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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1995",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1993",
"results": [
{
"created": "2020-01-09T21:04:29.944517+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VTN as ready",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:04:29.936870+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vtn has been classified as Red List (Low Evidence).",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:04:29.853704+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VTN were set to ",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:04:11.746211+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VTN were changed from to Atypical haemolytic uraemic syndrome",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:03:54.750641+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VTN were set to ",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:03:02.211888+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:02:41.906170+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:01:45.544860+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VTN as Red List (low evidence)",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:01:45.533885+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vtn has been classified as Red List (Low Evidence).",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:01:23.850327+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VTN: Rating: RED; Mode of pathogenicity: None; Publications: 30377230; Phenotypes: Atypical haemolytic uraemic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:50:36.677032+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:50:16.712148+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANLN as Amber List (moderate evidence)",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:50:16.705024+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anln has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:49:53.611546+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8, OMIM #616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:47:06.506675+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGAP24 as ready",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:47:06.498390+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap24 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:46:55.658152+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARHGAP24 were set to ",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:46:24.215675+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP24 were changed from to FSGS",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:45:26.899788+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGAP24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:44:57.812174+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGAP24 as Red List (low evidence)",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:44:57.805142+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap24 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:44:36.929214+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARHGAP24: Rating: RED; Mode of pathogenicity: None; Publications: 21911940; Phenotypes: FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:42:32.055054+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD2AP as ready",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:42:32.047419+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd2ap has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:42:22.331234+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3, OMIM #607832",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:42:08.741200+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD2AP were set to ",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:41:17.091114+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD2AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:40:40.775414+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD2AP as Amber List (moderate evidence)",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:40:40.768693+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd2ap has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:40:21.366848+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: 30612599, 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:38:23.980937+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITSN1 as ready",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:38:23.974072+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itsn1 has been classified as Green List (High Evidence).",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:38:13.388600+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITSN1 as Green List (high evidence)",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:38:13.381905+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itsn1 has been classified as Green List (High Evidence).",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:37:54.544348+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITSN1 was added\ngene: ITSN1 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: ITSN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITSN1 were set to 29773874\nReview for gene: ITSN1 was set to GREEN\nAdded comment: 3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS. \nSources: Expert list",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:34:38.914563+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA5 as ready",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:34:38.908059+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:34:26.982021+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA5 as Amber List (moderate evidence)",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:34:26.975053+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:32:34.211973+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PODXL as ready",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:32:34.204909+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: podxl has been classified as Green List (High Evidence).",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:32:19.128416+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PODXL as Green List (high evidence)",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2020-01-09T20:32:19.121332+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: podxl has been classified as Green List (High Evidence).",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2020-01-09T19:02:40.549650+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNS2 as ready",
"entity_name": "TNS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T19:02:40.542708+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tns2 has been classified as Green List (High Evidence).",
"entity_name": "TNS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T19:02:29.728130+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNS2 as Green List (high evidence)",
