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{
"count": 220694,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=121",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=119",
"results": [
{
"created": "2025-11-20T21:41:54.777444+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.220",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene RDH12 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:41:27.054376+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene NR2E3 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:38:18.991517+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:37:16.500321+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NRL were set to 39766861; 36140584; 35693422",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:35:45.193548+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: NRL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:35:17.630511+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "François BOEMER",
"item_type": "entity",
"text": "edited their review of gene: MYH7: Added comment: The natural history of MYH7-related cardiomyopathies shows considerable variation in age of onset. In the 2022 paper by de Frutos et al., only 9 of 115 reported cases developed symptoms before 10 years of age. Moreover, substantial phenotypic heterogeneity can occur among affected members of the same family.\r\nConsequently, within the BabyDetect project, the reporting criteria for MYH7 variants are restricted to cases in which two variants are identified—either in a homozygous state or as possible compound heterozygotes.; Set current diagnostic: yes",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:33:39.322850+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.215",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Retinitis pigmentosa_Autosomal Recessive/X-linked to Retinitis pigmentosa",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:26:20.863365+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SPP2 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:26:20.733938+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPP2 was added\ngene: SPP2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: SPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPP2 were set to 26459573\nPhenotypes for gene: SPP2 were set to Autosomal dominant retinitis pigmentosa",
"entity_name": "SPP2",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:26:18.552307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3625",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SPP2 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:26:17.450842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3625",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPP2 was added\ngene: SPP2 was added to Mendeliome. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: SPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPP2 were set to 26459573\nPhenotypes for gene: SPP2 were set to Autosomal dominant retinitis pigmentosa",
"entity_name": "SPP2",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:23:18.018921+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.213",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene SEMA4A from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:21:57.389356+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene SAG from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:20:20.688857+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "François BOEMER",
"item_type": "entity",
"text": "gene: MYH7 was added\ngene: MYH7 was added to Genomic newborn screening: ICoNS. Sources: Expert Review\nMode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYH7 were set to doi.org/10.1016/j.jacc.2022.07.023; doi.org/10.1038/gim.2017.218\nPhenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Congenital myopathy 7A, myosin storage, autosomal dominant; Congenital myopathy 7B, myosin storage, autosomal recessive; Laing distal myopathy; Left ventricular noncompaction 5\nPenetrance for gene: MYH7 were set to Complete\nMode of pathogenicity for gene: MYH7 was set to Other\nReview for gene: MYH7 was set to GREEN\nAdded comment: Sources: Expert Review",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:17:55.809545+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RP9 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:17:55.669374+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RP9 was added\ngene: RP9 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: RP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RP9 were set to 16799052; 16671097\nPhenotypes for gene: RP9 were set to Retinitis pigmentosa 9, 180104",
"entity_name": "RP9",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:17:13.633906+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.210",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRKCG from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:17:13.453794+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.210",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRKCG was added\ngene: PRKCG was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert list\nMode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKCG were set to 9545390; 16828200\nPhenotypes for gene: PRKCG were set to Retinitis pigmentosa 11 MIM#600138",
"entity_name": "PRKCG",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:16:45.692362+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PITPNM3 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:16:45.567495+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PITPNM3 was added\ngene: PITPNM3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PITPNM3 were set to 22405330; 17377520\nPhenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:15:34.139319+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.208",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FSCN2 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:15:33.967458+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FSCN2 was added\ngene: FSCN2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital,Royal Melbourne Hospital\nMode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FSCN2 were set to 16043865; 18450588\nPhenotypes for gene: FSCN2 were set to Retinitis pigmentosa 30 MIM#607921; Macular degeneration",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:14:55.365952+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CA4 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:14:55.216104+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CA4 was added\ngene: CA4 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital\ndisputed tags were added to gene: CA4.\nMode of inheritance for gene: CA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CA4 were set to 15563508; 15090652; 17652713; 16260723\nPhenotypes for gene: CA4 were set to Retinitis pigmentosa 17, 600852",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:14:10.802667+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.206",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRPF6 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:14:10.667747+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.206",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRPF6 was added\ngene: PRPF6 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: PRPF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRPF6 were set to 21549338; 32335390\nPhenotypes for gene: PRPF6 were set to Retinitis pigmentosa 60, MIM# 613983",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:13:16.761297+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GUCA1B from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:13:16.625703+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GUCA1B was added\ngene: GUCA1B was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Amber,Royal Melbourne Hospital\nfounder tags were added to gene: GUCA1B.