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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=44",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=42",
"results": [
{
"created": "2026-02-05T13:21:40.166851+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.172",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:21:37.945982+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.172",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TARS2 as Amber List (moderate evidence)",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:21:37.939109+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.172",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:21:30.975673+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.171",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TARS2 was added\ngene: TARS2 was added to Monogenic Diabetes. Sources: Expert List\nMode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TARS2 were set to 39509107\nPhenotypes for gene: TARS2 were set to Combined oxidative phosphorylation defect type 21, MONDO:0014398\nReview for gene: TARS2 was set to AMBER\nAdded comment: 4 individuals diagnosed with diabetes (3 neonatal and 1 at 52 weeks) shared a rare homozygous missense variant c.980G>A, p.(Arg327Gln), in TARS2. One proband had epilepsy, one had development delay and two had both. On haplotype analysis, individuals 1, 3 and 4 shared a 1.8 Mb region (including TARS2), indicating inheritance from a common ancestor. Individual 2 did not share a haplotype. The reported variant is rare (9 alleles in gnomAD v4.1.0, no homozygotes); Revel score = 0.32, Uncertain. Authors hypothesise that homozygous missense variants specifically in the TARS2 301‐381aa region may impair binding of TARS2 to Rag GTPases and disrupt the mTORC1 signalling pathway, leading to β‐cell dysfunction. \nSources: Expert List",
"entity_name": "TARS2",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:14:31.561079+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.406",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Amber List (moderate evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:14:31.550600+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.406",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:12:26.697022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4243",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU6ATAC.",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:11:18.680845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4243",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:10:47.266524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4242",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Amber List (moderate evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:10:47.258988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4242",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:10:31.745588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4241",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RNU6ATAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal diabetes, humoral immunue defect, microcephaly, developmental delay.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:05:26.468507+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.170",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T13:04:14.106980+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.170",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene RNU4ATAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T13:04:14.001190+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.170",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services\nnon-coding gene tags were added to gene: RNU4ATAC.\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU4ATAC were set to 23794361; 26522830; 30455926; 29265708; 12605445\nPhenotypes for gene: RNU4ATAC were set to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:56:38.517370+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.169",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: DUT as ready",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:56:38.507154+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.169",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dut has been classified as Green List (High Evidence).",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:56:26.476836+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.169",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene DUT from panel Bone Marrow Failure",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T12:56:26.393532+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.169",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DUT was added\ngene: DUT was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DUT were set to 28073829; 35611808\nPhenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044)",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:54:31.641502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4241",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: STAT1 were changed from Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162 to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:53:55.173146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4240",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene STAT1 from panel Monogenic Diabetes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T12:52:31.315054+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.168",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: STAT1 were set to 23534974; 33027576",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:52:19.173648+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.167",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: STAT1 as Green List (high evidence)",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:52:19.163525+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.167",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: stat1 has been classified as Green List (High Evidence).",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:52:06.859298+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.166",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23534974, 27114460; Phenotypes: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:47:29.891209+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed was removed from gene: PLIN1.",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:46:46.674965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4239",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed was removed from gene: PLIN1.",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:29:35.488415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4239",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, MIM# 613877 to PLIN1-related familial partial lipodystrophy, MONDO:0013478",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:29:17.100080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4238",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: PLIN1 were set to 21345103; 31504636; 30020498; 25114292",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:28:34.569878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4237",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PLIN1 as Green List (high evidence)",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:28:34.562351+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4237",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: plin1 has been classified as Green List (High Evidence).",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:28:29.182046+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: PLIN1 were changed from PLIN1-related familial partial lipodystrophy, MONDO:0013478 to PLIN1-related familial partial lipodystrophy, MONDO:0013478",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:28:08.863102+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: PLIN1 were set to 21345103; 25114292; 29747582; 31504636; 11371650; 30020498",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:27:02.618231+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, MIM# 613877 to PLIN1-related familial partial lipodystrophy, MONDO:0013478",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:26:42.998766+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: PLIN1 were set to 21345103; 31504636; 30020498; 25114292",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:26:14.508976+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.30",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PLIN1 as Green List (high evidence)",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:26:14.501647+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.30",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: plin1 has been classified as Green List (High Evidence).",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:25:43.285039+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.166",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed was removed from gene: PLIN1.",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:19:58.935968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4236",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PLIN1 from panel Monogenic Diabetes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T12:19:47.072011+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.29",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PLIN1 from panel Monogenic Diabetes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-05T12:18:12.248792+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.166",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes to PLIN1-related familial partial lipodystrophy, MONDO:0013478",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:17:51.025353+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.165",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: PLIN1 were set to 11371650; 21345103; 25695774; 30020498",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:17:39.767999+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.164",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PLIN1 