"entity_name": "TNS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T19:02:29.721043+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tns2 has been classified as Green List (High Evidence).",
"entity_name": "TNS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T19:02:09.693298+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNS2 was added\ngene: TNS2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: TNS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNS2 were set to 29773874\nPhenotypes for gene: TNS2 were set to Nephrotic syndrome\nReview for gene: TNS2 was set to GREEN\nAdded comment: Five families reported in this paper reporting multiple new SRNS genes. \nSources: Expert list",
"entity_name": "TNS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:59:35.542911+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XPO5 as Red List (low evidence)",
"entity_name": "XPO5",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:59:35.535833+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpo5 has been classified as Red List (Low Evidence).",
"entity_name": "XPO5",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:57:58.767135+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPRKB as ready",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:57:58.760263+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tprkb has been classified as Green List (High Evidence).",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:57:46.510690+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPRKB were changed from to Galloway-Mowat syndrome 5, OMIM #617731",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:57:13.944472+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPRKB were set to ",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:56:47.171755+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPRKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:52:13.042693+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXC2 as ready",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:52:13.034657+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Green List (High Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:52:09.584823+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXC2 as Green List (high evidence)",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:52:09.577963+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Green List (High Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:51:17.608457+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:51:17.601778+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:51:13.886477+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A1 as Green List (high evidence)",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:51:13.878489+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:50:24.261615+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB2 as ready",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:50:24.253003+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb2 has been classified as Green List (High Evidence).",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:50:20.035504+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMB2 as Green List (high evidence)",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:50:20.026538+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb2 has been classified as Green List (High Evidence).",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:49:17.442105+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAG1 as ready",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:49:17.433437+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Green List (High Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:49:13.901867+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAG1 as Green List (high evidence)",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-01-09T18:49:13.895008+11:00",
"panel_name": "Eye Anterior Segment Abnormalities_VCGS",
"panel_id": 43,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Green List (High Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-01-09T17:46:46.208328+11:00",
"panel_name": "Muscular dystrophy_VCGS",
"panel_id": 141,
"panel_version": "0.1",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23065703, 20818663; Phenotypes: ?Retinal arteries, tortuosity of MIM#180000, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773, Brain small vessel disease with or without ocular anomalies MIM#175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:33:25.200101+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH to Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-09T15:31:12.281678+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: THBD as Amber List (moderate evidence)",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:31:12.274866+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: thbd has been classified as Amber List (Moderate Evidence).",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:30:35.279070+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: None; Publications: 19625716; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, OMIM #612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:29:40.869522+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VTN as Red List (low evidence)",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:29:40.862492+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vtn has been classified as Red List (Low Evidence).",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:25:30.854079+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFHR2 as ready",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:25:30.847140+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfhr2 has been classified as Green List (High Evidence).",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:25:25.997266+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFHR2 as Green List (high evidence)",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:25:25.988669+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfhr2 has been classified as Green List (High Evidence).",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:24:52.415241+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CFHR2.",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:24:41.274006+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFHR2 was added\ngene: CFHR2 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Expert list\nMode of inheritance for gene: CFHR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CFHR2 were set to 24334459; 23728178; 20800271\nPhenotypes for gene: CFHR2 were set to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN\nReview for gene: CFHR2 was set to GREEN\nAdded comment: Variants currently not detectable by NGS: the pathogenic mutations in CFHR5, CFHR1 and CFHR2 that are known to cause disease are all gene duplication/fusion/rearrangement events which all lead to the production of elongated proteins, see Gale, 20800271; Tortajada 23728178; Chen, 24334459. \nSources: Expert list",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:18:42.302103+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CFHR5.",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:11:40.626046+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ADAMTS13 as Amber List (moderate evidence)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:11:40.619038+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: adamts13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-01-09T15:11:00.605899+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, familial, OMIM #274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:59:59.920563+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, OMIM #617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:59:23.513791+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XPO5 as Red List (low evidence)",
