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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=671",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=669",
"results": [
{
"created": "2022-12-12T09:31:16.467277+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptg has been classified as Red List (Low Evidence).",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:31:05.480720+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis III gamma, MIM# 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:30:32.365302+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GLUD1.\nTag endocrine tag was added to gene: GLUD1.",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:30:10.597862+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLUD1 as ready",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:30:10.585337+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glud1 has been classified as Green List (High Evidence).",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:30:06.480644+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLUD1 were set to ",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:28:45.408476+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCFC1 as ready",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:28:45.388581+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Red List (Low Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:28:38.687548+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCFC1 were set to ",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:28:17.600564+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCFC1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:27:58.968737+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HCFC1 as Red List (low evidence)",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:27:58.955521+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Red List (Low Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:25:41.011828+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF1A as ready",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:25:40.996946+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:25:29.855871+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNF1A as Amber List (moderate evidence)",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:25:29.843117+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:25:21.351359+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HNF1A.\nTag endocrine tag was added to gene: HNF1A.",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:25:07.003265+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNF1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: MODY, type III , MIM#600496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:22:41.413835+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF4A as ready",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:22:41.390914+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:22:36.198647+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#\t616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#\t616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850; MODY, type I, OMIM # 125850",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:22:03.322795+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNF4A as Amber List (moderate evidence)",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:22:03.306069+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:21:53.024596+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HNF4A.\nTag endocrine tag was added to gene: HNF4A.",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:21:39.492359+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026, MODY, type I, OMIM # 125850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:17:25.331434+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOMER2 as ready",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:17:25.318862+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: homer2 has been classified as Red List (Low Evidence).",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:17:21.601262+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOMER2 were changed from Autosomal dominant non syndromic deafness to Deafness, autosomal dominant 68, MIM# 616707",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:17:02.639590+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOMER2 as Red List (low evidence)",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:17:02.626478+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: homer2 has been classified as Red List (Low Evidence).",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:16:50.740040+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOMER2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 68, MIM# 616707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:15:17.249684+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS1 as ready",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:15:17.237499+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps1 has been classified as Red List (Low Evidence).",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:15:13.668371+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1 to Hermansky-Pudlak syndrome 1, MIM# 203300",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:15:01.772946+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPS1 as Red List (low evidence)",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:15:01.760485+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps1 has been classified as Red List (Low Evidence).",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:14:50.212187+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:14:06.246763+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS3 as ready",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:14:06.220472+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps3 has been classified as Red List (Low Evidence).",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:13:59.482711+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3 to Hermansky-Pudlak syndrome 3, MIM# 614072",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:13:45.846551+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPS3 as Red List (low evidence)",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:13:45.833967+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps3 has been classified as Red List (Low Evidence).",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:13:34.175823+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:12:47.927917+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS4 as ready",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:12:47.900845+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps4 has been classified as Red List (Low Evidence).",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:12:40.311250+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, MIM# 614073",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:12:28.951831+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPS4 as Red List (low evidence)",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:12:28.939960+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps4 has been classified as Red List (Low Evidence).",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:12:17.976478+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPS4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2022-12-11T22:11:23.559704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.552",
"user_name": "Xinyu Zhang",
"item_type": "entity",
