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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1944",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1942",
"results": [
{
"created": "2020-02-03T19:17:58.400506+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl12 has been classified as Red List (Low Evidence).",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:17:11.603820+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPL12: Rating: RED; Mode of pathogenicity: None; Publications: 23603806; Phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:14:08.474762+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYRM4 as ready",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:14:08.463966+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyrm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:13:42.124664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYRM4 as ready",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:13:42.114154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyrm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:13:29.310816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYRM4 were changed from to Combined oxidative phosphorylation deficiency 19, MIM# 615595",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:13:04.819568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LYRM4 were set to ",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:12:42.676861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LYRM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:12:26.411019+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYRM4 were changed from to Combined oxidative phosphorylation deficiency 19, MIM# 615595",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:12:16.694888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LYRM4 as Amber List (moderate evidence)",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:12:16.683184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyrm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:11:51.968978+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LYRM4 were set to ",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:11:49.005228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LYRM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 23814038, 31497476; Phenotypes: Combined oxidative phosphorylation deficiency 19, MIM# 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:11:23.462904+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LYRM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:10:11.768714+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LYRM4 as Amber List (moderate evidence)",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:10:11.758230+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyrm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:09:28.264391+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LYRM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 23814038, 31497476; Phenotypes: Combined oxidative phosphorylation deficiency 19, MIM# 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM4",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:05:15.597414+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX8A as ready",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:05:15.586577+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox8a has been classified as Red List (Low Evidence).",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:04:56.501866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX8A as ready",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:04:56.491209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox8a has been classified as Red List (Low Evidence).",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:04:44.382039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX8A were changed from to Mitochondrial complex IV deficiency, MIM# 220110",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:04:20.533425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX8A were set to ",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:03:59.724845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:03:40.709895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX8A as Red List (low evidence)",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:03:40.698914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox8a has been classified as Red List (Low Evidence).",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:03:21.513016+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX8A were changed from to Mitochondrial complex IV deficiency, MIM# 220110",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:03:21.486147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX8A: Rating: RED; Mode of pathogenicity: None; Publications: 26685157; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:02:08.653982+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:01:32.374232+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX8A were set to ",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:00:53.682899+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX8A as Red List (low evidence)",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:00:53.672358+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox8a has been classified as Red List (Low Evidence).",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:00:09.410766+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX8A: Rating: RED; Mode of pathogenicity: None; Publications: 26685157; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: None",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:58:00.696227+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COA5 as ready",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:58:00.685476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa5 has been classified as Red List (Low Evidence).",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:57:46.901886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COA5 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:57:29.799985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COA5 were set to ",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:57:10.038379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:56:52.094912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COA5 as Red List (low evidence)",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:56:52.084576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa5 has been classified as Red List (Low Evidence).",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:54:41.198865+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:54:07.113495+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COA5 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:53:24.221391+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COA5 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:52:33.794979+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COA5 were set to ",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:51:57.921446+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:51:27.931095+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COA5 as Red List (low evidence)",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:51:27.920450+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa5 has been classified as Red List (Low Evidence).",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:50:46.713564+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:47:52.592684+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COA5 as ready",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:47:52.582653+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa5 has been classified as Red List (Low Evidence).",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:47:46.254602+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COA5 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:47:14.408791+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COA5 were set to ",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:46:39.396671+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:46:07.999178+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COA5 as Red List (low evidence)",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:46:07.988327+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa5 has been classified as Red List (Low Evidence).",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:45:27.074861+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:40:04.546271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN5 as ready",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:40:04.535088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn5 has been classified as Green List (High Evidence).",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:39:51.368504+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN5 were changed from to Dent disease, MIM#300009; Hypophosphatemic rickets, MIM#300554; Nephrolithiasis, type I, MIM#310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:38:40.592314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:38:20.074319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009, Hypophosphatemic rickets, MIM#300554, Nephrolithiasis, type I, MIM#310468, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:29:20.964453+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHEX as ready",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:29:20.953601+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phex has been classified as Green List (High Evidence).",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:29:04.212649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHEX were changed from to Hypophosphatemic rickets, MIM#307800",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:28:38.974298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHEX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:28:16.795213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets, MIM#307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:25:18.969483+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHEX as ready",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:25:18.959049+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phex has been classified as Green List (High Evidence).",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:25:11.481256+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHEX were changed from to Hypophosphatemic rickets, MIM#307800",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:19:26.614189+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHEX were set to ",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T18:18:54.649771+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHEX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:48:42.269535+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:48:42.258622+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:48:37.182912+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:48:06.072016+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:47:32.697045+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:46:20.247502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EHMT1 as ready",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:46:20.234933+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehmt1 has been classified as Green List (High Evidence).",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:46:11.788391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1 (MIM#610253)",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:45:37.280425+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EHMT1 as ready",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:45:37.269833+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehmt1 has been classified as Green List (High Evidence).",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:45:31.032316+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHMT1 were changed from Kleefstra syndrome 1 (MIM#610253) to Kleefstra syndrome 1 (MIM#610253)",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:44:54.438501+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1 (MIM#610253)",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:43:41.009232+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:43:01.295434+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kleefstra syndrome 1 (MIM#610253); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:42:57.716643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EHMT1 were set to ",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:42:05.535106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:37:55.348299+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNC as ready",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:37:55.337807+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:37:50.887544+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNC as Green List (high evidence)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:37:50.876966+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:36:45.446457+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1185",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19264732; Phenotypes: Kleefstra syndrome 1 (MIM#610253); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:30:12.799782+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNC was added\ngene: FLNC was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert Review\nMode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FLNC were set to 31924696; 28356264\nPhenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26\nReview for gene: FLNC was set to GREEN\nAdded comment: Multiple affected individuals with cardiomyopathy, including HOCM reported. \nSources: Expert Review",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:27:07.350127+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.33",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21541725; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-03T16:20:04.859682+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.1",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12727977, 30682568; Phenotypes: Hypophosphatemic rickets; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:54:29.854028+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTO as ready",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:54:29.843545+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fto has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:54:13.435716+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, facial dysmorphism, MIM# 612938 to Growth retardation, developmental delay, facial dysmorphism, MIM# 612938",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:53:31.365792+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTO",
"entity_type": "gene"
}
]
}