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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=19",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=17",
"results": [
{
"created": "2026-03-18T10:10:45.227129+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NRDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 41734767, 41449824, 28017472; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, NRDC-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:10:06.931004+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRDC as ready",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:10:06.916717+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrdc has been classified as Green List (High Evidence).",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:10:03.932548+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:09:30.666408+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NRDC as Green List (high evidence)",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:09:30.653796+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrdc has been classified as Green List (High Evidence).",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:09:02.625691+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NRDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 41734767, 41449824, 28017472; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, NRDC-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:08:50.743148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRDC as ready",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:08:50.732891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrdc has been classified as Green List (High Evidence).",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:08:16.626212+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NRDC as Green List (high evidence)",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:08:16.613284+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrdc has been classified as Green List (High Evidence).",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-18T10:07:40.376804+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NRDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 41734767, 41449824, 28017472; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, NRDC-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRDC",
"entity_type": "gene"
},
{
"created": "2026-03-17T21:14:46.874608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4558",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RPS27A from panel Haematological malignancies",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T21:14:46.278182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4558",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPS27A was added\ngene: RPS27A was added to Mendeliome. Sources: Expert Review Red,Curated sources\nMode of inheritance for gene: RPS27A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPS27A were set to 28297620; 24680683; 26942564\nPhenotypes for gene: RPS27A were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)",
"entity_name": "RPS27A",
"entity_type": "gene"
},
{
"created": "2026-03-17T20:21:39.319756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4557",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RPL36 from panel Haematological malignancies",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T20:21:38.700016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4557",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPL36 was added\ngene: RPL36 was added to Mendeliome. Sources: Expert Review Amber,Curated sources\nMode of inheritance for gene: RPL36 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL36 were set to 28297620; 19061985; 39923319\nPhenotypes for gene: RPL36 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR); Diamond-Blackfan anemia MONDO:0015253",
"entity_name": "RPL36",
"entity_type": "gene"
},
{
"created": "2026-03-17T20:21:25.307605+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RPL36 from panel Haematological malignancies",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T20:21:25.168804+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPL36 was added\ngene: RPL36 was added to Diamond Blackfan anaemia. Sources: Expert Review Amber,Curated sources\nMode of inheritance for gene: RPL36 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL36 were set to 28297620; 19061985; 39923319\nPhenotypes for gene: RPL36 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR); Diamond-Blackfan anemia MONDO:0015253",
"entity_name": "RPL36",
"entity_type": "gene"
},
{
"created": "2026-03-17T18:48:37.857810+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MDM4 were changed from bone marrow failure syndrome MONDO:0000159, MDM4-related to bone marrow failure syndrome 6, MONDO:0030015",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2026-03-17T18:48:11.468031+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MDM4 as Green List (high evidence)",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2026-03-17T18:48:11.460073+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdm4 has been classified as Green List (High Evidence).",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2026-03-17T18:47:40.175098+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MDM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 41758987; Phenotypes: bone marrow failure syndrome 6, MONDO:0030015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2026-03-17T18:37:18.300550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MDM4 were changed from bone marrow failure syndrome MONDO:0000159, MDM4-related to bone marrow failure syndrome 6, MONDO:0030015",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2026-03-17T18:36:52.761832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MDM4 were set to 32300648; 33104793",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2026-03-17T18:36:26.121384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MDM4 as Green List (high evidence)",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2026-03-17T18:36:26.113677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdm4 has been classified as Green List (High Evidence).",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2026-03-17T18:36:09.049982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MDM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 41758987, 32300648; Phenotypes: bone marrow failure syndrome 6, MONDO:0030015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MDM4",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:47:06.415004+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VWA3B as ready",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:47:06.399778+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwa3b has been classified as Green List (High Evidence).",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:46:46.623954+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VWA3B as ready",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:46:46.611628+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwa3b has been classified as Green List (High Evidence).",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:46:31.330911+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.701",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene VWA3B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T17:46:30.954686+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VWA3B was added\ngene: VWA3B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: VWA3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VWA3B were set to 26157035; 41673450; 37772257\nPhenotypes for gene: VWA3B were set to Spinocerebellar ataxia, autosomal recessive 22 MIM#616948",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:46:20.876765+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VWA3B were changed from ?Spinocerebellar ataxia, autosomal recessive 22 to Spinocerebellar ataxia, autosomal recessive 22 MIM#616948",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:45:29.011210+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VWA3B