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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1271",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1269",
"results": [
{
"created": "2021-07-16T20:11:53.873201+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:11:29.294963+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT172 were set to ",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:10:59.355387+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:10:28.192267+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is also associated with skeletal ciliopathy, with nephronophthisis reported.",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:09:48.520047+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT172: Changed publications: 30761183, 26763875, 25168386, 24140113; Changed phenotypes: Bardet-Biedl syndrome, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:07:39.093488+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127MONDO:0013127",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:07:03.057273+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYNC2H1: Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:05:22.156459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2H1 were set to 19442771; 19361615; 22499340; 23456818; 27925158",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:04:53.143745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 50 unrelated families reported.; to: More than 50 unrelated families reported with predominantly skeletal dysplasia.\r\n\r\nAssociation with RP: - Five affected probands with homozygous and compound heterozygous missense and PTC variants - Associated with the NM_001080463.1 transcript (predominant isoform in retina from retinal organoid studies). PMID 32753734",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:04:02.474243+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYNC2H1: Changed publications: 19442771, 19361615, 22499340, 23456818, 27925158, 32753734; Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127, Non-syndromic retinitis pigmentosa",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:03:11.538357+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2H1 as ready",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:03:11.528297+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:03:06.305671+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DYNC2H1 as Green List (high evidence)",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:03:06.295075+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:01:48.395430+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2H1 as ready",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:01:48.385109+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:01:45.923800+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:01:22.321660+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2H1 were set to ",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:00:52.607204+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:00:25.244651+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31730820; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:48:58.944934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436",
"entity_name": "STK36",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:48:38.893028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436",
"entity_name": "STK36",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:48:21.911373+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436",
"entity_name": "STK36",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:47:51.673704+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436",
"entity_name": "STK36",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:47:37.426866+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436",
"entity_name": "STK36",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:47:05.726361+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436",
"entity_name": "STK36",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:46:18.191480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF20A as ready",
"entity_name": "KIF20A",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:46:18.182244+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif20a has been classified as Red List (Low Evidence).",
"entity_name": "KIF20A",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:46:08.457252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF20A: Changed rating: RED",
"entity_name": "KIF20A",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:45:50.320492+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF20A was added\ngene: KIF20A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIF20A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF20A were set to 29357359\nPhenotypes for gene: KIF20A were set to Cardiomyopathy, familial restrictive, 6, MIM# 619433\nReview for gene: KIF20A was set to GREEN\nAdded comment: Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene. \nSources: Literature",
"entity_name": "KIF20A",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:43:11.255429+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF20A as ready",
"entity_name": "KIF20A",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:43:11.245107+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif20a has been classified as Red List (Low Evidence).",
"entity_name": "KIF20A",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:42:43.053076+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF20A was added\ngene: KIF20A was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: KIF20A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF20A were set to 29357359\nPhenotypes for gene: KIF20A were set to Cardiomyopathy, familial restrictive, 6, MIM#\t619433\nReview for gene: KIF20A was set to RED\nAdded comment: Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene. \nSources: Literature",
"entity_name": "KIF20A",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:39:25.146796+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTG2 were set to ",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:39:13.372173+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTG2: Added comment: More than 20 unrelated families reported.; Changed publications: 24676022, 26647307",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:38:31.000340+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG2 as ready",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:38:30.990017+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg2 has been classified as Green List (High Evidence).",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:38:28.945821+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTG2 were changed from Visceral myopathy, 155310 to Visceral myopathy, 155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:38:14.133151+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:38:03.694180+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:37:32.724265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTG2 were changed from Visceral myopathy, MIM#155310 to Visceral myopathy, MIM#155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM#\t619431",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2021-07-16T08:37:13.353872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTG2: Changed phenotypes: Visceral myopathy, MIM#155310, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:41:02.666118+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADA as ready",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:41:02.650182+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada has been classified as Green List (High Evidence).",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:40:52.321735+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:40:21.457388+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADA were set to ",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:39:56.171281+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:39:02.614142+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 3007108, 3475710, 8178821, 8227344, 2783588; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:31:55.918159+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP41 as ready",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:31:55.907142+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep41 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:31:50.363191+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:31:16.263555+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP41 were set to ",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:30:46.268814+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:30:16.859867+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP41 