as Green List (high evidence)",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:17:39.757673+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.164",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: plin1 has been classified as Green List (High Evidence).",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:17:32.499714+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.163",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21345103, 25114292, 29747582, 31504636, 11371650; Phenotypes: PLIN1-related familial partial lipodystrophy, MONDO:0013478; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLIN1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:10:19.892892+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.163",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:10:15.142300+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.163",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:10:13.332155+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.163",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:10:02.445133+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.163",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: APPL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:09:02.798938+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.163",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen LIMITED (Jan 2026)\r\n\r\nhttps://search.clinicalgenome.org/CCID:009131; to: ClinGen LIMITED (Jan 2026)\r\nhttps://search.clinicalgenome.org/CCID:009131",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T12:08:54.626384+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.163",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: AKT2",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:30:04.459682+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.; to: Association with hypotrichosis: missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:29:46.985466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Association with IBD -- two families and a mouse model.; to: Comment when marking as ready: Association with IBD -- two families and a mouse model. GREEN for this MOI/association.",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:29:26.775536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Two families and a mouse model.; to: Comment when marking as ready: Association with IBD -- two families and a mouse model.",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:28:33.905453+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADAM17: Added comment: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.; Changed rating: RED; Changed publications: 38771644; Changed phenotypes: Hypotrichosis 16, MIM# 621490; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:27:39.204366+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAM17 as ready",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:27:39.193355+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam17 has been classified as Red List (Low Evidence).",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:27:32.011333+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAM17 was added\ngene: ADAM17 was added to Hair disorders. Sources: Literature\nMode of inheritance for gene: ADAM17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADAM17 were set to 38771644\nPhenotypes for gene: ADAM17 were set to Hypotrichosis 16, MIM#\t621490\nReview for gene: ADAM17 was set to RED\nAdded comment: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. \nSources: Literature",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:24:34.966442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to neurodevNeurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:24:18.511669+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:23:25.810322+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:22:49.264063+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDM2B: Changed phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:19:52.077592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:19:33.305773+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:19:03.288973+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:18:40.444021+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2026-02-05T08:17:59.203328+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2026-02-04T16:11:40.963076+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2026-02-04T16:11:17.625534+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX18: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2026-02-04T16:10:58.295244+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2026-02-04T16:10:12.669508+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2026-02-04T16:09:43.373783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2026-02-04T16:09:16.487888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2026-02-04T08:04:29.524278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4234",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: FOXH1 were changed from Congenital heart disease to Congenital heart disease",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2026-02-04T08:04:27.196063+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4234",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: FOXH1 were changed from Congenital heart disease to Congenital heart disease",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2026-02-04T08:04:19.405790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4233",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: FOXH1 were changed from Congenital heart disease; holoprosencephaly to Congenital heart disease",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2026-02-03T13:03:43.812918+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.650",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37448-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-03T13:03:43.046567+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.650",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37448-Loss was added\nRegion: ISCA-37448-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen\nMode of inheritance for Region: ISCA-37448-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37448-Loss were set to Chromosome 15q11.2 deletion syndrome, MIM#615656\nPenetrance for Region: ISCA-37448-Loss were set to Incomplete",
"entity_name": "ISCA-37448-Loss",
"entity_type": "region"
},
{
"created": "2026-02-03T10:51:34.839018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCA1 were set to 26740508; 26539891; 29249292; 37841849",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2026-02-03T10:51:15.640481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMARCA1: Added comment: Now published.; Changed publications: 37841849, 41213919",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2026-02-03T10:50:49.034342+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCA1 were set to 37841849",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2026-02-03T10:50:17.798012+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMARCA1: Added comment: Now published.; Changed publications: 37841849, 41213919",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2026-02-02T20:46:00.167994+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46299-Gain as ready",
"entity_name": "ISCA-46299-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:46:00.160059+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46299-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46299-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:45:40.913633+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46300-Loss as ready",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:45:40.907267+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46300-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:45:37.432379+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46300-Loss as Green List (high evidence)",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:45:37.421371+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46300-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:45:03.180445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46300-Loss as ready",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:45:03.170065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46300-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:44:55.798696+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46300-Loss as Green List (high evidence)",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:44:55.790905+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46300-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:44:35.743864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46300-Loss as ready",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:44:35.736973+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46300-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:44:27.746434+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46300-Loss as Green List (high evidence)",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:44:27.738683+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46300-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2026-02-02T20:43:47.978025+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46302-Gain as ready",
"entity_name": "ISCA-46302-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:43:47.968375+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46302-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46302-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:43:43.823915+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46302-Gain as Green List (high evidence)",
"entity_name": "ISCA-46302-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:43:43.817141+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46302-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46302-Gain",
"entity_type": "region"
},
{
"created": "2026-02-02T20:43:08.104847+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46304-Gain as ready",
"entity_name": "ISCA-46304-Gain",
"entity_type": "region"
}
]
}