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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=9",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=7",
"results": [
{
"created": "2026-03-26T20:56:29.933554+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.63",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: OPN1MW as Green List (high evidence)",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2026-03-26T20:56:29.922824+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.63",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: opn1mw has been classified as Green List (High Evidence).",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2026-03-26T20:55:54.992367+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.62",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene OPN1MW from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T20:55:21.337214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4643",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: OPN1MW as Green List (high evidence)",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2026-03-26T20:55:21.326912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4643",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: opn1mw has been classified as Green List (High Evidence).",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2026-03-26T20:55:03.248806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4642",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: Green rating for Colorblindness, deutan, MIM#303800\r\n\r\nOPN1MW is Definitively associated with OPN1MW-related cone dysfunction - classification was approved by the ClinGen Retina Gene Curation Expert Panel on September 4th, 2025. \r\n\r\nOPN1LW is definitively associated with OPN1LW-related cone dysfunction - classification was approved by the ClinGen Retina Gene Curation Expert Panel on September 4th, 2025.\r\n\r\n\"Per criteria outlined by the ClinGen Lumping & Splitting Working Group, diverse cases were compared and found to share an X-linked mode of inheritance and a degree of overlap in their phenotypes, but to differ in the mechanism of pathogenicity underlying deutan color blindness (monogenic OPN1MW loss-of-function) versus blue cone monochromacy (digenic OPN1MW and OPN1LW loss-of-function).\"; to: Green rating for Colorblindness, deutan, MIM#303800\r\n\r\nOPN1MW is Definitively associated with OPN1MW-related cone dysfunction - classification was approved by the ClinGen Retina Gene Curation Expert Panel on September 4th, 2025. \r\n\r\n\"Per criteria outlined by the ClinGen Lumping & Splitting Working Group, diverse cases were compared and found to share an X-linked mode of inheritance and a degree of overlap in their phenotypes, but to differ in the mechanism of pathogenicity underlying deutan color blindness (monogenic OPN1MW loss-of-function) versus blue cone monochromacy (digenic OPN1MW and OPN1LW loss-of-function).\"",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2026-03-26T20:54:51.540958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4642",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: OPN1MW: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorblindness, deutan, MIM#303800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2026-03-26T20:50:02.188670+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.61",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: OPN1LW as Green List (high evidence)",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2026-03-26T20:50:02.178141+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.61",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: opn1lw has been classified as Green List (High Evidence).",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2026-03-26T20:49:26.153768+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.60",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene OPN1LW from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T20:48:25.022161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4642",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: OPN1LW as Green List (high evidence)",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2026-03-26T20:48:24.986060+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4642",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: opn1lw has been classified as Green List (High Evidence).",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2026-03-26T20:47:56.903242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4641",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: OPN1LW: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorblindness, protan, MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2026-03-26T19:33:04.664423+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.26",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene NRG1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T19:32:34.308703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4641",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Mode of inheritance for gene: NRG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2026-03-26T19:31:54.199701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4640",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Phenotypes for gene: NRG1 were changed from Hirschsprung disease, MONDO:0018309; Peripheral neuropathy MONDO:0005244 to Hirschsprung disease, susceptibility (MONDO:0100179), NRG1-related; Peripheral neuropathy MONDO:0005244",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2026-03-26T19:31:21.947777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4639",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: NRG1 were set to 22574178; 21706185; 28190554",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2026-03-26T19:30:26.034723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4638",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: NRG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33421311, 31240788; Phenotypes: Hirschsprung disease, susceptibility (MONDO:0100179), NRG1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2026-03-26T18:50:13.922327+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.393",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene NECAP1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T18:47:58.617816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4638",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: NECAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35638367; Phenotypes: Developmental and epileptic encephalopathy 21, MIM#615833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NECAP1",
"entity_type": "gene"
},
{
"created": "2026-03-26T17:27:08.005924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.548",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene MMP15 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T17:27:04.690723+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.10",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene MMP15 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T17:25:30.785792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4638",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: MMP15 were set to 33875846",
"entity_name": "MMP15",
"entity_type": "gene"
},
{
"created": "2026-03-26T17:25:13.273851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4637",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: MMP15: Rating: AMBER; Mode of pathogenicity: None; Publications: 36349822; Phenotypes: Progressive familial intrahepatic cholestasis, MONDO:0015762, MMP15-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP15",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:46:48.142820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4637",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PADI6 were set to 29693651; 33583041; 329228291; 33221824; 27545678",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:42:05.190486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4636",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NLRP5 were set to 32232222962; 31829238; 30877238; 26323243; 34440388",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:40:05.536344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4635",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: AMELX were set to 17189466; 22243263; 7599636; 23251683; 1483698 1916828; 9188994; 15111628; 11201048; 26502894; 7782077; 11922869; 28130977; 8406474; 11839357; 25117480; 19610109",
