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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=593",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=591",
"results": [
{
"created": "2023-06-01T20:09:06.893461+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PAX7 as ready",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:09:06.877797+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pax7 has been classified as Green List (High Evidence).",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:08:50.347713+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PAX7 as Green List (high evidence)",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:08:50.329695+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pax7 has been classified as Green List (High Evidence).",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:08:03.774126+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NEB as ready",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:08:03.754889+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: neb has been classified as Green List (High Evidence).",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:07:53.683245+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NEB as Green List (high evidence)",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:07:53.671529+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: neb has been classified as Green List (High Evidence).",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:07:16.214159+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYPN as ready",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:07:16.204002+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mypn has been classified as Green List (High Evidence).",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:07:12.116061+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYPN as Green List (high evidence)",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:07:12.105541+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mypn has been classified as Green List (High Evidence).",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:06:25.049238+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYOD1 as ready",
"entity_name": "MYOD1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:06:25.038141+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myod1 has been classified as Green List (High Evidence).",
"entity_name": "MYOD1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:06:01.468857+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYOD1 as Green List (high evidence)",
"entity_name": "MYOD1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:06:01.430459+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myod1 has been classified as Green List (High Evidence).",
"entity_name": "MYOD1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:04:56.491597+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYL1 as ready",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:04:56.479926+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:04:41.334593+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYL1 as Amber List (moderate evidence)",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:04:41.327102+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:03:29.158891+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MYL1 were set to 30275711",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:01:03.592841+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYBPC1 as ready",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:01:03.584192+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mybpc1 has been classified as Green List (High Evidence).",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:00:36.583578+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYBPC1 as Green List (high evidence)",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T20:00:36.566349+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mybpc1 has been classified as Green List (High Evidence).",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T19:59:41.033273+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MTMR14 as ready",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2023-06-01T19:59:41.022626+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtmr14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2023-06-01T19:54:39.757131+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTMR14 as Amber List (moderate evidence)",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2023-06-01T19:54:39.748831+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtmr14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2023-06-01T17:37:41.394518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFATC1 as ready",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T17:37:41.385449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfatc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T17:37:31.815399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFATC1 as Amber List (moderate evidence)",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T17:37:31.799761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfatc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T17:37:12.431873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFATC1 was added\ngene: NFATC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFATC1 were set to 37249233\nPhenotypes for gene: NFATC1 were set to Inborn error of immunity, MONDO:0003778, NFATC1-related; Combined Immune deficiency\nReview for gene: NFATC1 was set to AMBER\nAdded comment: 3 individuals from a multigenerational consanguineous pedigree with early-onset sinopulmonary infections and bronchiectasis, recurrent viral (warts) and bacterial (folliculitis and abscesses) skin infections, hypogammaglobulinemia, lower CD4+/CD8+ T-cell ratio and lower recent thymic emigrants compared with the age-matched controls. Lymphocyte proliferation responses to PHA and CD3/CD28 stimulations were defective.\r\n\r\nSingle pedigree with supportive functional studies. \nSources: Literature",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T17:34:29.954601+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFATC1 as ready",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T17:34:29.946196+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfatc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T17:34:23.330736+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFATC1 were changed from Combined Immune deficiency to Inborn error of immunity, MONDO:0003778, NFATC1-related; Combined Immune deficiency",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T17:32:56.848753+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFATC1 as Amber List (moderate evidence)",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T17:32:56.836605+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfatc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:36:39.827637+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MAP3K20 as ready",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:36:39.801906+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: map3k20 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:36:36.578817+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MAP3K20 as Green List (high evidence)",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:36:36.568144+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: map3k20 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:35:29.165084+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LMOD3 as ready",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:35:29.154685+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmod3 has been classified as Green List (High Evidence).",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:35:23.455145+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LMOD3 as Green List (high evidence)",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:35:23.444417+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmod3 has been classified as Green List (High Evidence).",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:34:36.180780+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KLHL41 as ready",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:34:36.167733+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klhl41 has been classified as Green List (High Evidence).",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:33:30.812294+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KLHL41 as Green List (high evidence)",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:33:30.804283+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klhl41 has been classified as Green List (High Evidence).",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:32:42.404214+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KLHL40 as ready",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:32:42.393628+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klhl40 has been classified as Green List (High Evidence).",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:32:29.239846+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KLHL40 as Green List (high evidence)",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:32:29.216279+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klhl40 has been classified as Green List (High Evidence).",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:31:32.267622+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KBTBD13 as ready",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:31:32.233938+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kbtbd13 has been classified as Green List (High Evidence).",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:31:23.884575+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KBTBD13 as Green List (high evidence)",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:31:23.864631+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kbtbd13 has been classified as Green List (High Evidence).",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:30:42.558056+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HRAS as ready",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:30:42.543963+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hras has been classified as Amber List (Moderate Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:30:39.061617+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HRAS as Amber List (moderate evidence)",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:30:39.050055+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hras has been classified as Amber List (Moderate Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:28:48.741836+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.154",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: EPG5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:28:23.782920+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HACD1 as ready",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:28:23.760379+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hacd1 has been classified as Green List (High Evidence).",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:28:17.746551+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HACD1 as Green List (high evidence)",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:28:17.735389+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hacd1 has been classified as Green List (High Evidence).",
"entity_name": "HACD1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:27:18.502105+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FXR1 as ready",
"entity_name": "FXR1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:27:18.488711+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fxr1 has been classified as Green List (High Evidence).",
"entity_name": "FXR1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:26:42.405476+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FXR1 as Green List (high evidence)",
"entity_name": "FXR1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:26:42.397632+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fxr1 has been classified as Green List (High Evidence).",
"entity_name": "FXR1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:25:50.230291+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:25:50.220233+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:24:36.146174+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EPG5 as Green List (high evidence)",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:24:36.135880+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:24:02.747896+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:16:27.088505+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DYNC1H1 as ready",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:16:27.077871+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dync1h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:16:19.097457+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DYNC1H1 as Green List (high evidence)",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:16:19.090016+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dync1h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:15:28.861387+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DNM2 as ready",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:15:28.847953+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Green List (High Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:14:53.075502+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DNM2 as Green List (high evidence)",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:14:53.066267+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Green List (High Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:14:14.485888+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DHX16 as ready",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:14:14.468963+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dhx16 has been classified as Red List (Low Evidence).",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:14:07.235444+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DHX16 as Red List (low evidence)",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:14:07.207571+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dhx16 has been classified as Red List (Low Evidence).",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:10:32.917588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.926",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CNTN1 were changed from Myopathy, congenital, Compton-North 612540 to Compton-North congenital myopathy MONDO:0012929; fetal akinesia deformation sequence MONDO:0008824",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:10:31.228333+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CNTN1 as ready",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:10:31.184756+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:10:30.897163+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CNTN1 as Amber List (moderate evidence)",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:10:30.887872+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:09:59.003693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.925",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CNTN1 were set to 19026398",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:09:43.719443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.924",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CNTN1 as Green List (high evidence)",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:09:43.701982+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.924",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cntn1 has been classified as Green List (High Evidence).",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-06-01T16:09:23.944142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CNTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026398, 10595523, 22242131, 32779773; Phenotypes: Compton-North congenital myopathy MONDO:0012929, fetal akinesia deformation sequence MONDO:0008824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2023-06-01T15:09:01.930858+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDP1 as ready",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2023-06-01T15:09:01.917670+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdp1 has been classified as Green List (High Evidence).",
"entity_name": "PDP1",
"entity_type": "gene"
}
]
}