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{
"count": 221276,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=687",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=685",
"results": [
{
"created": "2022-11-24T09:42:51.654737+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT14 as ready",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:42:51.633984+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt14 has been classified as Red List (Low Evidence).",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:42:46.806249+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:42:34.778349+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT14 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:42:25.081094+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT14 as Red List (low evidence)",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:42:25.067900+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt14 has been classified as Red List (Low Evidence).",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:42:13.301830+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:40:36.780492+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT16 as ready",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:40:36.767877+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt16 has been classified as Red List (Low Evidence).",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:40:31.620743+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT16 were changed from Pachyonychia congenita to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200)",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:40:19.317887+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT16 as Red List (low evidence)",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:40:19.302896+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt16 has been classified as Red List (Low Evidence).",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:40:08.135950+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:39:12.349130+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT17 as ready",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:39:12.337034+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt17 has been classified as Red List (Low Evidence).",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:39:09.068961+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT17 were changed from Pachyonychia congenita to Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:38:56.397325+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT17 as Red List (low evidence)",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:38:56.382402+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt17 has been classified as Red List (Low Evidence).",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:38:44.941857+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:37:26.454226+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT5 as ready",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:37:26.441504+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt5 has been classified as Red List (Low Evidence).",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:37:22.791526+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT5 were changed from Epidermolysis bullosa simplex to Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:37:04.692402+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:36:53.462393+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT5 as Red List (low evidence)",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:36:53.448217+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt5 has been classified as Red List (Low Evidence).",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:36:42.024401+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dowling-Degos disease 1, MIM# 179850, Epidermolysis bullosa simplex-MCR, MIM# 609352, Epidermolysis bullosa simplex-MP 131960, Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760, Epidermolysis bullosa simplex, Koebner type, MIM# 131900, Epidermolysis bullosa simplex, recessive 1, MIM# 601001, Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:35:11.273356+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT6A as ready",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:35:11.253832+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt6a has been classified as Red List (Low Evidence).",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:35:03.966267+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT6A were changed from Pachyonychia congenita to Pachyonychia congenita 3 (MIM#615726)",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:34:51.992021+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT6A as Red List (low evidence)",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:34:51.976971+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt6a has been classified as Red List (Low Evidence).",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2022-11-24T09:34:39.829761+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:32:33.225302+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN11 as ready",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:32:33.209872+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Red List (Low Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:32:29.332949+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN11 were changed from Noonan syndrome to Noonan syndrome 1, MIM# 163950",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:32:15.831949+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPN11 as Red List (low evidence)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:32:15.820365+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Red List (Low Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:32:01.802623+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 1, MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:21:52.755193+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRAS as ready",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:21:52.742737+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kras has been classified as Red List (Low Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:21:48.550413+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRAS were changed from Noonan syndrome to Cardiofaciocutaneous syndrome 2, MIM# 615278; Noonan syndrome 3, MIM# 609942",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:08:27.451393+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRAS as Red List (low evidence)",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:08:27.437728+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kras has been classified as Red List (Low Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:08:14.533463+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome 2, MIM# 615278, Noonan syndrome 3, MIM# 609942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:06:28.664831+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRAS as ready",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:06:28.645446+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hras has been classified as Red List (Low Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:06:24.542889+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HRAS were changed from Costello syndrome to Costello syndrome, MIM# 218040",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:06:11.987074+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HRAS as Red List (low evidence)",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:06:11.974036+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hras has been classified as Red List (Low Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:05:58.542292+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HRAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:04:46.643736+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HINT1 as ready",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:04:46.631444+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hint1 has been classified as Red List (Low Evidence).",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:04:41.327960+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HINT1 were changed from Axonal neuropathy with neuromyotonia to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:04:28.602084+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HINT1 as Red List (low evidence)",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:04:28.588889+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hint1 has been classified as Red List (Low Evidence).",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:04:15.924238+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HINT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200, Gamstorp-Wohlfart syndrome, MONDO:0007646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:00:52.775123+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM126A as ready",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:00:52.763001+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam126a has been classified as Red List (Low Evidence).",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:00:40.050618+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM126A were changed from Hypomyelination and congenital cataract to Hypomyelinating leukodystrophy 5 MONDO:0012514",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:00:24.324514+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM126A as Red List (low evidence)",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:00:24.310447+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam126a has been classified as Red List (Low Evidence).",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-11-23T21:00:12.034376+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelinating leukodystrophy 5 MONDO:0012514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:58:23.902189+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag haematological tag was added to gene: AMN.",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:58:04.303845+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag skeletal tag was added to gene: ALPL.",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:57:46.996311+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: ALDOB.",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:57:27.841367+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: ALDH7A1.",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:57:07.056233+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag GI tag was added to gene: AKR1D1.",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:56:40.714228+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag haematological tag was added to gene: AK2.",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:56:16.980791+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag endocrine tag was added to gene: AIRE.",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:56:00.607583+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: AHCY.",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:55:42.176589+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: AGXT.",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:55:22.427455+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: AGRN.",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:55:02.443597+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AGL.\nTag metabolic tag was added to gene: AGL.",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:54:39.698385+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deafness tag was added to gene: ADGRV1.",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:54:07.178780+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag haematological tag was added to gene: ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:53:31.290067+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag immunological tag was added to gene: ADA.",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:52:47.239494+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: ACAT1.",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:52:18.256278+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: ACADVL.",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:51:43.466788+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: ACADM.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:49:55.938582+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: ACAD9.",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:49:29.167548+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:49:01.007243+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: ABCD1.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-11-23T20:48:26.890794+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AAAS.\nTag endocrine tag was added to gene: AAAS.",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:47:49.283031+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: APRT.",
"entity_name": "APRT",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:46:21.013740+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP2B2 were set to ",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:46:04.480073+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ATP2B2.",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:44:59.587795+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: BMPR1A.",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:44:50.982714+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nPolyposis: onset in childhood although cancer onset tends to be in adulthood.\r\n\r\nFor review.; to: Well established gene-disease association.\r\n\r\nPolyposis: onset in childhood although cancer onset tends to be in adulthood.\r\n\r\nScreening typically starts in adolescence.",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:41:51.337496+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: CASQ2.",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:41:40.692346+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASQ2 as Amber List (moderate evidence)",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:41:40.677017+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:39:15.983354+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: DDB2.",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:39:02.416165+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nRange of age of onset, from childhood to adulthood. Most reported patients are adults, and this subtype which is generally milder.\r\n\r\nTreatment: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.\r\n\r\nFor review re age of onset.; to: Established gene-disease association.\r\n\r\nRange of age of onset, from childhood to adulthood. Most reported patients are adults, and this subtype which is generally milder.\r\n\r\nTreatment: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.\r\n\r\n",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:38:09.338189+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: EMD.",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:33:54.171036+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: UROD.",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:32:40.645728+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: UROD.",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:31:52.350763+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ERCC5.",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:31:41.960935+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants cause a range of DNA repair disorders.\r\n\r\nVariable severity and age of onset of manifestations.\r\n\r\nSome features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.\r\n\r\nFor discussion.; to: Bi-allelic variants cause a range of DNA repair disorders.\r\n\r\nVariable severity and age of onset of manifestations.\r\n\r\nSome features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.\r\n\r\n",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:30:48.050670+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSC1 as Red List (low evidence)",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2022-11-23T17:30:48.038356+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Red List (Low Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
}
]
}