{"count":220828,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1243","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1241","results":[{"created":"2021-08-12T14:24:45.152846+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8758","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ENAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11487571, 28334996, 14684688, 33864320; Phenotypes: Amelogenesis imperfecta, type IB, MIM# 104500, Amelogenesis imperfecta, type IC, MIM# 204650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ENAM","entity_type":"gene"},{"created":"2021-08-12T14:19:13.026637+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8758","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM20A as ready","entity_name":"FAM20A","entity_type":"gene"},{"created":"2021-08-12T14:19:13.016407+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8758","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20a has been classified as Green List (High Evidence).","entity_name":"FAM20A","entity_type":"gene"},{"created":"2021-08-12T14:19:01.019379+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8758","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAM20A were changed from  to Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690","entity_name":"FAM20A","entity_type":"gene"},{"created":"2021-08-12T14:18:39.646583+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8757","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAM20A were set to ","entity_name":"FAM20A","entity_type":"gene"},{"created":"2021-08-12T14:18:19.703789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8756","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FAM20A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAM20A","entity_type":"gene"},{"created":"2021-08-12T14:18:02.038210+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8755","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAM20A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23434854, 23697977, 23468644, 24756937, 21549343, 24259279, 24196488, 26502894, 25827751, 21990045; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAM20A","entity_type":"gene"},{"created":"2021-08-12T14:17:21.194878+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAM20A were set to 23434854; 23697977; 23468644; 24756937; 21549343; 24259279; 24196488; 26502894; 25827751; 21990045","entity_name":"FAM20A","entity_type":"gene"},{"created":"2021-08-12T14:16:37.779327+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM20A as ready","entity_name":"FAM20A","entity_type":"gene"},{"created":"2021-08-12T14:16:37.767110+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20a has been classified as Green List (High Evidence).","entity_name":"FAM20A","entity_type":"gene"},{"created":"2021-08-12T14:16:34.787444+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAM20A were changed from Amelogenesis Imperfecta, Type IG, 204690; Hypomieralised AI; Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 to Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690","entity_name":"FAM20A","entity_type":"gene"},{"created":"2021-08-12T14:15:35.180897+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.309","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: STK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22294732, 26117625, 22174160, 22952854; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations  MIM# 614868, CD4/CD8 lymphopaenia, cardiac malformations, reduced naïve T cells, increased TEM and TEMRA cells, poor T cell Proliferation, Reduced memory B cells, Reduced IgM, increased IgG, IgA, IgE, impaired antibody responses, intermittent neutropaenia, bacterial/ viral/ fungal infections, autoimmune cytopaenias, mucocutaneous candidiasis, cutaneous warts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STK4","entity_type":"gene"},{"created":"2021-08-12T14:14:34.934645+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ENAM as ready","entity_name":"ENAM","entity_type":"gene"},{"created":"2021-08-12T14:14:34.924145+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: enam has been classified as Green List (High Evidence).","entity_name":"ENAM","entity_type":"gene"},{"created":"2021-08-12T14:14:25.023920+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ENAM were changed from Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; autosomal recessive amelogenesis imperfecta; Amelogenesis Imperfecta, Dominant to Amelogenesis imperfecta, type IB, MIM# 104500; Amelogenesis imperfecta, type IC, MIM# 204650","entity_name":"ENAM","entity_type":"gene"},{"created":"2021-08-12T14:14:09.279627+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ENAM were set to 14684688; 11978766; 12407086; 20439930; 25769099; 22540999; 25143514; 22029166; 19329462; 28334996; 26502894; 17316551; 21597265; 16246937; 15723871; 11487571","entity_name":"ENAM","entity_type":"gene"},{"created":"2021-08-12T14:13:54.559886+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ENAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11487571, 28334996, 14684688, 33864320; Phenotypes: Amelogenesis imperfecta, type IB, MIM# 104500, Amelogenesis imperfecta, type IC, MIM# 204650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ENAM","entity_type":"gene"},{"created":"2021-08-12T12:28:43.429336+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.309","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33534181, 20657595; Phenotypes: Netherton syndrome MIM# 256500, Low switched and non-switched B cells, High IgE and IgA, Antibody variably decreased, Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive, food allergies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPINK5","entity_type":"gene"},{"created":"2021-08-12T12:23:12.412451+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.309","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301448, 31721003; Phenotypes: Hepatic veno-occlusive disease with immunodeficiency MIM#235550, Hepatic veno-occlusive disease, susceptibility to Pneumocystis jirovecii pneumonia, cytomegalovirus, thrombocytopaenia, hepatosplenomegaly, cerebrospinal leukodystrophy, memory T/B cell deficiency, low Ig levels, absent tissue plasma cells, absent lymph node germinal centers, hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SP110","entity_type":"gene"},{"created":"2021-08-12T11:31:08.962314+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLX3 as ready","entity_name":"DLX3","entity_type":"gene"},{"created":"2021-08-12T11:31:08.950147+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx3 has been classified as Green List (High