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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=849",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=847",
"results": [
{
"created": "2022-05-09T21:03:40.893600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6 - MIM#607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-05-09T21:02:05.487154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5 - MIM#274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2022-05-09T17:56:04.266858+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697692, 10053026, 10942419, 11462235, 12417528, 8225316, 26143542; Phenotypes: Retinitis pigmentosa 2 MIM#312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2022-05-09T17:56:00.303450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697692, 10053026, 10942419, 11462235, 12417528, 8225316, 26143542; Phenotypes: Retinitis pigmentosa 2 MIM#312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2022-05-09T16:58:12.847604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RP9: Rating: RED; Mode of pathogenicity: None; Publications: 16799052, 16671097; Phenotypes: ?Retinitis pigmentosa 9 MIM#180104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RP9",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:59:49.165350+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LZTS1 as ready",
"entity_name": "LZTS1",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:59:49.154007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lzts1 has been classified as Red List (Low Evidence).",
"entity_name": "LZTS1",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:59:29.977462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LZTS1 were changed from to Esophageal squamous cell carcinoma, somatic, MIM# 133239",
"entity_name": "LZTS1",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:59:05.132015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13990",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LZTS1 as Red List (low evidence)",
"entity_name": "LZTS1",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:59:05.120399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13990",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lzts1 has been classified as Red List (Low Evidence).",
"entity_name": "LZTS1",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:58:44.008304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13989",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LZTS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Esophageal squamous cell carcinoma, somatic, MIM# 133239; Mode of inheritance: Unknown",
"entity_name": "LZTS1",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:54:05.422934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13989",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LYZ as ready",
"entity_name": "LYZ",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:54:05.410184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13989",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lyz has been classified as Green List (High Evidence).",
"entity_name": "LYZ",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:53:56.468811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13989",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LYZ were changed from to Amyloidosis, renal, MIM# 105200",
"entity_name": "LYZ",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:53:10.819094+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13988",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LYZ were set to ",
"entity_name": "LYZ",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:52:47.938384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13987",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LYZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LYZ",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:46:29.539368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13986",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LYST as ready",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:46:29.525515+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13986",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lyst has been classified as Green List (High Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:46:21.971488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13986",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM# 214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:45:23.335712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13985",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:23:42.523449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13984",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LYRM7 as ready",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:23:42.513745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13984",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lyrm7 has been classified as Green List (High Evidence).",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:23:36.865886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13984",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LYRM7 were changed from to Mitochondrial complex III deficiency, nuclear type 8, MIM#615838",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:23:21.247235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13983",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:20:51.993292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13982",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LYN as ready",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:20:51.986873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13982",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: No human disease association published. Mouse models suggest role in auto inflammatory pathways.",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:20:51.933014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13982",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lyn has been classified as Red List (Low Evidence).",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:20:26.148971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13982",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LYN as Red List (low evidence)",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:20:26.137772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13982",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lyn has been classified as Red List (Low Evidence).",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2022-05-09T15:13:34.315534+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326941, 9501220, 15557452; Phenotypes: Retinitis pigmentosa 20 MIM#613794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:58:27.081771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13981",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LTC4S as ready",
"entity_name": "LTC4S",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:58:27.065585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13981",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ltc4s has been classified as Red List (Low Evidence).",
"entity_name": "LTC4S",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:58:20.610255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13981",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LTC4S were changed from to Leukotriene C4 synthase deficiency, MIM# 614037",
"entity_name": "LTC4S",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:57:51.557133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13980",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LTC4S was changed from Unknown to Unknown",
"entity_name": "LTC4S",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:57:24.047828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13979",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LTC4S as Red List (low evidence)",
"entity_name": "LTC4S",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:57:24.035724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13979",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ltc4s has been classified as Red List (Low Evidence).",
"entity_name": "LTC4S",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:57:01.186866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13978",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LTC4S: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukotriene C4 synthase deficiency, MIM# 614037; Mode of inheritance: Other",
"entity_name": "LTC4S",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:47:08.994439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13978",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LTA as ready",
"entity_name": "LTA",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:47:08.988781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13978",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Not associated with Mendelian disease",
"entity_name": "LTA",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:47:08.959616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13978",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lta has been classified as Red List (Low Evidence).",
"entity_name": "LTA",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:46:48.812324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13978",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LTA were changed from to Myocardial infarction, susceptibility to, MIM# 608446",
"entity_name": "LTA",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:46:01.645532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13977",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LTA was changed from Other to Other",
"entity_name": "LTA",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:45:49.890963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13977",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LTA was changed from Unknown to Other",
"entity_name": "LTA",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:45:39.175310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13976",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LTA as Red List (low evidence)",
"entity_name": "LTA",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:45:39.164386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13976",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lta has been classified as Red List (Low Evidence).",
"entity_name": "LTA",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:45:17.165389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13975",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LTA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myocardial infarction, susceptibility to, MIM# 608446; Mode of inheritance: Other",
