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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=491",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=489",
"results": [
{
"created": "2024-02-13T16:38:55.451434+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5d has been classified as Green List (High Evidence).",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:38:49.618877+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R5D were set to ",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:38:09.443025+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R5D as Green List (high evidence)",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:38:09.431001+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5d has been classified as Green List (High Evidence).",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:36:53.997694+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT2 as ready",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:36:53.979532+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:36:47.418309+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMGNT2 as Amber List (moderate evidence)",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:36:47.407712+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:36:08.754015+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:33:20.946840+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POGZ as ready",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:33:20.935507+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pogz has been classified as Green List (High Evidence).",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:33:08.160604+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POGZ as Green List (high evidence)",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:33:08.144755+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pogz has been classified as Green List (High Evidence).",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:32:08.224727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNC1 as ready",
"entity_name": "PLXNC1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:32:08.209027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnc1 has been classified as Red List (Low Evidence).",
"entity_name": "PLXNC1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:31:57.782337+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLXNC1 was added\ngene: PLXNC1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PLXNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLXNC1 were set to 36808730\nPhenotypes for gene: PLXNC1 were set to Malformations of cortical development\nReview for gene: PLXNC1 was set to RED\nAdded comment: This gene was included in the genes4epilepsy resource (PMID:36808730) and was reported as being associated with the clinical phenotype \"malformations of cortical development\". There are no current PubMed articles linking this gene with epilepsy however \nSources: Expert list",
"entity_name": "PLXNC1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:31:34.988800+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNC1 as ready",
"entity_name": "PLXNC1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:31:34.980516+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnc1 has been classified as Red List (Low Evidence).",
"entity_name": "PLXNC1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:31:25.454318+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLXNC1 as Red List (low evidence)",
"entity_name": "PLXNC1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:31:25.440978+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnc1 has been classified as Red List (Low Evidence).",
"entity_name": "PLXNC1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:25:32.271886+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX13 as ready",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:25:32.260182+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex13 has been classified as Green List (High Evidence).",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:25:25.729630+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX13 as Green List (high evidence)",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:25:25.720777+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex13 has been classified as Green List (High Evidence).",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:23:58.556421+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX10 as ready",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:23:58.537758+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Red List (Low Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:23:24.416560+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX10 as Red List (low evidence)",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:23:24.405113+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Red List (Low Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:22:24.951282+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCLO as ready",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:22:24.931617+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pclo has been classified as Red List (Low Evidence).",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:22:17.508515+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCLO as Red List (low evidence)",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:22:17.499553+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pclo has been classified as Red List (Low Evidence).",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:20:40.872159+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX6 as ready",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:20:40.846897+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:20:35.143227+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX6 as Amber List (moderate evidence)",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:20:35.128505+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:18:43.303752+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAK3 as ready",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:18:43.294539+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:18:37.763985+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAK3 as Amber List (moderate evidence)",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:18:37.751430+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:17:03.269851+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OFD1 as ready",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:17:03.254170+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:16:56.423925+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OFD1 as Amber List (moderate evidence)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:16:56.412318+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:12:16.056265+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F1 as ready",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:12:16.044526+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Green List (High Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:11:25.890823+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR2F1 as Green List (high evidence)",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:11:25.878949+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Green List (High Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:01:27.777462+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NF1 as ready",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:01:27.769506+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:01:20.805251+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NF1 as Amber List (moderate evidence)",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:01:20.784508+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:00:29.040955+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM3AP as ready",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:00:29.029284+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm3ap has been classified as Red List (Low Evidence).",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:00:23.468142+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM3AP as Red List (low evidence)",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2024-02-13T16:00:23.451795+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm3ap has been classified as Red List (Low