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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=20",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=18",
"results": [
{
"created": "2026-03-17T11:37:21.906607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPOT was added\ngene: XPOT was added to Mendeliome. Sources: Literature\npreprint tags were added to gene: XPOT.\nMode of inheritance for gene: XPOT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XPOT were set to 10.64898/2026.01.28.26344748\nPhenotypes for gene: XPOT were set to Syndromic disease, MONDO:0002254\nReview for gene: XPOT was set to GREEN\nAdded comment: Preprint by Von Hardenberg et al 2026 reports 8 individuals from 5 unrelated families with biallelic loss‑of‑function XPOT variants presenting with childhood‑onset severe sensorineural hearing loss, recurrent infections/bronchiectasis, developmental delay and growth retardation. Functional studies show absent XPOT protein in patient fibroblasts, reduced TNF‑α translation, and xpot‑deficient zebrafish recapitulating the multisystem phenotype.\r\n\r\nAll reported variants are homozygous. \nSources: Literature",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:24:04.859512+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR59 as ready",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:24:04.849285+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr59 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:23:54.778195+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR59 as ready",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:23:54.770937+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr59 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:23:35.173856+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR59 as ready",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:23:35.163872+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr59 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:18:54.566841+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TTN: Added comment: No evidence for association with rhabdomyolysis.; Changed rating: RED; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2026-03-17T08:33:21.672896+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.59",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22945801; Phenotypes: Cardiomyopathy, dilated, 2I MIM#620462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2026-03-16T13:21:24.018106+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.126",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: OTUD3 was added\ngene: OTUD3 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: OTUD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OTUD3 were set to PMID: 41067575\nPhenotypes for gene: OTUD3 were set to Ulcerative colitis\nReview for gene: OTUD3 was set to AMBER\nAdded comment: Multigenerational family with a medically refractory colitis phenotype permitted identification of the A143T missense mutation in OTUD3 as the causal variant. Murine model replicating phenotype and demonstrating impaired intestinal barrier function.\r\nAmber for single kindred. \nSources: Literature",
"entity_name": "OTUD3",
"entity_type": "gene"
},
{
"created": "2026-03-16T12:23:02.724891+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.46",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CTLA4 from panel Disorders of immune dysregulation",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-16T12:23:02.377364+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.46",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CTLA4 was added\ngene: CTLA4 was added to Autoinflammatory Disorders. Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services\nMode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTLA4 were set to 25213377; 25329329; 30377434\nPhenotypes for gene: CTLA4 were set to Autoimmune lymphoproliferative syndrome, type V, MIM# 616100",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2026-03-16T12:22:57.454858+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.46",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CTLA4 as ready",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2026-03-16T12:22:57.444260+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.46",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ctla4 has been classified as Green List (High Evidence).",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2026-03-16T12:22:21.700631+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.46",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CTLA4 from panel Autoimmune Lymphoproliferative Syndrome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-16T12:22:21.529591+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.46",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CTLA4 was added\ngene: CTLA4 was added to Autoinflammatory Disorders. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTLA4 were set to 39060684; 38302222\nPhenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2026-03-16T12:20:28.750991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4541",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHA7 were changed from Cleft lip and palate to Cleft lip/palate MONDO:0016044, PLEKHA7-related",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2026-03-16T11:06:07.919388+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYL4 as ready",
"entity_name": "MYL4",
"entity_type": "gene"
},
{
"created": "2026-03-16T11:06:07.909939+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYL4",
"entity_type": "gene"
},
{
"created": "2026-03-16T11:05:25.530744+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP155 as ready",
"entity_name": "NUP155",
"entity_type": "gene"
},
{
"created": "2026-03-16T11:05:25.520563+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup155 has been classified as Red List (Low Evidence).",
"entity_name": "NUP155",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:51:40.315818+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.699",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene WDR59 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:51:39.953061+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR59 was added\ngene: WDR59 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nfounder tags were added to gene: WDR59.\nMode of inheritance for gene: WDR59 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR59 were set to 41715954\nPhenotypes for gene: WDR59 were set to Syndromic disease, MONDO:0002254",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:50:56.491801+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.631",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene WDR59 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:50:56.341383+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR59 was added\ngene: WDR59 was added to Cataract. Sources: Expert Review Amber,Literature\nfounder tags were added to gene: WDR59.