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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1331",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1329",
"results": [
{
"created": "2021-05-05T20:33:38.672733+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhag has been classified as Green List (High Evidence).",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:33:18.752286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YWHAG were changed from to Developmental and epileptic encephalopathy 56, (MIMI#617665)",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:32:44.607972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YWHAG were set to ",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:32:23.729417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YWHAG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:31:19.011144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175; 32207811",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:29:56.236313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OCRL as ready",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:29:56.226489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ocrl has been classified as Green List (High Evidence).",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:29:48.449329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCRL were changed from to Dent disease 2, MIM# 300555; Lowe syndrome , MIM#309000",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:29:27.891728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OCRL were set to ",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:28:45.817063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:28:20.801246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 15627218, 9199559; Phenotypes: Dent disease 2, MIM# 300555, Lowe syndrome , MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:24:41.633315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOL1 were changed from {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551 to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:24:15.921651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOL1 were set to 29470556; 20647424; 24206458; 20635188",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:22:25.189198+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTT as ready",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:22:25.174229+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htt has been classified as Green List (High Evidence).",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:22:22.833924+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HTT were changed from to Huntington disease, MIM# 143100",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:22:00.216218+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HTT were set to ",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:21:31.461512+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HTT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:21:05.291388+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: HTT.",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:20:56.174276+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HTT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Huntington disease, MIM# 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:19:41.007318+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HTT were set to 26740508; 27329733",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:19:03.187194+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HTT: Added comment: PMID 33432339: Jung et al 2021 - further characterisation of the family previously reported in PMID: 27329733 (Rodan et al 2016) - using WGS they confirm they are the most likely cause of the LOMARS phenotype and clarify their locations as NM_002111.8(HTT): c.8157T>A (p.Phe2719Leu) and NM_002111.8(HTT)c.4469+1G>A (Note there are incorrect Clinvar entries). Functional studies show them each to be a hypomorphic mutation, resulting in severe deficiency of huntingtin in compound heterozygotes. \r\n\r\nStill only 2 cases reported to date ((PMID: 27329733/33432339 and 26740508) with biallelic LOF variants in HTT associated with the LOMARS phenotype although this study add further weight with some functional data.; Changed publications: 26740508, 27329733, 33432339",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:17:28.633177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFRB were changed from Premature aging syndrome, Penttinen type, 601812 to Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:17:09.084946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDGFRB were set to 30573803; 26279204",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:16:41.736465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007, Kosaki overgrowth syndrome, MIM# 616592, Myeloproliferative disorder with eosinophilia, MIM# 131440, Myofibromatosis, infantile, 1, MIM# 228550, Premature ageing syndrome, Penttinen type, MIM# 601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2021-05-05T12:15:27.567781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7491",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33393734, 33590706, 31926053, 33767733; Phenotypes: Developmental and epileptic encephalopathy 56, (MIMI#617665); Mode of inheritance: None",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:33:23.095401+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK1 as ready",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:33:23.084092+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek1 has been classified as Green List (High Evidence).",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:33:16.192545+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK1 were changed from Short rib-polydactyly syndorme, type II to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:33:01.137643+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK1 were set to ",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:32:38.823669+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK1 as Green List (high evidence)",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:32:38.812661+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek1 has been classified as Green List (High Evidence).",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:32:24.651233+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:24:28.638415+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK1 as ready",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:24:28.628353+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek1 has been classified as Green List (High Evidence).",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:24:25.546836+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:24:01.487456+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK1 were set to ",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:23:36.502061+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:23:11.170895+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:22:13.347961+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK1 as ready",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:22:13.333394+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek1 has been classified as Green List (High Evidence).",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:22:08.579349+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:21:46.026643+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK1 were set to ",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:21:14.700744+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:20:45.969482+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:19:58.281328+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK1 as ready",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:19:58.267750+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek1 has been classified as Green List (High Evidence).",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:19:55.951383+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:19:27.218477+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK1 were set to ",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:18:58.193071+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:18:34.047899+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:17:34.424187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK1 as ready",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:17:34.412476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek1 has been classified as Green List (High Evidence).",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:17:26.407367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:17:09.495476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK1 were set to ",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:16:46.470372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:16:24.641351+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520, Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-05T05:29:19.803659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7488",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: