45.227312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T21:00:21.125222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-06-24T15:33:42.982616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KIF1B as Amber List (moderate evidence)",
"entity_name": "KIF1B",
"entity_type": "gene"
},
{
"created": "2021-06-24T15:33:42.971525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kif1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF1B",
"entity_type": "gene"
},
{
"created": "2021-06-24T13:21:08.641100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARHGEF10 as ready",
"entity_name": "ARHGEF10",
"entity_type": "gene"
},
{
"created": "2021-06-24T13:21:08.632160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arhgef10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARHGEF10",
"entity_type": "gene"
},
{
"created": "2021-06-24T13:18:55.994228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARHGEF10 as Amber List (moderate evidence)",
"entity_name": "ARHGEF10",
"entity_type": "gene"
},
{
"created": "2021-06-24T13:18:55.989754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen gene-disease clinical validity classification is limited for this gene.",
"entity_name": "ARHGEF10",
"entity_type": "gene"
},
{
"created": "2021-06-24T13:18:55.967146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arhgef10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARHGEF10",
"entity_type": "gene"
}
]
}