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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1761",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1759",
"results": [
{
"created": "2020-06-24T23:26:27.558756+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAPN3 were set to ",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:26:16.261582+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAPN3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:26:04.953402+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937337, 28881388; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129, Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:21:13.502584+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPN3 as Green List (high evidence)",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:21:13.493644+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capn3 has been classified as Green List (High Evidence).",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:19:37.164009+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOSR2 as ready",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:19:37.154513+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gosr2 has been classified as Red List (Low Evidence).",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:19:33.042042+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GOSR2 as Red List (low evidence)",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:19:33.027887+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gosr2 has been classified as Red List (Low Evidence).",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:20:21.008146+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSTO1 as ready",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:20:21.001574+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Green for bi-allelic disease.",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:20:20.950841+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msto1 has been classified as Green List (High Evidence).",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:19:46.690675+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSTO1 as Green List (high evidence)",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:19:46.681477+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msto1 has been classified as Green List (High Evidence).",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:18:50.269938+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:18:32.942086+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOLGA2 as ready",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:18:32.929520+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga2 has been classified as Green List (High Evidence).",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:18:22.631179+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GOLGA2 as Green List (high evidence)",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:18:22.621753+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga2 has been classified as Green List (High Evidence).",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:17:29.446728+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:16:57.147608+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOLGA2 as ready",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:16:57.131003+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga2 has been classified as Green List (High Evidence).",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:16:52.730449+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GOLGA2 as Green List (high evidence)",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:16:52.721513+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga2 has been classified as Green List (High Evidence).",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:14:58.319780+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOLGA2 as ready",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:14:58.305123+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga2 has been classified as Green List (High Evidence).",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:14:54.615952+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GOLGA2 as Green List (high evidence)",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:14:54.603678+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga2 has been classified as Green List (High Evidence).",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:14:06.107068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOLGA2 were changed from Nueromuscular disorder to Neuromuscular disorder",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:13:44.256291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOLGA2 as ready",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:13:44.242363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga2 has been classified as Green List (High Evidence).",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:13:21.677906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GOLGA2 as Green List (high evidence)",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:13:21.668645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga2 has been classified as Green List (High Evidence).",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:06:49.244454+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FHL1 as ready",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:06:49.231504+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fhl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:06:45.124101+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FHL1 as Amber List (moderate evidence)",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:06:45.109885+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fhl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:05:23.235327+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:05:13.235641+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEC as ready",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:05:13.225609+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plec has been classified as Green List (High Evidence).",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:05:08.630797+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEC as Green List (high evidence)",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:05:08.616508+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plec has been classified as Green List (High Evidence).",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:04:04.839212+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMD as ready",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:04:04.829913+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Green List (High Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:03:23.424335+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMD as Green List (high evidence)",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-06-24T19:03:23.411718+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Green List (High Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:55:52.246526+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POGLUT1 as ready",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:55:52.234291+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poglut1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:55:49.197758+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POGLUT1 were changed from Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232)",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:55:37.132135+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POGLUT1 were set to ",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:55:29.293851+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POGLUT1 as Amber List (moderate evidence)",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:55:29.284287+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poglut1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:54:11.420871+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR1 as ready",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:54:11.410189+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Red List (Low Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:54:08.641769+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR1 were changed from to Central core disease (MIM#117000); Minicore myopathy with external ophthalmoplegia (MIM#255320); Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:53:39.977332+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RYR1 were set to ",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:53:15.528057+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:52:43.912466+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RYR1 as Red List (low evidence)",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:52:43.899082+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Red List (Low Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:52:14.459828+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:49:44.274040+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIL1 as ready",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:49:44.260498+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sil1 has been classified as Green List (High Evidence).",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:49:40.134829+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome (MIM#248800)",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:49:08.660651+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIL1 were set to ",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:48:34.116517+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:47:49.571722+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIL1 as ready",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:47:49.558391+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sil1 has been classified as Green List (High Evidence).",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:47:47.026004+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome (MIM#248800)",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:47:18.519831+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIL1 were set to ",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:46:49.848795+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:44:35.546813+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIL1 as ready",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:44:35.535397+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sil1 has been classified as Green List (High Evidence).",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:44:13.390348+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIL1 as Green List (high evidence)",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:44:13.377699+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sil1 has been classified as Green List (High Evidence).",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:43:42.086439+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:41:16.475697+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCAP as ready",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:41:16.465933+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcap has been classified as Green List (High Evidence).",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:41:13.621903+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCAP were set to ",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:40:50.165214+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCAP as ready",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:40:50.152276+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcap has been classified as Red List (Low Evidence).",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:40:47.156715+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCAP were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954)",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:40:19.347802+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCAP were set to ",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:39:50.094135+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:39:22.595738+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCAP as Red List (low evidence)",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:39:22.583157+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcap has been classified as Red List (Low Evidence).",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:34:17.128118+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPM1 as ready",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:34:17.113539+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm1 has been classified as Green List (High Evidence).",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:34:12.836944+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPM1 as Green List (high evidence)",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:34:12.828004+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm1 has been classified as Green List (High Evidence).",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:23:55.361748+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC11 as ready",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:23:55.348188+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc11 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:23:52.521365+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC11 were set to ",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:23:17.398682+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC11 as ready",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:23:17.388878+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc11 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:23:12.853453+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAPPC11 as Green List (high evidence)",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-06-24T18:23:12.844189+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc11 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-06-24T16:24:14.406836+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SGCG was added\ngene: SGCG was added to Muscular dystrophy. Sources: Literature\nMode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGCG were set to PMID: 30838351; 25802879\nPhenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, autosomal recessive 5\t253700\nReview for gene: SGCG was set to AMBER\nAdded comment: PMID: 30838351 - 7 patients with childhood onset limb girdle MD and biallelic variants. Muscle biopsy supported the diagnosis. Mild proximal muscle weakness and increased serum creatine kinase levels \r\n\r\nPMID: 25802879 - 2 unrelated patients with a founder missense variant (p.E263K). Patients had childhood onset, with proximal muscle weakness in pelvic girdle muscles and highly elevated CK levels.\r\n\r\nSummary: Childhood onset limb girdle rather than muscular dystrophy \nSources: Literature",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2020-06-24T16:06:14.597486+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CAPN3 was added\ngene: CAPN3 was added to Muscular dystrophy. Sources: Literature\nMode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPN3 were set to PMID: 31937337\nPhenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 1\t253600\nReview for gene: CAPN3 was set to GREEN\nAdded comment: PMID: 31937337 - 15 families with limb girdle muscular dystrophy. 13/15 report childhood onset in multiple affected children, where EMG confirmed a myopathic disorder, with mild-severe dystrophic changes. \nSources: Literature",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:48:41.848432+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30363482, 29855340; Phenotypes: Epilepsy, progressive myoclonic 6 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:46:20.355047+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GOSR2",
"entity_type": "gene"
}
]
}