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{
"count": 220694,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=124",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=122",
"results": [
{
"created": "2025-11-20T15:45:31.014531+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.569",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:45:22.731663+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TUBA8.",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:45:16.713735+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:45:04.702732+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TUBA8.",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:44:59.770300+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:44:51.088871+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TUBA8.",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:44:45.612909+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:44:36.289194+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TUBA8.",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:44:30.391950+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:43:10.868277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3600",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene TEKT1 from panel Ciliary Dyskinesia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T15:43:10.249926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3600",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TEKT1 was added\ngene: TEKT1 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: TEKT1.\nMode of inheritance for gene: TEKT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TEKT1 were set to Primary ciliary dyskinesia, MONDO:0016575",
"entity_name": "TEKT1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:42:49.507857+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.66",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TEKT1 as ready",
"entity_name": "TEKT1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:42:49.499794+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.66",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tekt1 has been classified as Red List (Low Evidence).",
"entity_name": "TEKT1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:42:45.883661+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.66",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TEKT1 was added\ngene: TEKT1 was added to Ciliary Dyskinesia. Sources: ClinGen\ndisputed tags were added to gene: TEKT1.\nMode of inheritance for gene: TEKT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TEKT1 were set to Primary ciliary dyskinesia, MONDO:0016575\nReview for gene: TEKT1 was set to RED\nAdded comment: ClinGen DISPUTED - Mar 2025 \nSources: ClinGen",
"entity_name": "TEKT1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:39:38.294125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3599",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen DISPUTED - May 2025 \nSources: ClinGen; to: PCD - ClinGen DISPUTED - May 2025 \r\nSources: ClinGen",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:39:15.399626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3599",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene DNAH14 from panel Ciliary Dyskinesia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T15:38:50.090655+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: DNAH14 as ready",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:38:50.081284+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dnah14 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:38:40.757921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3598",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: AK7 as ready",
"entity_name": "AK7",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:38:40.751031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3598",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ak7 has been classified as Red List (Low Evidence).",
"entity_name": "AK7",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:37:30.404136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.470",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: DNAH6.",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:37:21.243064+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.44",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: DNAH6.",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:37:02.772780+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: DNAH6.",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:36:48.832480+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DNAH14 was added\ngene: DNAH14 was added to Ciliary Dyskinesia. Sources: ClinGen\ndisputed tags were added to gene: DNAH14.\nMode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH14 were set to Primary ciliary dyskinesia, MONDO:0016575\nReview for gene: DNAH14 was set to RED\nAdded comment: ClinGen DISPUTED - May 2025 \nSources: ClinGen",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:35:56.714362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3598",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene AK7 from panel Ciliary Dyskinesia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T15:35:55.530235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3598",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: AK7 was added\ngene: AK7 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: AK7.\nMode of inheritance for gene: AK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AK7 were set to Primary ciliary dyskinesia, MONDO:0016575",
"entity_name": "AK7",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:35:35.505888+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.64",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: AK7 as ready",
"entity_name": "AK7",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:35:35.495728+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.64",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ak7 has been classified as Red List (Low Evidence).",
"entity_name": "AK7",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:35:28.420135+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.64",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: AK7 was added\ngene: AK7 was added to Ciliary Dyskinesia. Sources: ClinGen\ndisputed tags were added to gene: AK7.\nMode of inheritance for gene: AK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AK7 were set to Primary ciliary dyskinesia, MONDO:0016575\nReview for gene: AK7 was set to RED\nAdded comment: ClinGen DISPUTED - Mar 2023 \nSources: ClinGen",
"entity_name": "AK7",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:29:23.565403+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:29:20.730937+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:29:12.914383+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: IGBP1.",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:29:05.331218+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.569",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: IGBP1.",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:29:00.804729+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:28:56.468544+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.569",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:28:32.294274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3597",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: IGBP1.",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:28:23.222328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3597",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:27:17.336533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3597",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ARHGEF6.",
