{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=672","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=670","results":[{"created":"2022-12-11T14:52:16.052098+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.550","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZFP36L1 were set to ","entity_name":"ZFP36L1","entity_type":"gene"},{"created":"2022-12-11T14:51:54.473378+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.549","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZFP36L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZFP36L1","entity_type":"gene"},{"created":"2022-12-11T14:51:33.596037+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.548","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZFP36L1: Rating: RED; Mode of pathogenicity: None; Publications: 34611029, 22367205; Phenotypes: Oocyte maturation defect 13, MIM# 620154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZFP36L1","entity_type":"gene"},{"created":"2022-12-10T21:54:35.360881+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.172","user_name":"Liyan Song","item_type":"entity","text":"reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21190457, 15475955, 15098245; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM: #257300, Premature chromatid separation trait, MIM: #176430; Mode of inheritance: Other","entity_name":"BUB1B","entity_type":"gene"},{"created":"2022-12-10T13:48:55.734450+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD17B3 as ready","entity_name":"HSD17B3","entity_type":"gene"},{"created":"2022-12-10T13:48:55.722222+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b3 has been classified as Red List (Low Evidence).","entity_name":"HSD17B3","entity_type":"gene"},{"created":"2022-12-10T13:48:51.767251+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD17B3 were changed from Pseudohermaphroditism, male, with gynecomastia to Pseudohermaphroditism, male, with gynecomastia MIM#264300","entity_name":"HSD17B3","entity_type":"gene"},{"created":"2022-12-10T13:48:39.804476+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1271","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSD17B3 as Red List (low evidence)","entity_name":"HSD17B3","entity_type":"gene"},{"created":"2022-12-10T13:48:39.791811+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1271","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b3 has been classified as Red List (Low Evidence).","entity_name":"HSD17B3","entity_type":"gene"},{"created":"2022-12-10T13:48:26.894654+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1270","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD17B3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD17B3","entity_type":"gene"},{"created":"2022-12-10T13:46:40.388796+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD17B4 as ready","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-12-10T13:46:40.376461+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b4 has been classified as Red List (Low Evidence).","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-12-10T13:46:31.727820+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1270","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-12-10T13:46:18.576857+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1269","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSD17B4 as Red List (low evidence)","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-12-10T13:46:18.563531+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1269","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b4 has been classified as Red List (Low Evidence).","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-12-10T13:46:06.894637+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established association with peroxisomal disorders.\r\n\r\nCongenital onset, variable severity.\r\n\r\nNo specific treatment.; to: Well established association with peroxisomal disorders.\r\n\r\nCongenital onset, variable severity. SNHL is of childhood onset.\r\n\r\nNo specific treatment.","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-12-10T13:44:38.093101+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD17B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-12-10T13:43:02.970940+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD3B2 as ready","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-12-10T13:43:02.943246+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd3b2 has been classified as Green List (High Evidence).","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-12-10T13:42:55.158513+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HSD3B2.\nTag endocrine tag was added to gene: HSD3B2.","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-12-10T13:42:42.915914+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-12-10T13:40:12.844170+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD3B7 as ready","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:40:12.832287+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd3b7 has been classified as Green List (High Evidence).","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:40:10.037189+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD3B7 were changed from  to Bile acid synthesis defect, congenital, 1 MIM#607765","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:39:39.325235+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSD3B7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:39:08.817330+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HSD3B7.","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:39:00.953172+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:38:36.515937+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD3B7 as ready","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:38:36.503292+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd3b7 has been classified as Green List (High Evidence).","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:38:33.097805+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD3B7 were changed from 3 beta-hydroxysteroid dehydrogenase deficiency to Bile acid synthesis defect, congenital, 1 MIM#607765","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:38:17.900298+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1267","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HSD3B7.