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{
"count": 220257,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1382",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1380",
"results": [
{
"created": "2021-03-18T09:19:37.145314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3GL were changed from endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy to Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM), MIM#619234; endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy",
"entity_name": "POLR3GL",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:19:08.051741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR3GL: Changed rating: AMBER; Changed phenotypes: Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM), MIM#619234",
"entity_name": "POLR3GL",
"entity_type": "gene"
},
{
"created": "2021-03-17T22:03:36.434467+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.48",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "changed review comment from: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper, no specific details regarding variant outlined in paper) - PMID: 32819795); to: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper, no specific details regarding variant outlined in paper) - PMID: 32819795)",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-17T22:03:30.663521+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.48",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "changed review comment from: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper hence details of this case are unclear - PMID: 32819795); to: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper, no specific details regarding variant outlined in paper) - PMID: 32819795)",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-17T22:02:35.215486+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.48",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-17T22:02:27.938205+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.48",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "edited their review of gene: ZAP70: Added comment: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper hence details of this case are unclear - PMID: 32819795); Changed publications: 26783323, 32819795, 32633164",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:32:39.004671+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INVS as ready",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:32:38.991069+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: invs has been classified as Green List (High Evidence).",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:32:23.381648+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:31:43.631382+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INVS were set to ",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:30:49.678605+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INVS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:30:29.153920+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:29:35.540295+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INVS as ready",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:29:35.523826+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: invs has been classified as Green List (High Evidence).",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:29:31.173981+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:28:59.648767+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INVS were set to ",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:28:14.884016+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:27:26.035302+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INVS as ready",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:27:26.027126+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: invs has been classified as Green List (High Evidence).",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:27:18.667429+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:26:54.942001+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INVS were set to ",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:10:58.962968+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:10:07.968243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INVS as ready",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:10:07.953975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: invs has been classified as Green List (High Evidence).",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:09:52.136740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:07:23.239169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INVS were set to ",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T21:07:01.226595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T18:08:55.488590+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.93",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T18:08:46.757421+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.232",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T18:08:26.853789+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.125",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T18:02:46.276206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6755",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-03-17T17:10:29.148866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6755",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZCCHC8 as ready",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2021-03-17T17:10:29.137541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6755",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zcchc8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2021-03-17T17:10:22.469186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6755",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZCCHC8 as Amber List (moderate evidence)",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2021-03-17T17:10:22.459162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6755",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zcchc8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2021-03-17T17:10:04.393578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6754",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZCCHC8 was added\ngene: ZCCHC8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZCCHC8 were set to 31488579\nPhenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis\nReview for gene: ZCCHC8 was set to AMBER\nAdded comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model. \nSources: Literature",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2021-03-17T17:08:33.454582+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZCCHC8 as ready",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2021-03-17T17:08:33.442205+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zcchc8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2021-03-17T17:08:27.421441+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZCCHC8 as Amber List (moderate evidence)",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2021-03-17T17:08:27.413767+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zcchc8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2021-03-17T17:08:00.364691+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZCCHC8 was added\ngene: ZCCHC8 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Other\nMode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZCCHC8 were set to 31488579\nPhenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis\nReview for gene: ZCCHC8 was set to AMBER\nAdded comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model. \nSources: Other",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:39:59.977146+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A10 as ready",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:39:59.963019+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:39:54.963784+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A10 were changed from 208050; Moyamoya disease; Arterial tortuosity syndrome to Arterial tortuosity syndrome 208050; Moyamoya disease",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:00:46.649956+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:59:25.440951+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN5A as ready",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:59:25.427577+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Green List (High Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:58:57.361389+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROC as ready",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:58:57.351401+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: proc has been classified as Green List (High Evidence).",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:58:39.953086+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:58:39.942918+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:58:36.401437+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from