"text": "reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 35646099, 25231368, 27362913; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:18:31.785714+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS5 as ready",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:18:31.774331+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps5 has been classified as Red List (Low Evidence).",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:18:27.903402+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS5 were changed from Hermansky-Pudlak syndrome 5 to Hermansky-Pudlak syndrome 5 (MIM#614074)",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:18:10.577253+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPS5 as Red List (low evidence)",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:18:10.565163+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps5 has been classified as Red List (Low Evidence).",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:17:59.953479+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:15:56.982751+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGA as ready",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:15:56.970211+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piga has been classified as Red List (Low Evidence).",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:15:43.729687+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGA as Red List (low evidence)",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:15:43.713750+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piga has been classified as Red List (Low Evidence).",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:15:31.989862+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:12:33.884469+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B10 as ready",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:12:33.871348+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b10 has been classified as Red List (Low Evidence).",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:12:29.866007+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B10 were changed from 17-beta-hydroxysteroid dehydrogenase X deficiency to HSD10 mitochondrial disease, MIM# 300438",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:12:17.851003+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD17B10 were set to ",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:12:05.880983+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSD17B10 as Red List (low evidence)",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:12:05.865610+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b10 has been classified as Red List (Low Evidence).",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:11:54.286427+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:11:11.377107+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPRT1 as ready",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:11:11.363750+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hprt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:11:01.845704+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome 1 to Lesch-Nyhan syndrome, MIM# 300322",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:10:41.997273+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPRT1 were set to ",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:10:29.321845+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HPRT1.",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:10:21.219170+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPRT1 as Amber List (moderate evidence)",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:10:21.207283+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hprt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:10:05.593115+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Uncertain if these are symptomatic treatments.; to: Uncertain if these are essentially symptomatic treatments.",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:09:55.793428+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: HPRT1: Uncertain if these are symptomatic treatments.",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:08:23.757811+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lesch-Nyhan syndrome, MIM# 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:06:42.010612+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGD as ready",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:06:41.992276+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgd has been classified as Amber List (Moderate Evidence).",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:06:34.376319+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGD were changed from Alkaptonuria to Alkaptonuria MIM#203500",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:06:20.090085+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGD were set to ",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:05:57.165496+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HGD as Amber List (moderate evidence)",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-12-11T18:05:57.145812+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgd has been classified as Amber List (Moderate Evidence).",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-12-11T17:53:53.773847+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1272",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32256299, PMID: 24706016, PMID: 25885527, PMID: 24259184; Phenotypes: hypotonia, infantile epileptic encephalopathy, facial dysmorphism; 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": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-12-11T17:25:24.747588+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1272",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29615062; Phenotypes: leukoencephalopathy, SNHL, neurodenegeration, cardiomyopathy, visual loss; Mode of inheritance: None",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-12-11T17:11:33.485848+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1272",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30143438; Phenotypes: coarse facie, corneal clouding, progressive neurodegeneration, dysostosis multiplex, hepatosplenomegaly, hernias, macrocephaly, cardiac valve involvement, SNHL, upper airways obstruction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2022-12-11T17:02:56.332522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1272",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30143438, PMID: 33004112; Phenotypes: coarse facial features, cardiac valve involvement, hepatosplenomegaly, cardiomyopathy, airway obstruction, hydrocephalus, SNHL, dysostosis multiplex, kyphoscoliosis, progressive cognitive decline; 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": "IDS",
"entity_type": "gene"
},
{
"created": "2022-12-11T16:49:52.634622+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1272",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26079780, PMID: 33757164; Phenotypes: adrenal insufficiency, hypspadias, pseudohermaphroditism in males, mild masculinization in females; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-12-11T16:43:48.440694+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1272",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: HSD17B10: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22127393; Phenotypes: cardiomyopathy, early-onset intractable seizures, progressive choreoathetosis, spastic tetraplegia, optic atrophy, retinal degeneration, intellectual disability; 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": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2022-12-11T16:35:27.693634+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1272",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18067674; Phenotypes: kidney stones, nephrocalcinosis, gout, dystonia, choreoathetosis, ballismus, cognitive impairment, self-injurious behaviour, megaloblastic anaemia; 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": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-11T16:06:14.138294+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1272",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: HGD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34344451, PMID: 12501223, PMID: 12501223; Phenotypes: progressive arthritis, progressive calcific cardiac valve damage, renal stones; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-12-11T14:56:05.859439+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26A were changed from Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-12-11T14:55:39.883850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26A were changed from Cerebral malformation MONDO:0016054, KIF26-related to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-12-11T14:55:06.225426+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF26A: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-12-11T14:54:45.727136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26A were changed from Cerebral malformation MONDO:0016054, KIF26-related to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-12-11T14:54:26.343463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF26A: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-12-11T14:54:10.123258+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26A were changed from Cerebral malformation MONDO:0016054, KIF26-related to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-12-11T14:53:35.558316+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF26A: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-12-11T14:52:36.639028+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFP36L1 were changed from to Oocyte maturation defect 13, MIM# 620154",
"entity_name": "ZFP36L1",
"entity_type": "gene"
}
]
}