"entity_name": "LTA",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:41:21.836374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13975",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LRP6 as ready",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:41:21.821196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13975",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lrp6 has been classified as Green List (High Evidence).",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:41:05.798011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13975",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LRP6 were changed from to Tooth agenesis, selective, 7, MIM# 616724",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:40:26.816106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13974",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:36:11.363766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13973",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LRP5 as ready",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:36:11.348241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13973",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lrp5 has been classified as Green List (High Evidence).",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:36:00.903877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13973",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LRP5 were changed from to Exudative vitreoretinopathy 4, MIM# 601813; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:31:45.501834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13972",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:28:52.848048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13971",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LRP2 as ready",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:28:52.838729+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13971",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Green List (High Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:28:43.363118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13971",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LRP2 were changed from to Donnai-Barrow syndrome, MIM# 222448",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:24:30.656814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13970",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LRIG2 as ready",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:24:30.645448+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13970",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lrig2 has been classified as Green List (High Evidence).",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:24:23.302298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13970",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LRIG2 were changed from to Urofacial syndrome 2, MIM# 615112",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:24:08.978170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13969",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LRIG2 were set to 23313374; 27855655; 30885509",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:24:07.529652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13969",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LRIG2 were set to ",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:23:47.547827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13968",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRIG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:23:20.504277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13967",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313374, 27855655, 30885509; Phenotypes: Urofacial syndrome 2, MIM# 615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:14:59.653314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13967",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FGFR3 as ready",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:14:59.638811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13967",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Green List (High Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:13:53.713041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13967",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR3 were changed from to achondroplasia MONDO:0007037; Thanatophoric dysplasia type 1 MONDO:0008546; Thanatophoric dysplasia type 2 MONDO:0008547; hypochondroplasia MONDO:0007793; Muenke syndrome MONDO:0011274; FGFR3-related chondrodysplasia MONDO:0019685; severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658; camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504; Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:12:24.248194+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13966",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGFR3 were set to ",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:11:20.612761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13965",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:09:53.602607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13964",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26740388, 20301331, 20301540, 20301650, 20301628, 24864036, 17033969; Phenotypes: achondroplasia MONDO:0007037, Thanatophoric dysplasia type 1 MONDO:0008546, Thanatophoric dysplasia type 2 MONDO:0008547, hypochondroplasia MONDO:0007793, Muenke syndrome MONDO:0011274, FGFR3-related chondrodysplasia MONDO:0019685, severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658, camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504, Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:01:15.710609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13964",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DNAJB6 as ready",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:01:15.695640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13964",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: dnajb6 has been classified as Green List (High Evidence).",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:00:57.629076+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13964",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJB6 were changed from to Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:00:41.591778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13963",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: DNAJB6 were set to ",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2022-05-09T14:00:37.493924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13963",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2022-05-09T13:59:34.462712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13962",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26847086, 26338452, 24170373; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2022-05-09T13:56:55.565182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13962",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH1 were changed from Spermatogenic failure 18 MIM#617576 to primary ciliary dyskinesia,37 MIM#617577; Spermatogenic failure 18 MIM#617576",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2022-05-09T13:52:46.076449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13961",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DNAH1 as ready",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2022-05-09T13:52:46.063948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13961",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: dnah1 has been classified as Green List (High Evidence).",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2022-05-09T13:52:39.913518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13961",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH1 were changed from to Spermatogenic failure 18 MIM#617576",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2022-05-09T13:51:06.346644+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13960",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: DNAH1 were set to ",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2022-05-09T13:50:28.599268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13959",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2022-05-09T13:50:10.018088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13958",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DNAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31507630, 31765523, 25927852, 24360805, 33577779; Phenotypes: primary ciliary dyskinesia,37 MIM#617577, Spermatogenic failure 18 MIM#617576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2022-05-09T13:47:22.094166+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.18",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DNAH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33577779; Phenotypes: Ciliary dyskinesia, primary, 37 MIM#617577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:24:08.370352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13958",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DNA2 as ready",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:24:08.357747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13958",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: dna2 has been classified as Green List (High Evidence).",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:23:55.586436+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13958",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DNA2 were changed from to Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:23:46.546350+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13957",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: DNA2 were set to ",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:23:42.934680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13957",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNA2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:23:25.844107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13956",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 31045292, 23352259, 25635128, 28554558; Phenotypes: Seckel syndrome 8, MIM#615807, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:08:51.875571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13956",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DMD.",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:06:47.702246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13956",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DMP1 as ready",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:06:47.690979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13956",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: dmp1 has been classified as Green List (High Evidence).",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:06:36.780276+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13956",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: DMP1 were set to ",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:06:28.380318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13956",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DMP1 were changed from to Hypophosphatemic rickets MIM#241520",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:06:23.573123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13956",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: DMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:06:03.568534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13955",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32920683, 17033625, 17033621; Phenotypes: Hypophosphatemic rickets MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-05-09T12:00:01.553361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13955",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AQP3 were changed from to [Blood group GIL] MIM#607457",
"entity_name": "AQP3",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:57:50.403899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13954",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AQP3 as ready",
"entity_name": "AQP3",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:57:50.394046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13954",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: aqp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AQP3",
"entity_type": "gene"
}
]
}