Evidence).","entity_name":"DLX3","entity_type":"gene"},{"created":"2021-08-12T11:31:06.940242+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLX3 were changed from amelogenesis imperfecta with taurodontism; hypoplastic AI, taurodontism and kinky hair; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); Amelogenesis Imperfecta, Dominant; Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic; Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510 to Amelogenesis imperfecta, type IV, MIM# 104510; Trichodontoosseous syndrome, MIM# 190320","entity_name":"DLX3","entity_type":"gene"},{"created":"2021-08-12T11:30:53.099260+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLX3 were set to 15666299; 23949819; 26104267; 21252474; 20151948; 9467018","entity_name":"DLX3","entity_type":"gene"},{"created":"2021-08-12T11:30:31.194774+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DLX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467018, 15666299, 18203197; Phenotypes: Amelogenesis imperfecta, type IV, MIM# 104510, Trichodontoosseous syndrome, MIM# 190320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLX3","entity_type":"gene"},{"created":"2021-08-12T11:27:41.192057+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL17A1 as ready","entity_name":"COL17A1","entity_type":"gene"},{"created":"2021-08-12T11:27:41.182613+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col17a1 has been classified as Green List (High Evidence).","entity_name":"COL17A1","entity_type":"gene"},{"created":"2021-08-12T11:27:38.865159+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); hypoplastic amelogenesis imperfecta","entity_name":"COL17A1","entity_type":"gene"},{"created":"2021-08-12T11:27:18.424397+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL17A1 were changed from non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta","entity_name":"COL17A1","entity_type":"gene"},{"created":"2021-08-12T11:26:52.177231+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL17A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL17A1","entity_type":"gene"},{"created":"2021-08-12T11:26:43.214363+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: COL17A1: This type of EB has prominent dental involvement, including enamel pitting.","entity_name":"COL17A1","entity_type":"gene"},{"created":"2021-08-12T11:26:27.707443+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL17A1","entity_type":"gene"},{"created":"2021-08-12T10:33:49.776074+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.309","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301550, 17089404, 20036229; Phenotypes: Schimke immune-osseous dysplasia MIM# 242900, T cell deficiency, Short stature, spondyloepiphyseal dysplasia, renal dysfunction, lymphocytopaenia, nephropathy, bacterial/viral/fungal infections, may present as SCID, bone marrow failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2021-08-12T09:59:39.882237+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNNM4 were set to 19200527; 19200525","entity_name":"CNNM4","entity_type":"gene"},{"created":"2021-08-12T09:59:29.563626+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization.\r\n\r\nAt least 8 unrelated families reported.; to: Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization.\r\n\r\n>100 affected individuals reported.","entity_name":"CNNM4","entity_type":"gene"},{"created":"2021-08-12T09:59:16.203502+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CNNM4: Changed publications: 19200527, 19200525, 30705057","entity_name":"CNNM4","entity_type":"gene"},{"created":"2021-08-12T09:58:33.862758+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNNM4 as ready","entity_name":"CNNM4","entity_type":"gene"},{"created":"2021-08-12T09:58:33.853448+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnnm4 has been classified as Green List (High Evidence).","entity_name":"CNNM4","entity_type":"gene"},{"created":"2021-08-12T09:58:31.294693+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNNM4 were changed from cone-rod dystrophy and amelogenesis imperfecta; Jalili syndrome, 217080 (includes amelogenesis imperfecta) to Jalili syndrome, MIM#217080; cone-rod dystrophy and amelogenesis imperfecta","entity_name":"CNNM4","entity_type":"gene"},{"created":"2021-08-12T09:57:58.157237+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNNM4 were set to ","entity_name":"CNNM4","entity_type":"gene"},{"created":"2021-08-12T09:57:44.955119+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19200527, 19200525; Phenotypes: Jalili syndrome, MIM# 217080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CNNM4","entity_type":"gene"},{"created":"2021-08-12T09:56:08.114718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8755","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C4orf26 as ready","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-08-12T09:56:08.103920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8755","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c4orf26 has been classified as Green List (High Evidence).","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-08-12T09:56:01.529666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8755","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C4orf26 were changed from  to Amelogenesis imperfecta, type IIA4, MIM# 614832","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-08-12T09:55:41.939519+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8754","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C4orf26 were set to ","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-08-12T09:55:21.077634+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8753","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C4orf26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-08-12T09:55:04.136221+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8752","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C4orf26: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901946, 27558265; Phenotypes: Amelogenesis imperfecta, type IIA4, MIM# 614832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-08-12T09:54:21.674347+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C4orf26 as ready","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-08-12T09:54:21.662744+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c4orf26 has been classified as Green List (High Evidence).","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-08-12T09:54:19.642288+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C4orf26 were changed from Amelogenesis imperfecta, type IIA4, 614832; Amelogenesis Imperfecta, Type IIA4, 614832; hypomineralized amelogenesis imperfecta to Amelogenesis Imperfecta, Type