as Green List (high evidence)",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:45:28.993271+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwa3b has been classified as Green List (High Evidence).",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:45:11.666029+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VWA3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 41673450, 37772257, 26157035; Phenotypes: Spinocerebellar ataxia, autosomal recessive 22, MIM# 616948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:44:04.326897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VWA3B were set to 26157035",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:43:42.771885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VWA3B as Green List (high evidence)",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:43:42.765218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwa3b has been classified as Green List (High Evidence).",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:43:20.074258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VWA3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 41673450, 37772257, 26157035; Phenotypes: Spinocerebellar ataxia, autosomal recessive 22, MIM# 616948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:36:37.645802+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYOM1 as ready",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:36:37.635889+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myom1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:36:09.610771+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYOM1 were changed from Dilated cardiomyopathy, MONDO:0005021, MYOM1-related; Hypertrophic cardiomyopathy, MONDO:0005045 to Dilated cardiomyopathy, MONDO:0005021, MYOM1-related",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:35:44.970135+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:35:33.758106+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MYOM1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T17:35:33.576028+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYOM1 was added\ngene: MYOM1 was added to Dilated Cardiomyopathy. Sources: Expert Review Amber,Victorian Clinical Genetics Services\ndisputed tags were added to gene: MYOM1.\nMode of inheritance for gene: MYOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYOM1 were set to 27600940; 26656175; 21256114\nPhenotypes for gene: MYOM1 were set to Dilated cardiomyopathy, MONDO:0005021, MYOM1-related; Hypertrophic cardiomyopathy, MONDO:0005045",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:34:25.286557+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYOM1 were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Dilated cardiomyopathy, MONDO:0005021, MYOM1-related; Hypertrophic cardiomyopathy, MONDO:0005045",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:34:08.178651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYOM1 as Amber List (moderate evidence)",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:34:08.170110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myom1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:33:52.447229+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 41702018 reports 28 unrelated families with heterozygous loss‑of‑function MYOM1 variants associated dilated cardiomyopathy. Individuals identified from UK Biobank, hence limited clinical and segregation data. Mouse Myom1 knock‑down functional validation; to: PMID 41702018 reports 28 unrelated families with heterozygous loss‑of‑function MYOM1 variants associated dilated cardiomyopathy. Individuals identified from UK Biobank, hence limited clinical and segregation data. Mouse Myom1 knock‑down functional validation\r\n\r\nNote DISPUTED association with HCM.",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2026-03-17T17:32:56.660665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYOM1: Added comment: PMID 41702018 reports 28 unrelated families with heterozygous loss‑of‑function MYOM1 variants associated dilated cardiomyopathy. Individuals identified from UK Biobank, hence limited clinical and segregation data. Mouse Myom1 knock‑down functional validation; Changed rating: AMBER; Changed publications: 41702018, 26036949; Changed phenotypes: Dilated cardiomyopathy, MONDO:0005021, MYOM1-related",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:39:09.000225+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BDNF as ready",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:39:08.993656+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bdnf has been classified as Amber List (Moderate Evidence).",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:39:02.526303+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:38:45.445888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Refuted gene, disease association has been removed in OMIM.; to: Refuted gene, disease association with central hypoventilation has been removed in OMIM.",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:38:20.428170+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene BDNF from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T16:38:20.380016+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BDNF was added\ngene: BDNF was added to Severe early-onset obesity. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BDNF were set to 41680086; 37329217; 33442278; 32493978; 30926952; 28397838\nPhenotypes for gene: BDNF were set to Obesity disorder, MONDO:0011122, BDNF-related",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:38:04.498391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BDNF were changed from to Obesity disorder, MONDO:0011122, BDNF-related",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:37:38.440178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BDNF were set to ",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:37:11.913450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:36:13.305932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BDNF as Amber List (moderate evidence)",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:36:13.281402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bdnf has been classified as Amber List (Moderate Evidence).",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:35:49.785085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BDNF: Added comment: 9 families with heterozygous variants causing severe early‑onset obesity, often with hyperphagia and neuro‑behavioral features) reported across multiple papers. Variants are generally missense with little supporting data. The PMID 32493978 report provides the first experimental functional validation (cell‑based assays showing impaired pro‑BDNF processing and loss‑of‑function).; Changed rating: AMBER; Changed publications: 41680086, 37329217, 33442278, 32493978, 30926952, 28397838; Changed phenotypes: Obesity disorder, MONDO:0011122, BDNF-related",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:26:56.507546+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF124 as ready",
"entity_name": "ZNF124",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:26:56.500220+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf124 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF124",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:23:48.501296+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ZNF124 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T16:23:48.398498+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF124 was added\ngene: ZNF124 was added to Retinitis pigmentosa. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ZNF124 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF124 were set to 41708596\nPhenotypes for gene: ZNF124 were set to Retinitis pigmentosa, MONDO:0019200, ZNF124-related",
"entity_name": "ZNF124",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:23:28.732213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF124 as ready",