"entity_name": "XPO5",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:59:23.506826+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpo5 has been classified as Red List (Low Evidence).",
"entity_name": "XPO5",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:57:05.660999+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNS2 as ready",
"entity_name": "TNS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:57:05.653097+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tns2 has been classified as Green List (High Evidence).",
"entity_name": "TNS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:56:57.551743+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNS2 as Green List (high evidence)",
"entity_name": "TNS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:56:57.537199+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tns2 has been classified as Green List (High Evidence).",
"entity_name": "TNS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:56:18.646518+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNS2 was added\ngene: TNS2 was added to Proteinuria_VCGS_KidGen. Sources: Expert list\nMode of inheritance for gene: TNS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNS2 were set to 29773874\nPhenotypes for gene: TNS2 were set to Nephrotic syndrome\nReview for gene: TNS2 was set to GREEN\nAdded comment: Five families reported in this paper reporting multiple new SRNS genes. \nSources: Expert list",
"entity_name": "TNS2",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:51:39.229324+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.82",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PODXL was added\ngene: PODXL was added to Proteinuria_VCGS_KidGen. Sources: Literature\nMode of inheritance for gene: PODXL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PODXL were set to PMID: 30523047, 29244787, 28117080, 24048372\nPhenotypes for gene: PODXL were set to Nephrotic syndrome\nReview for gene: PODXL was set to GREEN\nAdded comment: 2 cases with functional evidence that the variants may cause disease. Additional case of patient with SRNS where variant is predicted to be deleterious. 1 case with a variant in an individual with FSGS but no evidence variant affects protein function. A further case with a patient with compound heterozygous variants in PODXL and congenital nephrotic syndrome.\r\n\r\nPMID: 30523047 - Lin et al 2019 - heterozygous nonsense PODXL mutations in two unrelated pedigrees: c.C976T (p. Arg326X) in a Chinese pedigree that was associated with proteinuria and renal insufficiency, and c.C1133G (p. Ser378X) in a British–Indian AD-FSGS pedigree. They also provide evidence with in vitro study showing that the heterozygous nonsense PODXL mutations may be causative in AD-FSGS.\r\n\r\nPMID: 29244787 - Kang et al 2017 - report a patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL. The 2 variants were a missense mutation at the initiation codon c.3G>T (p.Met1Ile) and a nonsense mutation at c.1023G>A (p.Trp341Ter).\r\n\r\nPMID: 28117080 - Bierzynska et al 2017 - Whole exome sequencing was performed on 187 paediatric patients with Steroid Resistant Nephrotic Syndrome (SRNS). 1 case found with variant in PODXL c.1427A>T:p.His476Leu which is predicted to be deleterious.\r\n\r\nPMID: 24048372 - Barua et al 2014 - exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R. However, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin. \nSources: Literature",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:51:08.807648+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.82",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PODXL was added\ngene: PODXL was added to Proteinuria_VCGS_KidGen. Sources: Literature\nMode of inheritance for gene: PODXL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PODXL were set to PMID: 30523047, 29244787, 28117080, 24048372\nPhenotypes for gene: PODXL were set to Nephrotic syndrome\nReview for gene: PODXL was set to GREEN\nAdded comment: 2 cases with functional evidence that the variants may cause disease. Additional case of patient with SRNS where variant is predicted to be deleterious. 1 case with a variant in an individual with FSGS but no evidence variant affects protein function. A further case with a patient with compound heterozygous variants in PODXL and congenital nephrotic syndrome.\r\n\r\nPMID: 30523047 - Lin et al 2019 - heterozygous nonsense PODXL mutations in two unrelated pedigrees: c.C976T (p. Arg326X) in a Chinese pedigree that was associated with proteinuria and renal insufficiency, and c.C1133G (p. Ser378X) in a British–Indian AD-FSGS pedigree. They also provide evidence with in vitro study showing that the heterozygous nonsense PODXL mutations may be causative in AD-FSGS.\r\n\r\nPMID: 29244787 - Kang et al 2017 - report a patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL. The 2 variants were a missense mutation at the initiation codon c.3G>T (p.Met1Ile) and a nonsense mutation at c.1023G>A (p.Trp341Ter).\r\n\r\nPMID: 28117080 - Bierzynska et al 2017 - Whole exome sequencing was performed on 187 paediatric patients with Steroid Resistant Nephrotic Syndrome (SRNS). 1 case found with variant in PODXL c.1427A>T:p.His476Leu which is predicted to be deleterious.\r\n\r\nPMID: 24048372 - Barua et al 2014 - exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R. However, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin. \nSources: Literature",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:47:05.068464+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.81",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LAMA5 as Amber List (moderate evidence)",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2020-01-09T14:47:05.040207+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.81",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lama5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMA5",
"entity_type": "gene"
}
]
}