IIA4, MIM#614832; hypomineralized amelogenesis imperfecta","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-08-12T09:53:57.889348+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C4orf26: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901946, 27558265; Phenotypes: Amelogenesis imperfecta, type IIA4, MIM# 614832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-08-12T09:51:44.487558+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8752","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMELX as ready","entity_name":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:51:44.477022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8752","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amelx has been classified as Green List (High Evidence).","entity_name":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:51:38.552887+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8752","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMELX were changed from Amelogenesis imperfecta, type 1E, MIM# 301200 to Amelogenesis imperfecta, type 1E, MIM# 301200","entity_name":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:51:35.925001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8752","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMELX were changed from  to Amelogenesis imperfecta, type 1E, MIM# 301200","entity_name":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:51:14.720412+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8751","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMELX were set to ","entity_name":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:50:55.867211+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8750","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AMELX 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":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:50:35.977051+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8749","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: AMELX.","entity_name":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:50:23.549946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8749","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMELX: Rating: GREEN; Mode of pathogenicity: None; Publications: 17189466, 22243263, 7599636, 23251683, 1483698 1916828, 9188994, 15111628, 11201048, 26502894, 7782077, 11922869, 28130977, 8406474, 11839357, 25117480, 19610109; Phenotypes: Amelogenesis imperfecta, type 1E, MIM# 301200; 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":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:48:44.581336+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8749","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMBN as ready","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:48:44.564385+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8749","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ambn has been classified as Green List (High Evidence).","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:48:36.795224+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8749","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMBN were changed from  to Amelogenesis imperfecta, type IF MIM#616270","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:48:17.655813+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMELX as ready","entity_name":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:48:17.640425+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amelx has been classified as Green List (High Evidence).","entity_name":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:48:15.594447+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMELX were changed from Amelogenesis imperfecta, type 1E, 301200; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI; iX-linked hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type 1E, 301200; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI","entity_name":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:47:37.357815+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: AMELX.","entity_name":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:47:28.768599+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMELX: Rating: GREEN; Mode of pathogenicity: None; Publications: 1916828, 15111628, 23251683; Phenotypes: Amelogenesis imperfecta, type 1E, MIM# 301200; 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":"AMELX","entity_type":"gene"},{"created":"2021-08-12T09:45:38.832530+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.309","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary MIM# 229050, Decreased Ig levels, megaloblastic anaemia, failure to thrive, Immunodeficiency, if untreated for prolonged periods results in intellectual disability, oral mucositis, hypoimmunoglobulinaemia, recurrent infections, seizures, motor impairment, leukopaenia, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2021-08-12T09:45:36.503036+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8748","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMBN were set to ","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:45:15.071841+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8747","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AMBN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:44:57.907290+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8746","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24858907, 26502894, 31402633, 30174330; Phenotypes: Amelogenesis imperfecta, type IF MIM#616270; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:44:00.675388+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMBN as ready","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:44:00.666561+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ambn has been classified as Green List (High Evidence).","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:43:57.880452+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMBN were changed from Amelogenesis imperfecta, type IF, 616270 to Amelogenesis imperfecta, type IF, MIM#616270","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:43:47.507991+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMBN were set to 24858907; 26502894","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:43:37.233185+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AMBN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:43:27.246781+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31402633, 30174330; Phenotypes: Amelogenesis imperfecta, type IF