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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1739",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1737",
"results": [
{
"created": "2020-07-08T16:31:55.342131+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NF2 as ready",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:31:55.334400+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nf2 has been classified as Green List (High Evidence).",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:31:52.825249+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NF2 were changed from to Neurofibromatosis, type 2 (MIM# 101000)",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:31:30.986520+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:30:38.391140+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.191",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Classified as \"definitive\" for Norrie Disease by ClinGen working group (https://search.clinicalgenome.org/kb/gene-validity/9611); to: Classified as \"definitive\" for Norrie Disease by ClinGen working group (https://search.clinicalgenome.org/kb/gene-validity/9611)\r\n\r\nProgressive cataract is a feature of Norrie Disease (Genereviews, OMIM)",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:30:36.791680+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDP as ready",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:30:36.781892+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndp has been classified as Green List (High Evidence).",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:30:34.387734+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDP were changed from to Norrie disease (MIM# 310600)",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:30:12.608003+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:29:18.348919+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:29:18.338998+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fktn has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:29:16.500686+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKTN were changed from to Limb Girdle Muscular Dystrophy with No Mental Retardation; Congenital Cataract",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:28:51.442718+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FKTN were set to ",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:28:30.895323+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:28:09.980019+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FKTN as Amber List (moderate evidence)",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:28:09.973433+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fktn has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:25:30.606021+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:25:30.598351+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:25:26.832567+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM#\t154700; Weill-Marchesani syndrome 2, dominant, MIM#\t608328",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:24:34.181079+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:23:55.993416+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESCO2 as ready",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:23:55.990152+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Phenotypic overlap.",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:23:55.965008+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:23:34.239567+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.147",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: PYCR1 was added\ngene: PYCR1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYCR1 were set to PMID: 19648921; 4076251; 22052856; 19576563; 19648921; 9648921; 22052856; 28294978; 27756598\nReview for gene: PYCR1 was set to GREEN\ngene: PYCR1 was marked as current diagnostic\nAdded comment: Variants in this gene are associated with Cutis Laxa:\r\nCutis laxa type 2 (ARCL2, [MIM 219200]) is an autosomal-recessive multisystem disorder with prominent connective-tissue features characterized by the appearance of premature aging, particularly wrinkled and lax skin with reduced elasticity.\r\n\r\nGEL PanelApp: Green in EDS panel - clinical features overlapping EDS\r\nCutis laxa, autosomal recessive, type IIIB (ARCL3B) PMID: 19648921,4076251, 22052856\r\nCutis laxa, autosomal recessive, type IIB (ARCL2B) PMID: 19576563, 19648921, 9648921, 22052856, 28294978 AR\r\n\r\nPMID: 27756598: a homozygous mutation in PYCR1 segregating in the family with the affected individuals with complex connective tissue disorder and severe intellectual disability. \nSources: Literature",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:23:13.791874+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESCO2 as ready",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:23:13.784153+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:23:10.227751+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESCO2 as Amber List (moderate evidence)",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:23:10.216647+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:21:47.441292+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NACC1 as ready",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:21:47.430832+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nacc1 has been classified as Green List (High Evidence).",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:21:44.904198+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NACC1 were changed from to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393)",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:21:19.745991+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:16:51.680456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3278",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "changed review comment from: Aortopathy/Connective tissue review\r\n\r\nVariants in this gene are associated with Cutis Laxa:\r\nCutis laxa type 2 (ARCL2, [MIM 219200]) is an autosomal-recessive multisystem disorder with prominent connective-tissue features characterized by the appearance of premature aging, particularly wrinkled and lax skin with reduced elasticity.\r\n\r\nGEL PanelApp: Green in EDS panel - clinical features overlapping EDS\r\nCutis laxa, autosomal recessive, type IIIB (ARCL3B) PMID: 19648921,4076251, 22052856\r\nCutis laxa, autosomal recessive, type IIB (ARCL2B) PMID: 19576563, 19648921, 9648921, 22052856, 28294978 AR\r\n\r\nPMID: 27756598: a homozygous mutation in PYCR1 segregating in the family with the affected individuals with complex connective tissue disorder and severe intellectual disability.; to: Aortopathy/Connective tissue review\r\n\r\nVariants in this gene are associated with Cutis Laxa:\r\nCutis laxa type 2 (ARCL2, [MIM 219200]) is an autosomal-recessive multisystem disorder with prominent connective-tissue features characterized by the appearance of premature aging, particularly wrinkled and lax skin with reduced elasticity.\r\n\r\nGEL PanelApp: Green in EDS panel - clinical features overlapping EDS\r\nCutis laxa, autosomal recessive, type IIIB (ARCL3B) PMID: 19648921,4076251, 22052856\r\nCutis laxa, autosomal recessive, type IIB (ARCL2B) PMID: 19576563, 19648921, 9648921, 22052856, 28294978 AR\r\n\r\nPMID: 27756598: a homozygous mutation in PYCR1 segregating in the family with the affected individuals with complex connective tissue disorder and severe intellectual disability.",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:16:14.120133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3278",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PYCR1 as ready",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:16:14.111772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3278",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pycr1 has been classified as Green List (High Evidence).",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:16:06.206159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3278",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PYCR1 were changed from to cutis laxa",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:15:47.664812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3277",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on publications: 19648921; 4076251; 22052856; 19576563; 19648921; 9648921; 22052856; 28294978; 27756598",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:15:47.637317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3277",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: PYCR1 were set to ",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:15:27.711718+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.34",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22503279, 21377155, 16959810; Phenotypes: Mullerian aplasia and hyperandrogenism (MIM#158330); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:15:20.843280+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3276",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: PYCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:14:25.154452+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIEZO2 