\nTag liver tag was added to gene: HSD3B7.","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:38:00.058784+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1267","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30373615; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-12-10T13:34:56.374909+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1267","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSPB8 as ready","entity_name":"HSPB8","entity_type":"gene"},{"created":"2022-12-10T13:34:56.362788+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1267","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspb8 has been classified as Red List (Low Evidence).","entity_name":"HSPB8","entity_type":"gene"},{"created":"2022-12-10T13:34:52.827134+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1267","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSPB8 were changed from Charcot-Marie-Tooth disease, axonal, type 2L to Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673","entity_name":"HSPB8","entity_type":"gene"},{"created":"2022-12-10T13:34:40.452475+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1266","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSPB8 as Red List (low evidence)","entity_name":"HSPB8","entity_type":"gene"},{"created":"2022-12-10T13:34:40.437614+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspb8 has been classified as Red List (Low Evidence).","entity_name":"HSPB8","entity_type":"gene"},{"created":"2022-12-10T13:34:28.948125+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1265","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSPB8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HSPB8","entity_type":"gene"},{"created":"2022-12-10T13:32:50.268073+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSPG2 as ready","entity_name":"HSPG2","entity_type":"gene"},{"created":"2022-12-10T13:32:50.254563+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspg2 has been classified as Red List (Low Evidence).","entity_name":"HSPG2","entity_type":"gene"},{"created":"2022-12-10T13:32:35.917488+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome to Schwartz-Jampel syndrome, type 1, MIM# 255800; MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; MONDO:0009140","entity_name":"HSPG2","entity_type":"gene"},{"created":"2022-12-10T13:32:24.004454+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1264","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSPG2 as Red List (low evidence)","entity_name":"HSPG2","entity_type":"gene"},{"created":"2022-12-10T13:32:23.991505+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1264","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspg2 has been classified as Red List (Low Evidence).","entity_name":"HSPG2","entity_type":"gene"},{"created":"2022-12-10T13:32:13.348123+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1263","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSPG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, MONDO:0009717, Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410, MONDO:0009140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSPG2","entity_type":"gene"},{"created":"2022-12-10T13:31:07.316800+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.548","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSPG2 were changed from Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1 to Schwartz-Jampel syndrome, type 1, MIM# 255800; MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; MONDO:0009140","entity_name":"HSPG2","entity_type":"gene"},{"created":"2022-12-10T13:30:04.459300+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1263","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HTRA1 as ready","entity_name":"HTRA1","entity_type":"gene"},{"created":"2022-12-10T13:30:04.429634+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1263","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: htra1 has been classified as Red List (Low Evidence).","entity_name":"HTRA1","entity_type":"gene"},{"created":"2022-12-10T13:29:44.905523+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1263","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HTRA1 were changed from CARASIL syndrome to CARASIL syndrome, MIM# 600142","entity_name":"HTRA1","entity_type":"gene"},{"created":"2022-12-10T13:29:32.798301+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1262","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HTRA1 as Red List (low evidence)","entity_name":"HTRA1","entity_type":"gene"},{"created":"2022-12-10T13:29:32.785559+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: htra1 has been classified as Red List (Low Evidence).","entity_name":"HTRA1","entity_type":"gene"},{"created":"2022-12-10T13:29:22.160556+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1261","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HTRA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CARASIL syndrome, MIM# 600142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HTRA1","entity_type":"gene"},{"created":"2022-12-09T11:18:47.439926+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.84","user_name":"Peter McNaughton","item_type":"entity","text":"gene: NLRC4 was added\ngene: NLRC4 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NLRC4 were set to PMID: 25217960\nPhenotypes for gene: NLRC4 were set to Infantile onset enterocolitis and autoinflammation\nMode of pathogenicity for gene: NLRC4 was set to Other\nReview for gene: NLRC4 was set to AMBER\nAdded comment: Infant presenting at 1 week of life with secretory diarrhea and fever with p.Val341Ala variant.  Cellular model demonstrating gain of function \nSources: Literature","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-12-09T10:56:35.244557+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1261","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC4A4 as ready","entity_name":"SLC4A4","entity_type":"gene"},{"created":"2022-12-09T10:56:35.232943+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1261","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc4a4 has been classified as Red List (Low Evidence).","entity_name":"SLC4A4","entity_type":"gene"},{"created":"2022-12-09T10:56:29.061463+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1261","user_name":"Seb Lunke","item_type":"entity","text":"Tag for review tag was added to gene: SLC4A4.","entity_name":"SLC4A4","entity_type":"gene"},{"created":"2022-12-09T10:56:17.237006+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1261","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC4A4 were changed from Renal tubular acidosis, proximal, with ocular abnormalities to Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278","entity_name":"SLC4A4","entity_type":"gene"},{"created":"2022-12-09T10:56:00.803961+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1260","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC4A4: Rating: RED; Mode of pathogenicity: None; Publications: 24978391; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC4A4","entity_type":"gene"},{"created":"2022-12-09T10:50:49.891010+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1260","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ILDR1 as ready","entity_name":"ILDR1","entity_type":"gene"},{"created":"2022-12-09T10:50:49.878417+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1260","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ildr1 has been classified as Green List (High Evidence).","entity_name":"ILDR1","entity_type":"gene"},{"created":"2022-12-09T10:50:46.512914+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1260","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ILDR1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 42, MIM# 609646","entity_name":"ILDR1","entity_type":"gene"},{"created":"2022-12-09T10:50:28.836334+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1259","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ILDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 42, MIM# 609646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ILDR1","entity_type":"gene"},{"created":"2022-12-09T10:47:14.148413+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.547","user_name":"Zornitza Stark","item_type":"entity","text":"Tag immunological was removed from gene: IL2RB.","entity_name":"IL2RB","entity_type":"gene"},{"created":"2022-12-09T10:46:48.285472+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: IL2RB.","entity_name":"IL2RB","entity_type":"gene"},{"created":"2022-12-09T10:46:37.765664+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Five families reported. \nSources: Expert list; to: Five families reported.\r\n\r\nAffected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative.\r\n\r\nSources: Expert list","entity_name":"IL2RB","entity_type":"gene"},{"created":"2022-12-09T10:46:13.520861+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.547","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: IL2RB.\nTag immunological tag was added to gene: IL2RB.","entity_name":"IL2RB","entity_type":"gene"},{"created":"2022-12-09T10:45:56.670265+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.547","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Five families reported. \nSources: Expert list; to: Five families reported.\r\n\r\nAffected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative.\r\n\r\nSources: Expert list","entity_name":"IL2RB","entity_type":"gene"},{"created":"2022-12-09T10:45:12.309026+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1259","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL2RB as ready","entity_name":"IL2RB","entity_type":"gene"},{"created":"2022-12-09T10:45:12.293932+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1259","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il2rb has been classified as Green List (High Evidence).","entity_name":"IL2RB","entity_type":"gene"},{"created":"2022-12-09T10:45:07.007102+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1259","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: IL2RB.\nTag immunological tag was added to gene: IL2RB.","entity_name":"IL2RB","entity_type":"gene"},{"created":"2022-12-09T10:44:48.260412+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1259","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL2RB","entity_type":"gene"},{"created":"2022-12-09T10:41:09.216762+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1259","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC5A6 as ready","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-12-09T10:41:09.197433+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1259","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc5a6 has been classified as Green List (High Evidence).","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-12-09T10:41:01.269636+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1259","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC5A6 were changed from  to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-12-09T10:40:27.650510+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1258","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC5A6 as Green List (high evidence)","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-12-09T10:40:27.637759+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1258","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc5a6 has been classified as Green List (High Evidence).","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-12-09T10:40:15.049629+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1257","user_name":"Seb Lunke","item_type":"entity","text":"gene: SLC5A6 was added\ngene: SLC5A6 was added to gNBS. Sources: Literature\nfor review tags were added to gene: SLC5A6.\nMode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal\nReview for gene: SLC5A6 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nChildhood onset, multisystemic metabolic disorder with highly variable manifestations\r\n\r\nTreatment: biotin, pantothenic acid, lipoate\r\n\r\nNon-genetic confirmatory test: no \nSources: Literature","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2022-12-09T10:36:26.842085+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1256","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC5A7 as ready","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2022-12-09T10:36:26.828778+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1256","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc5a7 has been classified as Green List (High Evidence).","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2022-12-09T10:36:19.467062+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1256","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC5A7 as Green List (high evidence)","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2022-12-09T10:36:19.455006+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1256","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc5a7 has been classified as Green List (High Evidence).","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2022-12-09T10:36:07.182678+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1255","user_name":"Seb