"entity_name": "ZNF124",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:23:28.724105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf124 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF124",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:14:53.482041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF124 was added\ngene: ZNF124 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF124 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF124 were set to 41708596\nPhenotypes for gene: ZNF124 were set to Retinitis pigmentosa, MONDO:0019200, ZNF124-related\nReview for gene: ZNF124 was set to RED\nAdded comment: PMID 41708596 report 2 individuals from a consanguineous family with retinitis pigmentosa and a homozygous splice‑site loss‑of‑function variant c.219‑1delG in ZNF124. The variant co‑segregates with disease and mouse retina‑specific knockout recapitulates the retinal degeneration phenotype through loss of ZNF124‑mediated activation of MSX2. \nSources: Literature",
"entity_name": "ZNF124",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:10:44.600437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC57 as ready",
"entity_name": "CCDC57",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:10:44.589358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc57 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC57",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:10:32.333260+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC57 as ready",
"entity_name": "CCDC57",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:10:32.322028+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc57 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC57",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:10:21.306185+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CCDC57 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T16:10:21.168906+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC57 was added\ngene: CCDC57 was added to Heterotaxy. Sources: Expert Review Red,Literature\nMode of inheritance for gene: CCDC57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC57 were set to 41758249\nPhenotypes for gene: CCDC57 were set to Visceral heterotaxy, MONDO:0018677, CCDC57-related",
"entity_name": "CCDC57",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:09:39.780066+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CCDC57 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T16:09:39.522248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC57 was added\ngene: CCDC57 was added to Fetal anomalies. Sources: Expert Review Red,Literature\nMode of inheritance for gene: CCDC57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC57 were set to 41758249\nPhenotypes for gene: CCDC57 were set to Visceral heterotaxy, MONDO:0018677, CCDC57-related",
"entity_name": "CCDC57",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:09:12.689052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC57 as ready",
"entity_name": "CCDC57",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:09:12.682224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc57 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC57",
"entity_type": "gene"
},
{
"created": "2026-03-17T16:09:04.905937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC57 was added\ngene: CCDC57 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC57 were set to 41758249\nPhenotypes for gene: CCDC57 were set to Visceral heterotaxy, MONDO:0018677, CCDC57-related\nReview for gene: CCDC57 was set to RED\nAdded comment: PMID 41758249 reports a single individual with compound heterozygous missense variants presenting with isolated laterality disorder (situs inversus, dextrocardia, chronic sinusitis). Xenopus rescue experiments showed that wild‑type CCDC57 mRNA rescues ciliary structure and fluid flow, whereas patient variant mRNAs fail to rescue, supporting loss‑of‑function. \nSources: Literature",
"entity_name": "CCDC57",
"entity_type": "gene"
},
{
"created": "2026-03-17T15:53:14.488217+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPOT as ready",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T15:53:14.460807+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpot has been classified as Green List (High Evidence).",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T15:53:03.989567+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPOT as ready",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T15:53:03.980105+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpot has been classified as Green List (High Evidence).",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T15:52:53.841324+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPOT as ready",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T15:52:53.833459+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpot has been classified as Green List (High Evidence).",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T13:18:30.881273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4543",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ICOSLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 34694545; Phenotypes: immunodeficiency 119, MONDO:0970993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICOSLG",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:42:14.607657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4543",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39119454; Phenotypes: diencephalic-mesencephalic junction dysplasia syndrome 2, MONDO:0020762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSX2",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:40:14.511871+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene XPOT from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T11:40:14.360056+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPOT was added\ngene: XPOT was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Literature\npreprint tags were added to gene: XPOT.\nMode of inheritance for gene: XPOT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XPOT were set to 10.64898/2026.01.28.26344748\nPhenotypes for gene: XPOT were set to Syndromic disease, MONDO:0002254",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:39:32.531945+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.700",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene XPOT from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T11:39:32.170680+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPOT was added\ngene: XPOT was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\npreprint tags were added to gene: XPOT.\nMode of inheritance for gene: XPOT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XPOT were set to 10.64898/2026.01.28.26344748\nPhenotypes for gene: XPOT were set to Syndromic disease, MONDO:0002254",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:38:47.902700+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene XPOT from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-17T11:38:47.747995+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPOT was added\ngene: XPOT was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature\npreprint tags were added to gene: XPOT.\nMode of inheritance for gene: XPOT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XPOT were set to 10.64898/2026.01.28.26344748\nPhenotypes for gene: XPOT were set to Syndromic disease, MONDO:0002254",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:37:46.389005+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPOT as ready",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:37:46.376298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpot has been classified as Green List (High Evidence).",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:37:38.654294+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XPOT as Green List (high evidence)",
"entity_name": "XPOT",
"entity_type": "gene"
},
{
"created": "2026-03-17T11:37:38.647508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpot has been classified as Green List (High Evidence).",
"entity_name": "XPOT",
"entity_type": "gene"
}
]
}