\nMode of inheritance for gene: GUCA1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GUCA1B were set to 15452722; 26161267\nPhenotypes for gene: GUCA1B were set to Retinitis pigmentosa 48, MIM#613827",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:11:52.923760+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.204",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ARL3 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:11:52.781388+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARL3 was added\ngene: ARL3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: ARL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ARL3 were set to 26936825; 16565502; 26964041; 26814127; 30932721; 30269812\nPhenotypes for gene: ARL3 were set to Retinitis pigmentosa 83; Joubert syndrome 35",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:04:00.850746+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ACTG1 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:04:00.697402+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACTG1 was added\ngene: ACTG1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTG1 were set to PMID: 28000701, PMID 34448047, PMID 39734360\nPhenotypes for gene: ACTG1 were set to Retinitis pigmentosa MONDO:0019200, ACTG1-related\nMode of pathogenicity for gene: ACTG1 was set to Other",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:02:47.552224+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.202",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene VWA8 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:02:47.392120+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.202",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VWA8 was added\ngene: VWA8 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Literature\nMode of inheritance for gene: VWA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VWA8 were set to 37012052; 40638000\nPhenotypes for gene: VWA8 were set to Retinitis pigmentosa 97, MIM#620422",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:02:03.848102+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TOPORS from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:02:03.726681+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TOPORS was added\ngene: TOPORS was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TOPORS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TOPORS were set to 17924349; 28041643; 18509552; 24938718; 31736247; 28224992; 19183411; 19373681; 28453362; 33576794; 33691693\nPhenotypes for gene: TOPORS were set to Retinitis pigmentosa 31, MIM#609923; TOPORS-related retinopathy MONDO:0700233",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2025-11-20T21:00:07.674909+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SNRNP200 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T21:00:07.538215+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SNRNP200 was added\ngene: SNRNP200 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SNRNP200 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SNRNP200 were set to 23029027; 26720483; 21618346; 33553197; 33090715; 33598457\nPhenotypes for gene: SNRNP200 were set to Retinitis pigmentosa 33, MIM#610359; SNRNP200-related dominant retinopathy MONDO:0800098",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2025-11-20T20:59:14.346607+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene RPE65 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T20:57:31.191705+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene RP1 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T20:56:41.226759+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ROM1 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T20:56:41.085245+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ROM1 was added\ngene: ROM1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ROM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ROM1 were set to 32036094; 8202715; 30630813; 24618324; 20300562; 32716032\nPhenotypes for gene: ROM1 were set to Retinitis pigmentosa 7, digenic, 608133",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2025-11-20T20:52:21.968586+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene RDH12 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T20:47:57.938869+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRPF8 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T20:47:57.791180+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRPF8 was added\ngene: PRPF8 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRPF8 were set to 17061239; 11910553; 11468273; 20301590\nPhenotypes for gene: PRPF8 were set to Retinitis pigmentosa 13, MIM#600059; PRPF8-related retinopathy MONDO:0700234",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2025-11-20T20:47:25.872788+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRPF4 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T20:47:25.737600+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRPF4 was added\ngene: PRPF4 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRPF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRPF4 were set to 24419317; 25383878\nPhenotypes for gene: PRPF4 were set to Retinitis pigmentosa 70, MIM# 615922",
"entity_name": "PRPF4",
"entity_type": "gene"
},
{
"created": "2025-11-20T20:46:41.575433+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRPF31 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T20:46:41.438121+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRPF31 was added\ngene: PRPF31 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nSV/CNV tags were added to gene: PRPF31.\nMode of inheritance for gene: PRPF31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRPF31 were set to 32014492\nPhenotypes for gene: PRPF31 were set to Retinitis pigmentosa 11, 600138",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2025-11-20T20:46:02.042870+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRPF3 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T20:46:01.844441+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRPF3 was added\ngene: PRPF3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRPF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRPF3 were set to 11773002; 27886254\nPhenotypes for gene: PRPF3 were set to Retinitis pigmentosa 18, MIM# 601414",
"entity_name": "PRPF3",
"entity_type": "gene"
},
{