MIM#616270; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AMBN","entity_type":"gene"},{"created":"2021-08-12T09:39:37.721960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8746","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28513613, 27843125, 33552707; Phenotypes: Amelogenesis imperfecta, type IJ MIM#617297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACP4","entity_type":"gene"},{"created":"2021-08-12T09:38:50.173804+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0753 as ready","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-12T09:38:50.163605+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0753 has been classified as Green List (High Evidence).","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-12T09:38:46.245810+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACP4 as ready","entity_name":"ACP4","entity_type":"gene"},{"created":"2021-08-12T09:38:46.234817+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acp4 has been classified as Green List (High Evidence).","entity_name":"ACP4","entity_type":"gene"},{"created":"2021-08-12T09:38:44.295436+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ,  617297; hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IJ,  MIM#617297; hypoplastic amelogenesis imperfecta","entity_name":"ACP4","entity_type":"gene"},{"created":"2021-08-12T09:38:30.248980+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACP4 were set to 28513613; 27843125","entity_name":"ACP4","entity_type":"gene"},{"created":"2021-08-12T09:38:02.374100+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0753 were changed from ?Orofaciodigital syndrome XV 617127; Joubert syndrome; Short-rib skeletal dysplasia to ?Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM# 619476; Short-rib skeletal dysplasia","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-12T09:37:16.831473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8746","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV, MIM# 617127; Joubert syndrome to Orofaciodigital syndrome XV, MIM# 617127; Joubert syndrome 38, MIM# 619476","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-12T09:36:47.572142+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0753 were changed from ?Orofaciodigital syndrome XV\t617127; Joubert syndrome to ?Orofaciodigital syndrome XV\t617127; Joubert syndrome 38, MIM#\t619476","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-12T09:36:07.322312+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV 617127; Joubert syndrome to Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM#\t619476","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-12T09:34:06.307383+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4047","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM222 as ready","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-08-12T09:34:06.297316+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4047","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem222 has been classified as Green List (High Evidence).","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-08-12T09:33:58.124830+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4047","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM222 were changed from Motor delay; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Broad-based gait; Abnormality of nervous system morphology; Seizures; Microcephaly; Behavioral abnormality to Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470; Motor delay; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Broad-based gait; Abnormality of nervous system morphology; Seizures; Microcephaly; Behavioral abnormality","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-08-12T09:33:23.344497+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4046","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM222: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-08-12T09:31:16.530816+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1165","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM222 were changed from Motor delay; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Broad-based gait; Abnormality of nervous system morphology; Seizures; Microcephaly; Behavioral abnormality to Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470; Motor delay; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Broad-based gait; Abnormality of nervous system morphology; Seizures; Microcephaly; Behavioral abnormality","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-08-12T09:30:44.470584+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1164","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM222: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-08-12T09:29:57.051737+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM222 were changed from Intellectual disability; Epilepsy; Microcephaly to Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470; Intellectual disability; Epilepsy; Microcephaly","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-08-12T09:29:30.785923+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM222: Changed phenotypes: Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470, Intellectual disability, Epilepsy, Microcephaly","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-08-12T09:29:13.768547+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8745","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM222 were changed from Intellectual disability; Epilepsy; Microcephaly to Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470; Intellectual disability; Epilepsy; Microcephaly","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-08-12T09:28:52.531492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8744","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM222: Changed phenotypes: Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470, Intellectual disability, Epilepsy, Microcephaly","entity_name":"TMEM222","entity_type":"gene"},{"created":"2021-08-12T09:28:07.002034+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8744","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCF7L2 were changed from Developmental disorders to Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Myopia; Abnormality of skeletal system","entity_name":"TCF7L2","entity_type":"gene"},{"created":"2021-08-12T09:27:38.846961+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8743","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCF7L2 were set to 33057194","entity_name":"TCF7L2","entity_type":"gene"},{"created":"2021-08-12T09:27:21.778145+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8742","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TCF7L2 as Green List (high evidence)","entity_name":"TCF7L2","entity_type":"gene"}]}