\nMode of inheritance for gene: WDR59 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR59 were set to 41715954\nPhenotypes for gene: WDR59 were set to Syndromic disease, MONDO:0002254",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:50:15.575303+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene WDR59 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:50:15.485556+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR59 was added\ngene: WDR59 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Amber,Literature\nfounder tags were added to gene: WDR59.\nMode of inheritance for gene: WDR59 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR59 were set to 41715954\nPhenotypes for gene: WDR59 were set to Syndromic disease, MONDO:0002254",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:49:50.119467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR59 as ready",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:49:50.093255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr59 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:49:41.644551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR59 as Amber List (moderate evidence)",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:49:41.635413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr59 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:49:23.133808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR59 was added\ngene: WDR59 was added to Mendeliome. Sources: Literature\nfounder tags were added to gene: WDR59.\nMode of inheritance for gene: WDR59 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR59 were set to 41715954\nPhenotypes for gene: WDR59 were set to Syndromic disease, MONDO:0002254\nReview for gene: WDR59 was set to AMBER\nAdded comment: PMID 41715954 reports six individuals from four unrelated families with biallelic WDR59 variants causing early‑onset autosomal recessive syndromic dilated cardiomyopathy, cataract, facial dysmorphism, growth retardation and developmental delay. Three Saudi families share the homozygous missense founder variant c.2887G>A (p.Gly963Arg) and a French family carries compound heterozygous intronic splice‑site variants; RNA‑seq shows aberrant splicing and reduced WDR59 expression, supporting loss‑of‑function. Segregation data confirm recessive inheritance, making WDR59 a diagnostic‑grade gene.\r\n\r\nFounder variant accounts for three of four families, hence Amber rating \nSources: Literature",
"entity_name": "WDR59",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:47:57.809012+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WAPL as ready",
"entity_name": "WAPL",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:47:57.799546+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wapl has been classified as Green List (High Evidence).",
"entity_name": "WAPL",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:44:28.334663+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.698",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene WAPL from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:44:25.151426+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WAPL was added\ngene: WAPL was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\npreprint tags were added to gene: WAPL.\nMode of inheritance for gene: WAPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WAPL were set to 10.64898/2026.02.23.26346364; 30158690\nPhenotypes for gene: WAPL were set to complex neurodevelopmental disorder, MONDO:0100038",
"entity_name": "WAPL",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:43:20.944923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WAPL as ready",
"entity_name": "WAPL",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:43:20.913025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wapl has been classified as Green List (High Evidence).",
"entity_name": "WAPL",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:43:13.649652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WAPL as Green List (high evidence)",
"entity_name": "WAPL",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:43:13.639703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wapl has been classified as Green List (High Evidence).",
"entity_name": "WAPL",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:42:58.934708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WAPL was added\ngene: WAPL was added to Mendeliome. Sources: Literature\npreprint tags were added to gene: WAPL.\nMode of inheritance for gene: WAPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WAPL were set to 10.64898/2026.02.23.26346364; 30158690\nPhenotypes for gene: WAPL were set to complex neurodevelopmental disorder, MONDO:0100038\nReview for gene: WAPL was set to GREEN\nAdded comment: PMID 30158690 reports a single de novo missense WAPL variant in a patient with mild CdLS‑like cohesinopathy, while a preprint (Boone et al 2026) describes 27 unrelated individuals with heterozygous loss‑of‑function or damaging missense WAPL variants presenting with a neurodevelopmental syndrome (developmental delay/intellectual disability, facial dysmorphism, congenital anomalies such as clubfoot). Combined, the two studies provide 28 unrelated families supporting WAPL haploinsufficiency as a cause of a complex neurodevelopmental disorder, with mouse and iPSC functional data corroborating pathogenicity. \nSources: Literature",
"entity_name": "WAPL",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:40:00.420492+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFDP3 as ready",
"entity_name": "TFDP3",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:40:00.411627+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfdp3 has been classified as Green List (High Evidence).",
"entity_name": "TFDP3",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:39:48.902435+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TFDP3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:39:48.828424+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFDP3 was added\ngene: TFDP3 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: TFDP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TFDP3 were set to 41634254\nPhenotypes for gene: TFDP3 were set to Infertility disorder, MONDO:0005047, TFDP3-related",
"entity_name": "TFDP3",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:39:35.307233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFDP3 as ready",
"entity_name": "TFDP3",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:39:35.300769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfdp3 has been classified as Green List (High Evidence).",
"entity_name": "TFDP3",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:39:26.516658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TFDP3 as Green List (high evidence)",
"entity_name": "TFDP3",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:39:26.510032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfdp3 has been classified as Green List (High Evidence).",