"created": "2025-11-20T20:42:37.341874+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene PDE6B from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T20:39:23.145824+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene NRL from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T20:34:03.032559+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene NR2E3 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T18:42:51.123235+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene KLHL7 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T18:42:50.976677+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KLHL7 was added\ngene: KLHL7 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KLHL7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KLHL7 were set to Retinitis pigmentosa 42, 612943",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2025-11-20T18:42:24.757742+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene IMPG1 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T18:41:48.789545+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene IMPDH1 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T18:41:48.661235+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IMPDH1 was added\ngene: IMPDH1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: IMPDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IMPDH1 were set to 16384941\nPhenotypes for gene: IMPDH1 were set to Retinitis pigmentosa 10, 180105; Leber Congenital Amaurosis; Leber congenital amaurosis 11",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2025-11-20T18:41:12.809782+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HK1 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T18:41:12.677463+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HK1 was added\ngene: HK1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HK1 were set to 25316723; 25190649; 31621442; 32814480\nPhenotypes for gene: HK1 were set to Retinitis pigmentosa 79, MIM# 617460",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-11-20T18:40:36.181526+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CRX from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T18:40:36.062149+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CRX was added\ngene: CRX was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRX were set to Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2025-11-20T18:39:55.805515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3624",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene CRB1 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T18:37:47.287227+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene C1QTNF5 from panel Retinitis pigmentosa_Autosomal Dominant",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T18:37:47.160601+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C1QTNF5 was added\ngene: C1QTNF5 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: C1QTNF5 were set to 33949280; 12944416; 30451557; 28939808; 32036094\nPhenotypes for gene: C1QTNF5 were set to Retinal degeneration, late-onset, autosomal dominant MIM#605670\nMode of pathogenicity for gene: C1QTNF5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2025-11-20T18:00:11.019448+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB2 as ready",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-11-20T18:00:11.008857+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb2 has been classified as Green List (High Evidence).",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-11-20T18:00:02.570118+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:31:43.422479+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:31:20.483900+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:29:36.516894+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:29:36.509521+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:29:32.486573+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD4 were changed from to Myhre syndrome, MIM# 139210",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:29:06.074793+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:28:38.404096+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myhre syndrome, MIM# 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:27:02.085917+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD3 as ready",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:27:02.075699+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:26:57.939157+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:26:21.804765+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:25:56.056487+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD3 as Amber List (moderate evidence)",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:25:56.049530+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:25:26.879492+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:22:33.667681+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SKI as ready",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:22:33.656116+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ski has been classified as Green List (High Evidence).",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:22:29.674720+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM# 182212",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:22:05.488905+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SKI were set to ",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:21:36.657261+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:21:11.448460+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301454; Phenotypes: Shprintzen-Goldberg syndrome, MIM# 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:21:04.759243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3623",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PCSK5 as ready",
"entity_name": "PCSK5",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:21:04.749383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3623",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pcsk5 has been classified as Red List (Low Evidence).",
"entity_name": "PCSK5",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:20:53.053530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3623",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PCSK5 from panel Congenital Heart Defect",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-20T17:20:52.455975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3623",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PCSK5 was added\ngene: PCSK5 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: PCSK5.\nMode of inheritance for gene: PCSK5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PCSK5 were set to Syndromic congenital heart disease, MONDO:0100614",
"entity_name": "PCSK5",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:20:34.900066+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.479",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PCSK5 as ready",
"entity_name": "PCSK5",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:20:34.892567+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.479",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pcsk5 has been classified as Red List (Low Evidence).",
"entity_name": "PCSK5",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:20:29.410062+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.479",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PCSK5 was added\ngene: PCSK5 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: PCSK5.\nMode of inheritance for gene: PCSK5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PCSK5 were set to Syndromic congenital heart disease, MONDO:0100614\nReview for gene: PCSK5 was set to RED\nAdded comment: ClinGen DISPUTED - Apr 2025 \nSources: ClinGen",
"entity_name": "PCSK5",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:19:16.216909+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR1 as ready",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:19:16.207785+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:18:42.586372+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR1 were changed from to Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia, MIM# 117000; Congenital myopathy 1B, autosomal recessive, MIM# 255320",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2025-11-20T17:18:13.205020+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RYR1 were set to ",
"entity_name": "RYR1",
"entity_type": "gene"
}
]
}