"entity_name": "ARHGEF6",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:25:15.971252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3597",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene ARHGEF6 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T15:24:53.069673+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ARHGEF6.",
"entity_name": "ARHGEF6",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:24:45.648863+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic X-linked intellectual disability, MONDO:0019181; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARHGEF6",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:22:08.650597+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.74",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TTN as ready",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:22:08.639909+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.74",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ttn has been classified as Red List (Low Evidence).",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:22:04.374883+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.74",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TTN was added\ngene: TTN was added to Arrhythmogenic Cardiomyopathy. Sources: ClinGen\ndisputed tags were added to gene: TTN.\nMode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TTN were set to Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587\nReview for gene: TTN was set to RED\nAdded comment: ClinGen DISPUTED - Oct 2025 \nSources: ClinGen",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:20:08.757011+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: KCNH2 as ready",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:20:08.746757+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcnh2 has been classified as Red List (Low Evidence).",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:19:55.226450+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ABCC9 as ready",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:19:55.216581+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: abcc9 has been classified as Red List (Low Evidence).",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:19:47.098332+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ABCC9 was added\ngene: ABCC9 was added to Brugada syndrome. Sources: ClinGen\ndisputed tags were added to gene: ABCC9.\nMode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ABCC9 were set to Brugada syndrome, MONDO:0015263\nReview for gene: ABCC9 was set to RED\nAdded comment: ClinGen DISPUTED - Oct 2025 \nSources: ClinGen",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:19:34.097168+11:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KCNH2 was added\ngene: KCNH2 was added to Brugada syndrome. Sources: ClinGen\ndisputed tags were added to gene: KCNH2.\nMode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNH2 were set to Brugada syndrome, MONDO:0015263\nReview for gene: KCNH2 was set to RED\nAdded comment: ClinGen DISPUTED - Jun 2025 \nSources: ClinGen",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:16:14.285015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3596",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen DISPUTED for catecholaminergic polymorphic ventricular tachycardia - Jan 2021 \r\nSources: ClinGen; to: CPVT - ClinGen DISPUTED - Jan 2021 \r\nSources: ClinGen",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:15:57.714267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3596",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: PKP2: Added comment: CPVT - ClinGen DISPUTED - Jan 2021; Changed phenotypes: Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:15:02.300618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3596",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen DISPUTED - Jan 2021 \nSources: ClinGen; to: ClinGen DISPUTED for catecholaminergic polymorphic ventricular tachycardia - Jan 2021 \r\nSources: ClinGen",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:14:21.187342+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3596",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene ANK2 from panel Catecholaminergic Polymorphic Ventricular Tachycardia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T15:14:07.033042+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3595",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PKP2 from panel Catecholaminergic Polymorphic Ventricular Tachycardia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T15:14:03.282211+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: ANK2 as ready",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:14:03.275003+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ank2 has been classified as Red List (Low Evidence).",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:13:53.864896+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ANK2 was added\ngene: ANK2 was added to Catecholaminergic Polymorphic Ventricular Tachycardia. Sources: ClinGen\ndisputed tags were added to gene: ANK2.\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANK2 were set to Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990\nReview for gene: ANK2 was set to RED\nAdded comment: ClinGen DISPUTED - Jan 2021 \nSources: ClinGen",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:13:44.046986+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PKP2 as ready",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:13:44.037882+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pkp2 has been classified as Red List (Low Evidence).",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:13:11.862868+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PKP2 was added\ngene: PKP2 was added to Catecholaminergic Polymorphic Ventricular Tachycardia. Sources: ClinGen\ndisputed tags were added to gene: PKP2.\nMode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PKP2 were set to Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990\nReview for gene: PKP2 was set to RED\nAdded comment: ClinGen DISPUTED - Jan 2021 \nSources: ClinGen",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:10:23.770864+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: KCNJ2.",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:07:47.633904+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: EWSR1.",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2025-11-20T15:07:27.721737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3594",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: EWSR1.",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:13:35.724830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3594",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: UPK3A: ClinGen DISPUTED - Jan 2023",
"entity_name": "UPK3A",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:12:27.056151+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3594",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: UPK3A were changed from CAKUT to Congenital anomaly of kidney and urinary tract, MONDO:0019719",
"entity_name": "UPK3A",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:11:15.964742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3593",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: UPK3A.",