"entity_name": "AMELX",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:27:30.566295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4634",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ZBTB26 as ready",
"entity_name": "ZBTB26",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:27:30.555593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4634",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zbtb26 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB26",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:26:53.652180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4634",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ZBTB26 from panel Congenital hypothyroidism",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T16:26:52.444171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4634",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ZBTB26 was added\ngene: ZBTB26 was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ZBTB26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZBTB26 were set to 34946811\nPhenotypes for gene: ZBTB26 were set to Congenital hypothyroidism MONDO:0018612",
"entity_name": "ZBTB26",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:26:33.612203+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.117",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ZBTB26 as ready",
"entity_name": "ZBTB26",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:26:33.604862+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.117",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zbtb26 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB26",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:26:31.071682+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.117",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZBTB26 as Green List (high evidence)",
"entity_name": "ZBTB26",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:26:31.061440+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.117",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zbtb26 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB26",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:26:24.988975+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.116",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ZBTB26 was added\ngene: ZBTB26 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: ZBTB26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZBTB26 were set to 34946811\nPhenotypes for gene: ZBTB26 were set to Congenital hypothyroidism MONDO:0018612\nReview for gene: ZBTB26 was set to GREEN\nAdded comment: PMID 34946811 reports 3 individuals from 3 unrelated families with heterozygous ZBTB26 variants (2 x missense and 1 x splice‑proximal) presenting with congenital primary hypothyroidism. De novo status confirmed for 1 patient but parental status unavailable for 2 patients. Xenopus loss‑of‑function studies recapitulated the phenotype and were rescued by wild‑type mRNA, supporting a loss‑of‑function mechanism. \nSources: Literature",
"entity_name": "ZBTB26",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:22:09.461843+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.115",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: UBR7 as ready",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:22:09.449766+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.115",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ubr7 has been classified as Green List (High Evidence).",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:21:54.891206+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.115",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene UBR7 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T16:21:54.819657+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.115",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: UBR7 was added\ngene: UBR7 was added to Congenital hypothyroidism. Sources: Expert Review Green,Literature\nMode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBR7 were set to 33340455\nPhenotypes for gene: UBR7 were set to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:09:42.980000+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.392",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: MICAL1 were set to 29394500; 21638339; 38705457",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:09:26.371963+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.391",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: MICAL1 were set to 29394500; 21638339; 38705457",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:09:01.698951+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.391",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: MICAL1 were set to 29394500; 21638339; 38705457",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:08:43.861297+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.391",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: MICAL1 were set to 29394500; 21638339",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:07:56.833645+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.114",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TANGO2 as ready",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:07:56.826590+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.114",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:07:54.616169+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.114",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: TANGO2 were set to 26805782; 30245509",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:07:41.675979+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.113",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:07:38.823118+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.113",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: TANGO2: Added comment: hypothyroidism noted in 12/20 (PMID: 32929747) and 31/65 (PMID: 36473599) patients but unclear of age of onset.; Changed rating: AMBER; Changed publications: 36473599 32929747",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:07:14.366547+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.113",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TANGO2 as Amber List (moderate evidence)",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:07:14.359099+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.113",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:07:08.793294+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.112",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TANGO2 as Red List (low evidence)",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:07:08.782431+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.112",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Red List (Low Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:07:03.192434+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.111",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: None; Publications: 36473599, 32929747; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T16:02:56.808372+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.390",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene MICAL1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T15:59:06.064493+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLX5 as ready",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:59:06.057360+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlx5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:59:02.167419+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLX5 as Amber List (moderate evidence)",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:59:02.157310+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlx5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:58:53.892848+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.111",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene TANGO2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T15:58:53.825453+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.111",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TANGO2 was added\ngene: TANGO2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TANGO2 were set to 26805782; 