IL6ST: Rating: ; Mode of pathogenicity: None; Publications: 33517393; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2021-05-05T02:55:45.844673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7488",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: PMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explains symptom heterogeneity and may help stratify patients.; to: Genotype/Phenotype information:\r\nPMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explains symptom heterogeneity and may help stratify patients.",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-05T02:55:01.983064+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7488",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: Lowe syndrome, OMIM:309000; Mode of inheritance: None",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-05T01:02:27.826206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7488",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33517446; Phenotypes: {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551, {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551; Mode of inheritance: None",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2021-05-05T00:15:50.204392+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.62",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: PMID: 33432339 - Jung et al 2021 - further characterisation of the family previously reported in PMID: 27329733 (Rodan et al 2016) - using WGS they confirm they are the most likely cause of the LOMARS phenotype and clarify their locations as NM_002111.8(HTT): c.8157T>A (p.Phe2719Leu) and NM_002111.8(HTT)c.4469+1G>A (Note there are incorrect Clinvar entries). Functional studies show them each to be a hypomorphic mutation, resulting in severe deficiency of huntingtin in compound heterozygotes. \r\n\r\nStill only 2 cases reported to date with biallelic LOF variants in HTT associated with the LOMARS phenotype although this study add further weight with some functional data.; to: PMID: 33432339 - Jung et al 2021 - further characterisation of the family previously reported in PMID: 27329733 (Rodan et al 2016) - using WGS they confirm they are the most likely cause of the LOMARS phenotype and clarify their locations as NM_002111.8(HTT): c.8157T>A (p.Phe2719Leu) and NM_002111.8(HTT)c.4469+1G>A (Note there are incorrect Clinvar entries). Functional studies show them each to be a hypomorphic mutation, resulting in severe deficiency of huntingtin in compound heterozygotes. \r\n\r\nStill only 2 cases reported to date ((PMID: 27329733/33432339 and 26740508) with biallelic LOF variants in HTT associated with the LOMARS phenotype although this study add further weight with some functional data.",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-05T00:14:07.773227+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.62",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: None; Publications: 33432339, 27329733, 26740508; Phenotypes: Lopes-Maciel-Rodan syndrome OMIM:617435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-05-04T23:16:34.125857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7488",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: PDGFRB: Rating: ; Mode of pathogenicity: None; Publications: 33450762; Phenotypes: Ocular pterygium-digital keloid dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2021-05-04T20:03:08.904085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7488",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33445179; Phenotypes: {Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:52:21.365931+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INF2 as ready",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:52:21.306800+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inf2 has been classified as Green List (High Evidence).",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:52:05.639248+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INF2 were changed from to Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455; Glomerulosclerosis, focal segmental, 5, MIM# 613237",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:51:47.819493+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INF2 were set to ",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:51:23.016339+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:50:55.996657+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22187985, 30680856, 25943269, 20023659; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455, Glomerulosclerosis, focal segmental, 5, MIM# 613237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:49:48.044373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INF2 as ready",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:49:48.034330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inf2 has been classified as Green List (High Evidence).",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:49:40.907072+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INF2 were changed from to Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455; Glomerulosclerosis, focal segmental, 5, MIM# 613237",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:49:23.769071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INF2 were set to ",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:49:03.907446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:48:45.316801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22187985, 30680856, 25943269, 20023659; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455, Glomerulosclerosis, focal segmental, 5, MIM# 613237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:05:38.705758+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED25 as ready",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:05:38.696222+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med25 has been classified as Green List (High Evidence).",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:05:34.756649+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED25 were changed from Charcot-Marie-Tooth disease to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:05:21.954463+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED25 were set to ",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:05:08.785722+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED25 as Green List (high evidence)",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:05:08.772829+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med25 has been classified as Green List (High Evidence).",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:04:57.225731+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:04:02.068409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities.\r\n\r\n7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.; to: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in intellectual disability, as well as variable eye, brain, cardiac, and palatal abnormalities.\r\n\r\n7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:03:36.944027+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED25 as ready",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:03:36.933101+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med25 has been classified as Green List (High Evidence).",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:03:32.190518+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED25 were changed from to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:02:07.166841+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED25 were set to ",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:01:37.555075+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:01:06.772720+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: MED25.",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:00:57.050672+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities. 7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.; to: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in intellectual disability, as well as variable eye, brain, cardiac, and palatal abnormalities. 7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T19:00:41.740881+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T18:59:52.020978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED25 as ready",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T18:59:52.010135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med25 has been classified as Green List (High Evidence).",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T18:59:43.517871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED25 were changed from to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T18:59:21.783035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED25 were set to ",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T18:59:04.103490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T18:58:46.416313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2021-05-04T16:03:06.554762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPB1 as ready",
"entity_name": "HSPB1",
"entity_type": "gene"
}
]
}