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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=699",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=697",
"results": [
{
"created": "2022-11-07T18:04:48.170014+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col5a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:04:33.092094+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 MIM#130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:03:05.948654+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL7A1 as ready",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:03:05.939192+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col7a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:02:56.309271+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000 EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:02:44.924342+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL7A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:02:32.189849+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL7A1 as Red List (low evidence)",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:02:32.180583+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col7a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:02:14.711033+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL7A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000 EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:00:09.985891+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TWIST1 as ready",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:00:09.975676+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twist1 has been classified as Red List (Low Evidence).",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2022-11-07T18:00:02.577451+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TWIST1 were changed from Saethre-Chotzen syndrome to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:59:50.493953+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TWIST1 were set to ",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:58:36.518477+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TWIST1 as Red List (low evidence)",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:58:36.509771+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twist1 has been classified as Red List (Low Evidence).",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:58:12.993982+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TWIST1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746, Robinow-Sorauf syndrome, MIM# 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:57:07.158511+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TWNK as ready",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:57:07.144162+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twnk has been classified as Red List (Low Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:57:02.632122+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TWNK were changed from Spinocerebellar ataxia infantile-onset to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:56:33.386264+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TWNK were set to ",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:56:06.693114+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TWNK as Red List (low evidence)",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:56:06.683057+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twnk has been classified as Red List (Low Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:52:39.250287+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYMP as ready",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:52:39.242079+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tymp has been classified as Red List (Low Evidence).",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:52:34.305342+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:52:10.287582+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYMP were set to ",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:51:40.808588+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TYMP as Red List (low evidence)",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:51:40.797052+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tymp has been classified as Red List (Low Evidence).",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:50:41.575669+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYR as ready",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:50:41.566901+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyr has been classified as Red List (Low Evidence).",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:50:38.338655+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYR were changed from Albinism, oculocutaneous 1 to Oculocutaneous albinism type 1 MIM## 203100, # 606952",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:50:27.065054+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYR were set to ",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:50:12.345013+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TYR as Red List (low evidence)",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:50:12.337119+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyr has been classified as Red List (Low Evidence).",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:50:02.136181+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TYR.",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:49:52.545358+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculocutaneous albinism type 1 MIM## 203100, # 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:48:55.195546+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2T as ready",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:48:55.184010+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Green List (High Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:48:50.577812+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBE2T were set to ",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:48:25.847180+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: UBE2T.",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:48:14.441048+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group T MIM#616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:46:47.071834+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL5A1 as ready",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:46:47.063303+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col5a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:46:43.616816+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, type I to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:46:31.178244+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL5A1 as Red List (low evidence)",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:46:31.169909+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col5a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:46:19.210020+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 1, MIM# 130000, Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:35:59.467941+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A3 as ready",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:35:59.454654+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Red List (Low Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:35:55.026318+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A3 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy 1 MIM#158810; Dystonia 27 MIM#616411; Ullrich congenital muscular dystrophy 1 MIM#254090",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:35:43.030913+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:34:36.758047+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL6A3 as Red List (low evidence)",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:34:36.748782+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Red List (Low Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:34:24.654610+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1 MIM#158810, Dystonia 27 MIM#616411, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:32:49.791283+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A2 as ready",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:32:49.766477+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:32:42.288875+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A2 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:32:29.737968+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:32:21.335372+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL6A2 as Red List (low evidence)",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:32:21.320892+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:32:10.046205+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1 MIM#158810, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:31:16.817919+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A1 as ready",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:31:16.788222+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:31:13.535875+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A1 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:30:40.941779+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:30:30.353870+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL6A1 as Red List (low evidence)",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:30:30.319397+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:30:19.681808+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy MIM#158810, Ullrich congenital muscular dystrophy MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:28:46.681355+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A3 as ready",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:28:46.673263+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a3 has been classified as Green List (High Evidence).",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:27:32.400719+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A3 were changed from Stickler syndrome to Stickler syndrome, type VI, MIM# 620022",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:27:19.740010+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: COL9A3.",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:27:09.755749+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type VI, MIM# 620022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:23:19.207716+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTPA as ready",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:23:19.198384+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttpa has been classified as Green List (High Evidence).",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:23:15.384551+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTPA were changed from Ataxia with isolated vitamin E deficiency to Ataxia with isolated vitamin E deficiency MIM#277460",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:23:04.188130+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTPA were set to ",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:22:40.637660+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TTPA.",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:22:12.574844+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTR as ready",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:22:12.565787+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttr has been classified as Red List (Low Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:22:08.274551+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTR were changed from Amyloidosis, hereditary, transthyretin-related to Amyloidosis, hereditary, transthyretin-related MIM#105210",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:21:56.225840+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTR were set to ",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:21:32.392223+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTR as Red List (low evidence)",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:21:32.381687+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttr has been classified as Red List (Low Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:20:59.831683+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDX1 as ready",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:20:59.823549+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdx1 has been classified as Green List (High Evidence).",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:20:56.764425+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDX1 were changed from Pancreatic agenesis, MIM# # 260370 to Pancreatic agenesis, MIM# # 260370",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:20:20.736016+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE4D as ready",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:20:20.727927+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde4d has been classified as Red List (Low Evidence).",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:20:16.430591+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE4D were changed from Acrodysostosis 2, with or without hormone resistance to Acrodysostosis 2, with or without hormone resistance, MIM#614613",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:20:00.345963+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE4D as Red List (low evidence)",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:20:00.335252+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde4d has been classified as Red List (Low Evidence).",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:19:29.493586+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCNT as ready",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:19:29.471803+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Red List (Low Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:19:25.956928+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism type 2 to Microcephalic osteodysplastic primordial dwarfism, type II, 210720",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:19:11.891383+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCNT as Red List (low evidence)",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:19:11.881070+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Red List (Low Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:18:40.209227+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH15 as ready",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:18:40.200470+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh15 has been classified as Green List (High Evidence).",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2022-11-07T17:18:36.591733+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH15 were changed from Usher syndrome to Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533",
"entity_name": "PCDH15",
"entity_type": "gene"
}
]
}