as Amber List (moderate evidence)",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:30:16.850078+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep41 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-07-15T20:29:45.231542+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-07-15T18:58:56.604162+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B2M were changed from Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; - Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434 to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T18:27:08.366718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B2M as ready",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T18:27:08.356678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b2m has been classified as Green List (High Evidence).",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T18:27:01.002351+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B2M were changed from to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434; Amyloidosis, familial visceral, MIM# 105200",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T18:26:41.699991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B2M were set to ",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T18:26:18.852091+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B2M was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T18:25:57.494189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: None; Publications: 4186801, 16549777, 25702838, 11118151, 6165007, 22693999; Phenotypes: Immunodeficiency 43 MIM# 241600, Sinopulmonary infections, Purple-red skin lesions, Decreased serum IgG, Decreased B cells, Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c, MONDO:0009434, Amyloidosis, familial visceral, MIM# 105200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T16:31:28.213418+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B2M as ready",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T16:31:28.200922+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b2m has been classified as Green List (High Evidence).",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T16:30:38.376604+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B2M were changed from to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; - Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T16:29:26.977602+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B2M were set to ",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T16:28:25.183825+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B2M was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T15:05:52.019188+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.201",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: None; Publications: 4186801, 16549777, 25702838, 11118151, 6165007; Phenotypes: Immunodeficiency 43 MIM# 241600, Sinopulmonary infections, Purple-red skin lesions, - Decreased serum IgG, Decreased B cells, Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2021-07-15T13:15:47.508908+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP290 as ready",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-07-15T13:15:47.499372+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Green List (High Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-07-15T13:14:11.193940+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP290 were changed from to Senior-Loken syndrome 6, MIM# 610189",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-07-15T13:09:52.112808+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP290 were set to ",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-07-15T13:09:33.157630+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-07-15T13:09:02.600654+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene cause a range of ciliopathies. The association with BBS is rare.; to: Variants in this gene cause a range of ciliopathies, including Senior-Loken syndrome/nephronophthisis.",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-07-15T13:08:34.895543+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP290: Changed publications: 18327255, 20690115, 16682973, 32208788; Changed phenotypes: Senior-Loken syndrome 6, MIM# 610189",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:55:11.318576+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AK2 as ready",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:55:11.308223+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ak2 has been classified as Green List (High Evidence).",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:55:07.785661+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AK2 as Green List (high evidence)",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:55:07.775874+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ak2 has been classified as Green List (High Evidence).",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:54:39.012264+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AK2 was added\ngene: AK2 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AK2 were set to 19043417; 19043416\nPhenotypes for gene: AK2 were set to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness; MONDO:0009973\nReview for gene: AK2 was set to GREEN\nAdded comment: PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.\r\n\r\nPMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals. \nSources: Literature",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:53:17.429310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:53:00.860918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK2 were set to 19043416",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:52:40.858904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.\r\n\r\nPMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.\r\n\r\nPMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:52:24.522260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AK2: Changed phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:52:16.734217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AK2: Changed publications: 19043416, 19043417",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:51:52.466785+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:51:37.594052+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK2 were set to 19043416; 19043417",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:51:16.862250+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK2 were set to 19043416; 19043417",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:50:56.418315+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK2 were set to 19043416",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:50:26.502051+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AK2: Changed publications: 19043416, 19043417",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:50:18.767598+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.\r\n\r\nPMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.\r\n\r\nPMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:49:47.671441+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AK2: Changed phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:49:46.722222+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AK2 were changed from Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness; MONDO:0009973",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:44:59.437224+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AK2 as ready",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:44:59.419872+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ak2 has been classified as Green List (High Evidence).",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:44:56.745742+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AK2 were changed from to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:44:39.176235+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK2 were set to ",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T12:42:31.697330+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-07-15T11:22:33.085573+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.197",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "changed review comment from: PMID: 19043417. 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.\r\n\r\nPMID: 19043416. 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. \r\n\r\nReticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.; to: PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.\r\n\r\nPMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. \r\n\r\nReticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.\r\nSources: Literature",
"entity_name": "AK2",
"entity_type": "gene"
}
]
}