30245509\nPhenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:58:26.228344+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLX5 was added\ngene: DLX5 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLX5 were set to 41760400; 22121204\nPhenotypes for gene: DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss, MIM# \t220600\nReview for gene: DLX5 was set to AMBER\nAdded comment: Two families reported with bi-allelic variants and SHFM/SNHL. \nSources: Literature",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:58:05.709914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4633",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: MICAL1 were set to 29394500; 21638339",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:57:32.049239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4632",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: MICAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38705457, 29394500; Phenotypes: Epilepsy, MONDO:0005027, MICAL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:54:27.710084+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.110",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:54:27.702951+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.110",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:54:21.751210+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.110",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: SGPL1 were set to 33074640",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:54:09.997080+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLX5 were set to 22121204; 24496061; 25196357; 20534536; 12112878",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:54:01.700202+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.109",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35904228, 35748945, 32322566, 28165343, 38204317; Phenotypes: Sphingosine phosphate lyase insufficiency syndrome (SPLIS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:53:53.048177+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 41760400; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:53:31.539641+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLX5 as ready",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:53:31.529720+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlx5 has been classified as Green List (High Evidence).",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:53:22.103458+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLX5 were set to ",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:52:46.456442+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLX5: Added comment: PMID 41760400 adds a new family with a homozygous nonsense DLX5 variant c.97G>T (NM_005221.6) causing autosomal recessive split‑hand/foot malformation type 1D (SHFM1D) accompanied by hypospadias, sensorineural hearing loss and atrial septal defect; Changed publications: 41760400",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:52:28.151367+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLX5 as ready",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:52:28.140976+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlx5 has been classified as Green List (High Evidence).",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:52:23.112427+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLX5 were set to 27085093",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:51:33.742778+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLX5: Added comment: PMID 41760400 adds a new family with a homozygous nonsense DLX5 variant c.97G>T (NM_005221.6) causing autosomal recessive split‑hand/foot malformation type 1D (SHFM1D) accompanied by hypospadias, sensorineural hearing loss and atrial septal defect; Changed publications: 41760400",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:51:03.414965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLX5 were set to 22121204; 24496061; 25196357; 20534536; 12112878",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:50:38.556101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLX5: Added comment: PMID 41760400 adds a new family with a homozygous nonsense DLX5 variant c.97G>T (NM_005221.6) causing autosomal recessive split‑hand/foot malformation type 1D (SHFM1D) accompanied by hypospadias, sensorineural hearing loss and atrial septal defect; Changed publications: 22121204, 24496061, 25196357, 20534536, 12112878, 41760400",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:46:15.100811+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.109",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene SGPL1 from panel Adrenal insufficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T15:46:15.021320+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.109",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SGPL1 was added\ngene: SGPL1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGPL1 were set to 33074640\nPhenotypes for gene: SGPL1 were set to RENI syndrome (MIM#617575)",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:41:25.453925+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.720",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:41:24.545239+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: RNPC3 as ready",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:41:24.533538+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Green List (High Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:41:12.804292+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.720",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNPC3 as Green List (high evidence)",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:41:12.777230+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.720",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Green List (High Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:40:50.630979+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.719",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNPC3 as Green List (high evidence)",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:40:50.621139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.719",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Green List (High Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:40:37.801791+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.719",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNPC3 as Green List (high evidence)",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:40:37.790064+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.719",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Green List (High Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:39:57.064549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4631",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:39:30.414834+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.101",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542; 33650182",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:39:06.349891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4630",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene RNPC3 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T15:38:51.629970+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.718",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene RNPC3 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T15:38:08.478246+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.100",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene RNPC3 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T15:38:08.077635+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene RNPC3 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T15:38:08.011498+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RNPC3 was added\ngene: RNPC3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNPC3 were set to 29866761; 32462814; 33650182; 37463572; 35792517; 34906446\nPhenotypes for gene: RNPC3 were set to Growth hormone deficiency; Intellectual disability",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:37:26.837166+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.199",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2026-03-26T15:36:51.204771+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37463572, 35792517, 34906446; Phenotypes: Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNPC3",
"entity_type": "gene"
}
]
}