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{
"count": 220489,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=83",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=81",
"results": [
{
"created": "2025-12-18T13:31:05.042776+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TE as ready",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:31:05.032647+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-te has been classified as Green List (High Evidence).",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:50.599209+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TE as ready",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:50.587675+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-te has been classified as Green List (High Evidence).",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:36.400737+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TE as ready",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:36.384978+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-te has been classified as Green List (High Evidence).",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:24.627626+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TE as ready",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:24.618084+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-te has been classified as Green List (High Evidence).",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:13.669782+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TE as ready",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:13.660252+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-te has been classified as Green List (High Evidence).",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:07.687872+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TG from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-18T13:30:07.592733+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TG was added\ngene: MT-TG was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TG.\nMode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL\nPublications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480\nPhenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related",
"entity_name": "MT-TG",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:05.953688+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TG from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-18T13:30:05.274579+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TG was added\ngene: MT-TG was added to Ataxia. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TG.\nMode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL\nPublications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480\nPhenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related",
"entity_name": "MT-TG",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:00.914372+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TD as ready",
"entity_name": "MT-TD",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:30:00.901083+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-td has been classified as Green List (High Evidence).",
"entity_name": "MT-TD",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:29:05.401401+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TE from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-18T13:29:05.303253+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TE was added\ngene: MT-TE was added to Stroke. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TE.\nMode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL\nPublications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256\nPhenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:29:04.964536+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TE from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-18T13:29:04.799993+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TE was added\ngene: MT-TE was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TE.\nMode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL\nPublications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256\nPhenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:28:46.022223+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TE from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-18T13:28:45.889265+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TE was added\ngene: MT-TE was added to Retinitis pigmentosa. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TE.\nMode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL\nPublications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256\nPhenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:28:43.648374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.512",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TE from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-18T13:28:43.270854+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TE was added\ngene: MT-TE was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TE.\nMode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL\nPublications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256\nPhenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:28:00.686540+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TE from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-18T13:28:00.417445+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TE was added\ngene: MT-TE was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TE.\nMode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL\nPublications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256\nPhenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:27:06.391009+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.305",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TE from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-18T13:27:06.167421+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TE was added\ngene: MT-TE was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TE.\nMode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL\nPublications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256\nPhenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:26:29.085494+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TE from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-18T13:26:28.923330+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TE was added\ngene: MT-TE was added to Ataxia. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TE.\nMode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL\nPublications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256\nPhenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related",
"entity_name": "MT-TE",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:25:14.393155+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TD from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-18T13:25:14.244439+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TD was added\ngene: MT-TD was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TD.\nMode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL\nPublications for gene: MT-TD were set to 9811342; 10488907; 16059939; 18676632; 23696415; 25447692; 27536005; 30030363; 3054486; 19535463\nPhenotypes for gene: MT-TD were set to Mitochondrial disease (MONDO:0044970), MT-TD-related",
"entity_name": "MT-TD",
"entity_type": "gene"
},
{
"created": "2025-12-18T13:24:44.934004+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MT-TD: Predominantly reported with mitochondrial myopathy.",
"entity_name": "MT-TD",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:54:58.430192+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMX2 as Red List (low evidence)",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:54:58.421899+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emx2 has been classified as Red List (Low Evidence).",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:54:17.107705+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EMX2: Changed rating: RED",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:53:34.733200+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMX2 as Red List (low evidence)",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:53:34.724949+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emx2 has been classified as Red List (Low Evidence).",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:52:35.400698+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EMX2: Changed rating: RED",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:52:11.487266+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMX2 as Red List (low evidence)",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:52:11.475812+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emx2 has been classified as Red List (Low Evidence).",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:51:22.074701+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EMX2: Changed rating: RED",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:51:04.163860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EMX2: Changed rating: RED",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:50:40.340253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMX2 as Red List (low evidence)",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:50:40.330059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emx2 has been classified as Red List (Low Evidence).",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:50:03.765172+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMX2 as Red List (low evidence)",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T09:50:03.754593+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emx2 has been classified as Red List (Low Evidence).",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2025-12-18T08:08:21.410706+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-12-18T08:07:55.882393+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRNKL1 were changed from complex neurodevelopmental disorder MONDO:0100038 CRNKL1-related to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-12-18T08:07:24.749916+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-12-18T08:07:01.744980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRNKL1 were changed from complex neurodevelopmental disorder MONDO:0100038 to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-12-18T08:06:43.196762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-12-18T08:06:24.610655+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRNKL1 were changed from complex neurodevelopmental disorder MONDO:0100038 to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-12-18T08:05:56.855255+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-12-18T08:05:39.191897+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRNKL1 were changed from Complex neurodevelopmental disorder, CRNKL1-related - MONDO:0100038 to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-12-18T08:05:04.679559+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-12-17T18:39:17.741891+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPK1 as ready",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2025-12-17T18:39:17.731421+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpk1 has been classified as Green List (High Evidence).",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:32:23.873170+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNTA1 as ready",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:32:23.865331+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snta1 has been classified as Red List (Low Evidence).",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:32:19.400791+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNTA1 as Red List (low evidence)",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:32:19.389657+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snta1 has been classified as Red List (Low Evidence).",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:32:00.468379+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNTA1 as ready",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:32:00.450775+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snta1 has been classified as Red List (Low Evidence).",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:31:55.642538+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNTA1 were changed from Long QT syndrome to Long QT syndrome 12 MIM#612955",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:31:26.317033+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNTA1 as Red List (low evidence)",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:31:26.306451+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snta1 has been classified as Red List (Low Evidence).",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:31:18.086643+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SNTA1.",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:31:09.606626+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 12 MIM#612955; Mode of inheritance: None",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:28:58.843017+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHAF2 as ready",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:28:58.833082+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:28:55.968199+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHAF2 were changed from Hereditary Paraganglioma-Pheochromocytoma Syndromes to Paragangliomas 2, MIM# 601650",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:28:42.002437+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:26:12.182919+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM20 as ready",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:26:12.172480+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:26:06.822403+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBM20 were changed from Cardiomyopathy, dilated, 1DD to Cardiomyopathy, dilated, 1DD, MIM# 613172 AD",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:25:53.303815+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: DEFINITIVE association with DCM. Not assessed for actionability by ClinGen yet.; to: DEFINITIVE association with DCM. Not assessed for actionability by ClinGen yet. Not suitable for gNBS.",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:25:44.658131+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1DD, MIM# 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:21:34.911244+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYLK as ready",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:21:34.901161+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:21:30.553439+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7 to Aortic aneurysm, familial thoracic 7, MIM#613780",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:21:17.715552+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: STRONG by ClinGen in terms of gene-disease relationship but not assessed for actionability yet.; to: STRONG by ClinGen in terms of gene-disease relationship but not assessed for actionability yet. Not suitable for gNBS.",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:21:05.395426+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM#613780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:19:45.017248+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYL3 as ready",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:19:45.000750+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:19:42.111837+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYL3 were changed from Cardiomyopathy, familial hypertrophic, 8 to Cardiomyopathy, hypertrophic, 8, MIM# 608751",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:18:34.410327+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Not assessed by ClinGen Paed Actionability Group yet.; to: DEFINITIVE association with HCM. Not assessed by ClinGen Paed Actionability Group yet. Not suitable for gNBS.",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:17:58.569760+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYL3: Changed phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:17:26.769432+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYL3: Changed rating: AMBER",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2025-12-17T17:17:20.153713+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MYL3",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:57:06.646567+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37421-Loss as ready",
"entity_name": "ISCA-37421-Loss",
"entity_type": "region"
},
{
"created": "2025-12-17T16:57:06.640024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37421-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37421-Loss",
"entity_type": "region"
},
{
"created": "2025-12-17T16:56:46.168352+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37423-Gain as ready",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2025-12-17T16:56:46.161971+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37423-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2025-12-17T16:56:40.499228+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for Region: ISCA-37423-Gain were set to 26097203; 25520754",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2025-12-17T16:55:34.973303+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37423-Gain as ready",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2025-12-17T16:55:34.962112+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37423-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2025-12-17T16:55:15.997009+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37423-Gain as ready",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2025-12-17T16:55:15.987563+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37423-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2025-12-17T16:50:45.311423+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
}
]
}