"entity_name": "TFDP3",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:39:09.094580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFDP3 was added\ngene: TFDP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TFDP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TFDP3 were set to 41634254\nPhenotypes for gene: TFDP3 were set to Infertility disorder, MONDO:0005047, TFDP3-related\nReview for gene: TFDP3 was set to GREEN\nAdded comment: PMID 41634254 reports 8 individuals from 7 families with X‑linked hemizygous TFDP3 loss‑of‑function variants presenting with severe oligoasthenoteratozoospermia. Affected males have dramatically reduced sperm concentration, motility, and abnormal morphology. Functional studies show reduced TFDP3 protein in patient sperm and recapitulation of the infertility phenotype in TFDP3 knock‑down cynomolgus monkeys with increased E2F1‑mediated apoptosis. \nSources: Literature",
"entity_name": "TFDP3",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:37:59.165201+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPA2 as ready",
"entity_name": "RPA2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:37:59.157501+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpa2 has been classified as Red List (Low Evidence).",
"entity_name": "RPA2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:37:48.638070+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPA2 as ready",
"entity_name": "RPA2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:37:48.631418+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpa2 has been classified as Red List (Low Evidence).",
"entity_name": "RPA2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:37:37.211877+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RPA2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:37:37.069351+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPA2 was added\ngene: RPA2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Literature\nMode of inheritance for gene: RPA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RPA2 were set to 41703052; 39231615\nPhenotypes for gene: RPA2 were set to Telomere syndrome, MONDO:0100137, RPA2-related",
"entity_name": "RPA2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:36:57.974035+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RPA2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:36:57.805508+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPA2 was added\ngene: RPA2 was added to Bone Marrow Failure. Sources: Expert Review Red,Literature\nMode of inheritance for gene: RPA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RPA2 were set to 41703052; 39231615\nPhenotypes for gene: RPA2 were set to Telomere syndrome, MONDO:0100137, RPA2-related",
"entity_name": "RPA2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:35:50.090578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPA2 as ready",
"entity_name": "RPA2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:35:50.083938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpa2 has been classified as Red List (Low Evidence).",
"entity_name": "RPA2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:35:32.743277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPA2 was added\ngene: RPA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RPA2 were set to 41703052; 39231615\nPhenotypes for gene: RPA2 were set to Telomere syndrome, MONDO:0100137, RPA2-related\nReview for gene: RPA2 was set to RED\nAdded comment: PMID 41703052 reports a 6‑year‑old individual from a consanguineous family who is homozygous for the splice‑site variant c.409‑2A>G (p.Q136_K138del). The patient presented with early‑onset bone‑marrow failure, immunodeficiency, microcephaly, dysmorphic features and severely short telomeres. The heterozygous parents are asymptomatic carriers. Functional studies showed ~50% reduction of RPA2 protein, destabilization of the OB‑fold ssDNA‑binding groove, impaired telomere binding, severe telomere shortening, increased telomere variant repeats and chromosome end‑to‑end fusions, supporting a loss‑of‑function mechanism.\r\n\r\nPMID 39231615 reports 2 individuals from 2 unrelated families with a heterozygous missense variant c.767A>G (p.Y256C) presenting with adult‑onset telomere biology disorder characterized by pleuroparenchymal fibroelastosis/interstitial lung disease, short telomeres, bone‑marrow failure (macrocytic anemia, myelodysplastic syndrome), liver disease and osteoporosis. Variant is ultra‑rare (gnomAD v4 1 het) and predicted deleterious. Functional studies (RPE1 knock‑in cell lines, RFWD3 interaction and ubiquitination assays, ATR signaling, telomere length assays, and a mouse model lethal in homozygous state) demonstrate loss‑of‑function effects, supporting pathogenicity. Both patients acquired, in a subset of blood cells, somatic genetic rescue events in either POT1 genes or TERT promoters known to counteract the accelerated telomere shortening. \nSources: Literature",
"entity_name": "RPA2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:29:05.019660+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C17orf80 as ready",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:29:05.012606+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c17orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:28:53.307727+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C17orf80 as ready",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:28:53.300771+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c17orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:28:35.139253+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C17orf80 as ready",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:28:35.128429+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c17orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:26:39.409507+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C17orf80 as ready",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:26:39.399579+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c17orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:26:26.572676+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD51AP2 as ready",
"entity_name": "RAD51AP2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:26:26.562192+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51ap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAD51AP2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:26:16.380534+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RAD51AP2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:26:16.306865+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD51AP2 was added\ngene: RAD51AP2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: RAD51AP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAD51AP2 were set to 41644825; 36153927\nPhenotypes for gene: RAD51AP2 were set to Infertility disorder, MONDO:0005047, RAD51AP2-related",
"entity_name": "RAD51AP2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:25:59.572124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD51AP2 as ready",
"entity_name": "RAD51AP2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:25:59.562274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51ap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAD51AP2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:25:52.372359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAD51AP2 as Amber List (moderate evidence)",