as ready",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:14:25.143001+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:14:17.460199+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIEZO2 as Amber List (moderate evidence)",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:14:17.453322+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:11:44.742285+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIN2 as ready",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:11:44.732055+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rin2 has been classified as Green List (High Evidence).",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:11:42.039312+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIN2 as Green List (high evidence)",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:11:42.028811+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rin2 has been classified as Green List (High Evidence).",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:10:44.210416+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.145",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: COL6A2 as ready",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:10:44.200165+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.145",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: col6a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:10:43.908636+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A3 as ready",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:10:43.898673+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:10:39.713892+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL6A3 as Amber List (moderate evidence)",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:10:39.706813+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:10:17.299826+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.144",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: COL6A2 as Amber List (moderate evidence)",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:10:17.289209+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.144",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: col6a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:10:13.468243+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:09:49.536377+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.143",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:09:36.459705+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP4 as ready",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:09:36.451843+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp4 has been classified as Green List (High Evidence).",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:09:33.683913+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LTBP4 as Green List (high evidence)",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:09:33.675911+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp4 has been classified as Green List (High Evidence).",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:08:59.116136+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GORAB as ready",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:08:59.108182+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gorab has been classified as Amber List (Moderate Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:08:56.304154+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GORAB as Amber List (moderate evidence)",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:08:56.296303+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gorab has been classified as Amber List (Moderate Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:07:43.683702+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A1 as ready",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:07:43.676375+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:07:38.816245+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL6A1 as Amber List (moderate evidence)",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:07:38.806211+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:07:14.562683+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:03:55.489814+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1A as ready",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:03:55.482010+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1a has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:03:32.028325+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V1A as Green List (high evidence)",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:03:32.018315+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1a has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-07-08T16:02:12.338174+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.180",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796; Phenotypes: Nance-Horan syndrome (MIM# 302350); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2020-07-08T15:48:42.631157+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.180",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2 (MIM# 101000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2020-07-08T15:42:27.394832+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.34",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24549039, 27899157, 31962012, 12223418; Phenotypes: 46XY sex reversal 9 (MIM#616067); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2020-07-08T15:41:36.694390+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.180",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease (MIM# 310600); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:51:04.341314+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.180",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 18177472, 17878207; Phenotypes: Limb Girdle Muscular Dystrophy with No Mental Retardation, Congenital Cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:40:00.443778+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.180",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26833294; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:26:39.221303+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.180",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:14:56.987769+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.180",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ESCO2 was added\ngene: ESCO2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESCO2 were set to 19574259\nPhenotypes for gene: ESCO2 were set to Craniofacial abnormalities; Developmental Delay; Corneal opacities; Growth retardation; Limb abnormalities; Roberts syndrome 238300\nReview for gene: ESCO2 was set to AMBER\nAdded comment: Corneal opacities described in 13/36 cases with Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2. \nSources: Literature",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:03:21.325934+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCB1 as ready",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:03:21.316927+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb1 has been classified as Green List (High Evidence).",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:03:18.256586+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB1 were changed from to Epileptic encephalopathy, early infantile, 12 (MIM#613722)",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:02:53.143229+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLCB1 were set to ",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:02:27.452288+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PLCB1.",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:02:24.656794+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:01:57.754125+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCB1 as ready",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:01:57.735798+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb1 has been classified as Green List (High Evidence).",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:01:29.913523+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB1 were changed from to Epileptic encephalopathy, early infantile, 12 (MIM#613722)",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:01:08.408341+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLCB1 were set to ",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:00:46.938324+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:00:26.368412+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PLCB1.",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:57:58.427721+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGY as ready",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:57:58.420264+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigy has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:57:54.790766+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGY were changed from to Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:57:30.928387+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGY were set to ",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:57:10.711618+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGY",
"entity_type": "gene"
}
]
}