{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=849","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}