"entity_name": "UPK3A",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:11:15.650154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3593",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene UPK3A from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T13:09:58.850555+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: THBD.",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:09:48.716342+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: THBD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:07:49.457761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3592",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene ZFYVE27 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T13:07:48.086630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3591",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ZFYVE27.",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:06:26.001018+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.63",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: PIK3R5: ClinGen DISPUTED - Apr 2025",
"entity_name": "PIK3R5",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:05:01.758750+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.595",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PIK3R5",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:04:36.319262+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.595",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PIK3R5 from panel Cerebellar and Pontocerebellar Hypoplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T13:04:22.945839+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: PIK3R5.",
"entity_name": "PIK3R5",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:04:13.783535+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.594",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: PIK3R5.",
"entity_name": "PIK3R5",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:04:00.284834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3590",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: PIK3R5.",
"entity_name": "PIK3R5",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:03:56.593144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3591",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PIK3R5 from panel Cerebellar and Pontocerebellar Hypoplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T13:03:44.764083+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.63",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PIK3R5 from panel Cerebellar and Pontocerebellar Hypoplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T13:02:43.734738+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: PIK3R5.",
"entity_name": "PIK3R5",
"entity_type": "gene"
},
{
"created": "2025-11-20T13:02:34.255474+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: PIK3R5: ClinGen DISPUTED - Apr 2025",
"entity_name": "PIK3R5",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:41:20.364487+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.52",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CFAP47 as ready",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:41:20.357496+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.52",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cfap47 has been classified as Green List (High Evidence).",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:41:17.996415+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.52",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP47 were changed from Spermatogenic failure, X-linked, 3, MIM# 301059; Cystic kidney disease MONDO:0002473 to Spermatogenic failure, X-linked, 3, MIM# 301059",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:40:54.937902+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.51",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CFAP47 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T12:40:54.835708+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.51",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CFAP47 was added\ngene: CFAP47 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CFAP47 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CFAP47 were set to 33472045; 39698362\nPhenotypes for gene: CFAP47 were set to Spermatogenic failure, X-linked, 3, MIM# 301059; Cystic kidney disease MONDO:0002473",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:40:29.724896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3590",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: 3 Japanese individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts, infertility, or any family history of cystic kidney disease. WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased. CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.; to: 3 Japanese individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts, infertility, or any family history of cystic kidney disease. WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased. CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.\r\n\r\nClinGen DISPUTED - Feb 2025",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:39:52.558420+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: CFAP47: ClinGen DISPUTED - Feb 2025",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:39:34.134362+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: CFAP47.",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:38:55.518430+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1086",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NUP62 was added\ngene: NUP62 was added to Mitochondrial disease. Sources: ClinGen\ndisputed tags were added to gene: NUP62.\nMode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP62 were set to Leigh syndrome, MONDO:0009723\nReview for gene: NUP62 was set to RED\nAdded comment: ClinGen DISPUTED - Dec 2020 \nSources: ClinGen",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:34:50.121258+11:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: MSH6 as ready",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:34:50.110528+11:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: msh6 has been classified as Red List (Low Evidence).",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:34:46.668924+11:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PMS2 as ready",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:34:46.659012+11:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pms2 has been classified as Red List (Low Evidence).",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:34:43.184206+11:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: RECQL as ready",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:34:43.172386+11:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: recql has been classified as Red List (Low Evidence).",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:34:39.235290+11:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RECQL was added\ngene: RECQL was added to Breast Cancer. Sources: ClinGen\ndisputed tags were added to gene: RECQL.\nMode of inheritance for gene: RECQL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RECQL were set to Hereditary breast carcinoma, MONDO:0016419\nReview for gene: RECQL was set to RED\nAdded comment: ClinGen DISPUTED - Mar 2023 \nSources: ClinGen",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:34:23.817466+11:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "1.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Breast Cancer. Sources: ClinGen\ndisputed tags were added to gene: PMS2.\nMode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PMS2 were set to Hereditary breast carcinoma, MONDO:0016419\nReview for gene: PMS2 was set to RED\nAdded comment: ClinGen DISPUTED - Dec 2023 \nSources: ClinGen",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2025-11-20T12:34:04.488175+11:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Breast Cancer. Sources: ClinGen\ndisputed tags were added to gene: MSH6.\nMode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSH6 were set to Hereditary breast carcinoma, MONDO:0016419\nReview for gene: MSH6 was set to RED\nAdded comment: ClinGen DISPUTED - Dec 2023 \nSources: ClinGen",
"entity_name": "MSH6",
"entity_type": "gene"
}
]
}