"entity_name": "RAD51AP2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:25:52.359737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51ap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAD51AP2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:23:27.998462+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene C17orf80 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:23:27.712198+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C17orf80 was added\ngene: C17orf80 was added to Mitochondrial disease. Sources: Expert Review Amber,Literature\nnew gene name tags were added to gene: C17orf80.\nMode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf80 were set to 41720819\nPhenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:22:47.860573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD51AP2 was added\ngene: RAD51AP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAD51AP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAD51AP2 were set to 41644825; 36153927\nPhenotypes for gene: RAD51AP2 were set to Infertility disorder, MONDO:0005047, RAD51AP2-related\nReview for gene: RAD51AP2 was set to AMBER\nAdded comment: PMID 41644825 reports one male patient from a Turkish consanguineous family and PMID 36153927 reports two brothers from an unrelated family; together three individuals from two unrelated families carry biallelic loss‑of‑function RAD51AP2 variants and present with non‑obstructive azoospermia and meiotic arrest. Both studies demonstrate autosomal recessive inheritance, and a mouse Rad51ap2 knockout recapitulates the infertility phenotype, providing functional support for causality. \nSources: Literature",
"entity_name": "RAD51AP2",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:22:31.727979+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.697",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene C17orf80 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:22:31.376864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C17orf80 was added\ngene: C17orf80 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nnew gene name tags were added to gene: C17orf80.\nMode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf80 were set to 41720819\nPhenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:21:50.455918+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene C17orf80 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:21:50.182449+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C17orf80 was added\ngene: C17orf80 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature\nnew gene name tags were added to gene: C17orf80.\nMode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf80 were set to 41720819\nPhenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:21:22.286667+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:C17orf80 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:20:59.987728+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene C17orf80 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:20:59.812517+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C17orf80 was added\ngene: C17orf80 was added to Ataxia. Sources: Expert Review Amber,Literature\nnew gene name tags were added to gene: C17orf80.\nMode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf80 were set to 41720819\nPhenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:19:10.243838+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIWIL1 as ready",
"entity_name": "PIWIL1",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:19:10.233224+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piwil1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIWIL1",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:18:58.521395+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PIWIL1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T18:18:58.469904+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIWIL1 was added\ngene: PIWIL1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PIWIL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PIWIL1 were set to 41706354; 39122675; 37335463; 36379263; 33877510; 28552346\nPhenotypes for gene: PIWIL1 were set to Infertility disorder, MONDO:0005047, PIWIL1-related",
"entity_name": "PIWIL1",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:18:45.311985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIWIL1 as ready",
"entity_name": "PIWIL1",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:18:45.305130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piwil1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIWIL1",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:18:04.768038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIWIL1 as Amber List (moderate evidence)",
"entity_name": "PIWIL1",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:18:04.755037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piwil1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIWIL1",
"entity_type": "gene"
},
{
"created": "2026-03-13T18:17:18.865125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIWIL1 was added\ngene: PIWIL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PIWIL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PIWIL1 were set to 41706354; 39122675; 37335463; 36379263; 33877510; 28552346\nPhenotypes for gene: PIWIL1 were set to Infertility disorder, MONDO:0005047, PIWIL1-related\nReview for gene: PIWIL1 was set to AMBER\nAdded comment: PMID 28552346 reports three unrelated families with heterozygous PIWIL1 missense variants causing idiopathic azoospermia; mouse knock‑in and rescue experiments provide functional support. PMID 41706354 and PMID 39122675 describe two unrelated families with recessive loss‑of‑function PIWIL1 frameshift/stop‑gain variants leading to non‑obstructive azoospermia and spermatogenic arrest, confirmed by immunohistochemistry and piRNA profiling. PMID 37335463 identifies a compound‑heterozygous patient and four heterozygous carriers of rare missense/truncating PIWIL1 variants, and a Miwi R371W knock‑in mouse recapitulates subfertility. \nSources: Literature",
"entity_name": "PIWIL1",
"entity_type": "gene"
},
{
"created": "2026-03-13T17:31:06.419597+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C17orf80 as ready",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T17:31:06.412660+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c17orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C17orf80",
"entity_type": "gene"
},
{
"created": "2026-03-13T17:30:57.285724+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene C17orf80 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-13T17:30:57.218851+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C17orf80 was added\ngene: C17orf80 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nnew gene name tags were added to gene: C17orf80.\nMode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf80 were set to 41720819\nPhenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970",
"entity_name": "C17orf80",
"entity_type": "gene"
}
]
}