to POLG-related MELAS",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:58:27.367801+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG were set to ",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:58:07.190819+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 31425757, 27838477; Phenotypes: POLG-related MELAS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:54:18.988252+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDCD10 as ready",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:54:18.977044+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd10 has been classified as Green List (High Evidence).",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:53:06.886232+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCCB as ready",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:53:06.875948+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pccb has been classified as Green List (High Evidence).",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:46:26.317183+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCCB were changed from to Propionicacidemia, MIM#\t606054",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:42:34.798723+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCCA as ready",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:42:34.784379+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcca has been classified as Green List (High Evidence).",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:42:11.560422+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCCA were changed from to Propionicacidemia\t606054",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:41:31.878407+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTC as ready",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:41:31.867813+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otc has been classified as Green List (High Evidence).",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:41:29.647790+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTC were changed from Ornithine carbamoyltransferase deficiency to Ornithine carbamoyltransferase deficiency, MIM# 311250",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:41:12.654410+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTC were set to ",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:40:45.386261+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTC was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:40:35.363660+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTC: Changed rating: GREEN",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:40:23.443527+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTC: Rating: ; Mode of pathogenicity: None; Publications: 32008222, 24850570, 23640148; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:36:04.679066+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NF1 as ready",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:36:04.666467+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:35:22.962037+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH11 as ready",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:35:22.952279+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh11 has been classified as Red List (Low Evidence).",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:34:51.093167+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4 to Aortic aneurysm, familial thoracic 4, MIM# 132900",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:34:32.106146+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYH11 as Red List (low evidence)",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:34:32.095874+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh11 has been classified as Red List (Low Evidence).",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:34:20.219213+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:04:50.920867+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUT as ready",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:04:50.909041+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mut has been classified as Green List (High Evidence).",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:04:46.626617+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MUT were changed from Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MIM# 251000",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:04:25.816844+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2021-03-17T13:42:10.923408+11:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MET as ready",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2021-03-17T13:42:10.915298+11:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: met has been classified as Amber List (Moderate Evidence).",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2021-03-17T13:42:01.257442+11:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MET as Amber List (moderate evidence)",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2021-03-17T13:42:01.245485+11:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: met has been classified as Amber List (Moderate Evidence).",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2021-03-17T10:29:56.915484+11:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.1",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "gene: MET was added\ngene: MET was added to Vascular Malformations_Somatic. Sources: Literature\nMode of inheritance for gene: MET was set to Other\nPublications for gene: MET were set to PMID: 32858245\nPhenotypes for gene: MET were set to lymphovenous malformation; overgrowth\nMode of pathogenicity for gene: MET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MET was set to AMBER\nAdded comment: MET c.3029C>T p. (The1010Ile) found in three unrelated cases and\r\nc.3082G>A; p.(Asp1028Asn) found in one case, via cfDNA analysis at very low allele fraction (<1%)\r\n\r\nHowever authors state: The prevalence of the MET p.T1010I mutation in the population overall is 0.07% according to the Exome Aggregation Consortium and 1.1% in the European population.\r\n\r\n1010 is located in exon 14, which is subjected to exon skipping in certain isoforms. Unclear if causative for this phenotype based on very low VAF and transcript/isoform issues, as well as population frequency. \nSources: Literature",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2021-03-17T09:01:10.877993+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5B as ready",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T09:01:10.867599+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5b has been classified as Green List (High Evidence).",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T09:01:07.524661+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5B were changed from to Intellectual disability and/or autism, autosomal dominant",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T09:00:36.535221+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM5B were set to ",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T09:00:07.080361+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:59:36.058379+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276005, 30217758, 30409806; Phenotypes: Intellectual disability and/or autism, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:27:35.798418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, Intellectual disability and/or autism, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:26:54.667411+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDM5B: Changed phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, Intellectual disability and/or autism, autosomal dominant",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:26:40.783471+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5B as ready",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:26:40.771475+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5b has been classified as Green List (High Evidence).",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:26:35.778459+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5B were changed from to Mental retardation, autosomal recessive 65 MIM#618109; Intellectual disability and/or autism, autosomal dominant",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:25:53.667272+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM5B were set to ",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:25:14.966503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM5B was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:24:39.996635+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276005, 30217758, 30409806; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, autosomal dominant autism spectrum disorder or intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KDM5B",
"entity_type": "gene"
}
]
}