Evidence).",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:58:55.899409+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRPPRC as ready",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:58:55.875907+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrpprc has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:58:44.373056+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRPPRC as Amber List (moderate evidence)",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:58:44.355096+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrpprc has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:57:18.329619+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL3A1 as ready",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:57:18.308393+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:57:11.917788+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL3A1 as Green List (high evidence)",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:57:11.907746+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:55:29.498118+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD1 as ready",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:55:29.489951+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd1 has been classified as Green List (High Evidence).",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:55:12.782909+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD1 as Green List (high evidence)",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:55:12.770425+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd1 has been classified as Green List (High Evidence).",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:50:38.674473+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SERAC1 as Green List (high evidence)",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:50:38.663142+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serac1 has been classified as Green List (High Evidence).",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:45:17.409462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASZ1 as ready",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:45:17.396450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casz1 has been classified as Green List (High Evidence).",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:44:53.800798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASZ1 as Green List (high evidence)",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:44:53.789104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casz1 has been classified as Green List (High Evidence).",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:44:36.382745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASZ1 was added\ngene: CASZ1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CASZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CASZ1 were set to 28099117; 36293425; 31268246\nPhenotypes for gene: CASZ1 were set to Dilated cardiomyopathy, MONDO:0005021, CASZ1-related; left ventricular non compaction\nReview for gene: CASZ1 was set to GREEN\nAdded comment: Rare cause of paeditric onsent DCM. at least 3 papers report LoF variants, 2 of which each report a novel de novo frameshift variant in children diagnosed with DCM less than 1 and who died at 11 mths ( PMID: 31268246; Guo 2019) and 22mths (PMID: 36293425, Orlova 2022). Another paper (PMID: 28099117, Qiu 2017) reported a nonsense variant that segregated with DCM in a family in an AD fashion (full text not available). \nSources: Expert list",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:41:45.814576+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASZ1 as ready",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:41:45.804987+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casz1 has been classified as Green List (High Evidence).",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:41:32.991399+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASZ1 were changed from dilated cardiomyopathy, left ventricular non compaction to Dilated cardiomyopathy, MONDO:0005021, CASZ1-related; left ventricular non compaction",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:37:32.744972+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASZ1 as Green List (high evidence)",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:37:32.713434+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casz1 has been classified as Green List (High Evidence).",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:35:20.294523+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRCAP as Green List (high evidence)",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:35:20.283981+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srcap has been classified as Green List (High Evidence).",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:34:17.267232+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMC3 were set to 18996922; 25655089; 31334757",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:27:22.150411+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNE1 were changed from Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:26:07.561746+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:23:43.462379+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAF1C as ready",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:23:43.451140+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:22:19.552724+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAOK1 as ready",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:22:19.540303+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taok1 has been classified as Red List (Low Evidence).",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:19:44.856325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB9 were set to 22200994",
"entity_name": "NDUFB9",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:19:12.793542+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFB9: Added comment: PMID: 38129218: Thr144Met, listed as ACMG-P, hom in 1x pt with mito complex I deficiency and leukodystrophy, no functional studies, both parents are het. However, this variant has 2 homozygotes in gnomADv4, so unlikely pathogenic.; Changed publications: 22200994, 38129218",
"entity_name": "NDUFB9",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:18:21.781858+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB9 were set to ",
"entity_name": "NDUFB9",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:17:36.697794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB9 were set to 22200994",
"entity_name": "NDUFB9",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:17:13.058091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFB9: Added comment: PMID: 38129218: Thr144Met, listed as ACMG-P, hom in 1x pt with mito complex I deficiency and leukodystrophy, no functional studies, both parents are het.\r\n\r\nHowever, this variant has 2 homozygotes in gnomADv4 so unlikely pathogenic.; Changed publications: 22200994, 38129218",
"entity_name": "NDUFB9",
"entity_type": "gene"
},
{
"created": "2024-02-13T15:08:05.392220+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.915",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 38129218; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NDUFB9",
"entity_type": "gene"
},
{
"created": "2024-02-13T13:39:22.625076+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.68",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: NEK8 as Green List (high evidence)",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2024-02-13T13:39:22.616496+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.68",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: nek8 has been classified as Green List (High Evidence).",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2024-02-13T13:39:03.454740+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.67",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: NEK8 were set to Unpublished ESHG presentation",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2024-02-12T15:44:53.716603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1529",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DNM2: Rating: RED; Mode of pathogenicity: None; Publications: 23092955; Phenotypes: fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO:0014149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2024-02-09T16:48:48.966638+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NALCN as ready",
"entity_name": "NALCN",
"entity_type": "gene"
}
]
}