Lunke","item_type":"entity","text":"gene: SLC5A7 was added\ngene: SLC5A7 was added to gNBS. Sources: Literature\nMode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A7 were set to 20301347\nPhenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143\nReview for gene: SLC5A7 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nChildhood onset, severe neuromuscular disorder \r\n(recessive disease)\r\n\r\nTreatment:  Salbutamol, Acetylcholine-esterase inhibitors\r\n\r\nNon-genetic confirmatory test:  repetitive nerve stimulation test \nSources: Literature","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2022-12-09T10:28:24.962427+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1254","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC9A3 as ready","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2022-12-09T10:28:24.949173+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1254","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc9a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2022-12-09T10:28:20.267624+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1254","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC9A3 as Amber List (moderate evidence)","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2022-12-09T10:28:20.254692+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1254","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc9a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2022-12-09T10:28:08.171628+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1253","user_name":"Seb Lunke","item_type":"entity","text":"gene: SLC9A3 was added\ngene: SLC9A3 was added to gNBS. Sources: Literature\nfor review tags were added to gene: SLC9A3.\nMode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC9A3 were set to Diarrhoea 8, secretory sodium, congenital, MiM# 616868\nReview for gene: SLC9A3 was set to AMBER\nAdded comment: Established gene-disease association.\r\n\r\nChildhood onset, congenital diarrhea. ?severity\r\n\r\nTreatment: sodium, bicarbonate\r\n\r\nNon-genetic confirmatory test: fecal sodium concentration \nSources: Literature","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2022-12-09T10:24:32.279977+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1252","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: ADA2 as Green List (high evidence)","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-12-09T10:24:32.267826+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1252","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ada2 has been classified as Green List (High Evidence).","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-12-09T10:24:19.062671+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1251","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: ADA2 as ready","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-12-09T10:24:19.048771+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1251","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ada2 has been classified as Red List (Low Evidence).","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-12-09T10:24:02.007041+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1251","user_name":"Seb Lunke","item_type":"entity","text":"gene: ADA2 was added\ngene: ADA2 was added to gNBS. Sources: Literature\nfor review tags were added to gene: ADA2.\nMode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688\nReview for gene: ADA2 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nChildhood onset but variable, multisystem disorder with variable severity. Onset common <5 years \r\n\r\nTreatment: TNF inhibitor, hematopoietic stem cell transplantation, IL6 receptor antibody (tocilizumab)\r\n\r\nNon-genetic confirmatory test: plasma ADA2 enzyme activity \nSources: Literature","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-12-09T09:28:35.238501+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA2D1 were changed from Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy 110, MIM# 620149","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2022-12-09T09:27:58.426128+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5122","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CACNA2D1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 110, MIM# 620149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2022-12-09T09:27:24.358873+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1817","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA2D1 were changed from Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy 110, MIM# 620149","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2022-12-09T09:26:22.448388+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.547","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA2D1 were changed from Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy 110, MIM#\t620149","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2022-12-09T09:24:31.764443+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FZR1 as ready","entity_name":"FZR1","entity_type":"gene"},{"created":"2022-12-09T09:24:31.749201+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzr1 has been classified as Green List (High Evidence).","entity_name":"FZR1","entity_type":"gene"},{"created":"2022-12-09T09:24:23.308013+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5122","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FZR1 as Green List (high evidence)","entity_name":"FZR1","entity_type":"gene"},{"created":"2022-12-09T09:24:23.295344+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzr1 has been classified as Green List (High Evidence).","entity_name":"FZR1","entity_type":"gene"},{"created":"2022-12-09T09:23:46.936228+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5121","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FZR1 was added\ngene: FZR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FZR1 were set to 34788397\nPhenotypes for gene: FZR1 were set to Developmental and epileptic encephalopathy 109, MIM# 620145\nReview for gene: FZR1 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo missense variants in this gene. Affected individuals had developmental delay before and concurrent with the onset of seizures. Features included impaired intellectual development with poor speech, ataxic gait, coordination problems, and behavioral abnormalities. Drosophila model supports gene-disease association. \nSources: Expert Review","entity_name":"FZR1","entity_type":"gene"}]}