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{
"count": 220257,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1412",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1410",
"results": [
{
"created": "2021-02-13T11:07:01.694985+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:06:32.364451+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:03:17.670643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FERMT1 as ready",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:03:17.659692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fermt1 has been classified as Green List (High Evidence).",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:03:09.360489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FERMT1 were changed from to Kindler syndrome, MIM# 173650",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:02:46.257001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FERMT1 were set to ",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:02:28.254899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FERMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:02:09.047580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12789646; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:01:16.444435+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FERMT1 as ready",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:01:16.433147+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fermt1 has been classified as Green List (High Evidence).",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:01:13.748632+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FERMT1 were changed from to Kindler syndrome, MIM# 173650",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:00:46.638341+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FERMT1 were set to ",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T11:00:20.344078+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FERMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-13T10:59:48.530702+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12789646; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:59:40.772505+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXPH5 as ready",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:59:40.764370+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exph5 has been classified as Green List (High Evidence).",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:59:35.558116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXPH5 as ready",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:59:35.546905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exph5 has been classified as Green List (High Evidence).",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:59:21.848843+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXPH5 were changed from to Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:58:59.819136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXPH5 were set to ",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:58:39.402000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXPH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:58:28.092624+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXPH5 were changed from to Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:58:15.029941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176819, 32176379, 27730671, 27384765; Phenotypes: Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:58:04.806903+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXPH5 were set to ",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:57:27.567515+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXPH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:56:54.422062+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176819, 32176379, 27730671, 27384765; Phenotypes: Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXPH5",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:53:51.197629+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DST as ready",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:53:51.187264+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dst has been classified as Green List (High Evidence).",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:53:48.408906+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DST were changed from to Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:53:23.332735+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DST were set to ",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:52:53.577293+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:52:22.719237+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 20164846, 22113475, 33471381; Phenotypes: Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:15:26.100454+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEC as ready",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:15:26.089446+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plec has been classified as Green List (High Evidence).",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:15:22.783330+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEC were changed from to Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138; Epidermolysis bullosa simplex, Ogna type, MIM# 131950",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:14:39.074920+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLEC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:14:08.346810+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670, Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138, Epidermolysis bullosa simplex, Ogna type, MIM# 131950; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:12:49.878755+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSP as ready",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:12:49.869984+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsp has been classified as Green List (High Evidence).",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:12:40.947476+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSP were changed from to Epidermolysis bullosa, lethal acantholytic, MIM# 609638",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:12:12.838767+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSP were set to ",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:11:49.329278+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:11:18.052540+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16175511, 20302578, 20302578, 28442525, 20613772, 20302578; Phenotypes: Epidermolysis bullosa, lethal acantholytic, MIM# 609638; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:04:21.131212+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL7A1 as ready",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:04:21.120150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col7a1 has been classified as Green List (High Evidence).",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:04:13.474876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL7A1 were changed from 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": "2021-02-12T21:03:54.323092+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL7A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:03:31.709228+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL7A1 as ready",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:03:31.698183+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col7a1 has been classified as Green List (High Evidence).",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:03:28.054770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL7A1: Rating: GREEN; 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": "2021-02-12T21:03:08.029265+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL7A1 were changed from 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": "2021-02-12T21:02:36.388505+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL7A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2021-02-12T21:02:07.261957+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL7A1: Rating: GREEN; 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": "2021-02-12T20:58:26.352820+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGSF1 as ready",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:58:26.343975+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igsf1 has been classified as Green List (High Evidence).",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:58:23.498208+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement (300888) to Hypothyroidism, central, and testicular enlargement, MIM# 300888",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:58:13.288922+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGSF1 were set to 23143598; 23966245; 26302767",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:57:56.327489+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; 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": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:56:53.064989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGSF1 as ready",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:56:53.057236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igsf1 has been classified as Green List (High Evidence).",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:56:45.517274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGSF1 were changed from to Hypothyroidism, central, and testicular enlargement, MIM# 300888",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:56:32.125743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGSF1 were set to ",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:56:18.685299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGSF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:52:38.952703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; 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": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:51:22.316275+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGSF1 as ready",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:51:22.306860+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igsf1 has been classified as Green List (High Evidence).",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:51:20.348722+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement, 300888; macroorchidism; central hypothyroidism; GH deficiency; hypoprolactinaemia to Hypothyroidism, central, and testicular enlargement, MIM# 300888",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:51:02.712841+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGSF1 were set to 24108313 (reports that a subset of female carriers show central hypothyroidism).; 26840047; 27762734; 23143598",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:50:38.344352+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23143598, 27310681, 30086211; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:48:58.591145+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HESX1 as ready",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:48:58.580717+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hesx1 has been classified as Green List (High Evidence).",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:48:56.506473+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HESX1 were changed from GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism to Pituitary hormone deficiency, combined, 5, MIM# 182230",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:48:29.503679+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:44:31.701627+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDB2 as ready",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:44:31.690163+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddb2 has been classified as Green List (High Evidence).",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:44:26.222303+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDB2 were changed from to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:44:04.469508+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDB2 were set to ",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:43:35.567905+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:43:00.344444+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33544716, 32457468, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: None",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:40:09.452021+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRIP1 as ready",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:40:09.434869+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Green List (High Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:39:58.109485+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRIP1 were changed from to Fanconi anemia, complementation group J, MIM# 609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:39:02.605128+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:38:32.241067+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:37:49.770883+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA2 as ready",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:37:49.760526+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:37:47.248487+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from to Fanconi anemia, complementation group D1, MIM# 605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:37:20.714880+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:36:49.934276+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:36:09.126133+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:36:09.108826+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:36:06.675907+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:35:38.289681+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:35:08.532244+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:34:35.648567+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATM as ready",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:34:35.633654+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atm has been classified as Green List (High Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:34:32.387658+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATM were changed from to Ataxia-telangiectasia, MIM# 208900",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:34:04.118741+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-02-12T20:33:27.138818+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-02-12T15:46:01.637704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSTL5 as ready",
"entity_name": "FSTL5",
"entity_type": "gene"
}
]
}