{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=665","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=663","results":[{"created":"2022-12-14T18:33:14.792442+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1450","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFXAP as ready","entity_name":"RFXAP","entity_type":"gene"},{"created":"2022-12-14T18:33:14.774038+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1450","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfxap has been classified as Green List (High Evidence).","entity_name":"RFXAP","entity_type":"gene"},{"created":"2022-12-14T18:33:08.914474+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1450","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RFXAP as Green List (high evidence)","entity_name":"RFXAP","entity_type":"gene"},{"created":"2022-12-14T18:33:08.901794+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1450","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfxap has been classified as Green List (High Evidence).","entity_name":"RFXAP","entity_type":"gene"},{"created":"2022-12-14T18:32:58.858224+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1449","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: RFXAP.\nTag immunological tag was added to gene: RFXAP.","entity_name":"RFXAP","entity_type":"gene"},{"created":"2022-12-14T18:32:41.147802+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1449","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RFXAP was added\ngene: RFXAP was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D MIM# 209920\nReview for gene: RFXAP was set to GREEN\nAdded comment: 9 unique RFXAP variants in 12 unrelated individuals have been reported; one mouse model\r\n\r\nThe most frequent variant is a deletion c. delG484fsX525 which has been identified in 4 individuals of different origins (North African, Turkish and East Asian).\r\n\r\nTypically presents in infancy with recurrent bacterial infections, severe diarrhoea and failure to thrive.\r\n\r\nTreatment: BMT. \nSources: Expert Review","entity_name":"RFXAP","entity_type":"gene"},{"created":"2022-12-14T18:30:11.590745+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1448","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFX5 as ready","entity_name":"RFX5","entity_type":"gene"},{"created":"2022-12-14T18:30:11.576731+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1448","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfx5 has been classified as Green List (High Evidence).","entity_name":"RFX5","entity_type":"gene"},{"created":"2022-12-14T18:30:06.086213+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1448","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RFX5 as Green List (high evidence)","entity_name":"RFX5","entity_type":"gene"},{"created":"2022-12-14T18:30:06.071639+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1448","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfx5 has been classified as Green List (High Evidence).","entity_name":"RFX5","entity_type":"gene"},{"created":"2022-12-14T18:29:56.393328+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1447","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: RFX5.\nTag immunological tag was added to gene: RFX5.","entity_name":"RFX5","entity_type":"gene"},{"created":"2022-12-14T18:29:44.529986+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1447","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RFX5 was added\ngene: RFX5 was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: RFX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFX5 were set to Bare lymphocyte syndrome, type II, complementation group C MIM# 209920; Bare lymphocyte syndrome, type II, complementation group E MIM# 209920\nReview for gene: RFX5 was set to GREEN\nAdded comment: Bare lymphocyte syndrome, type II, complementation group C \r\n\r\n9 individuals from 8 unrelated families; multiple mouse models \r\nHomozygous and Compound heterozygous (Nonsense, missense, splice site, single bp del) variants were reported resulting in truncated protein and loss of function.\r\nAll individuals presented with recurrent lower respiratory tract infection early in life, low CD4+ cells and/or failure to thrive, chronic diarrhoea, hepatosplenomegaly and low Ig levels. \r\n----------\r\nBare lymphocyte syndrome, type II, complementation group E\r\n\r\n2 siblings (twins) reported with RPX5 variants and new BLS group E phenotype; multiple functional studies\r\nIdentified homozygous missense variant (R149Q) which resulted in altered DNA-binding domain and loss of function.\r\nThese histo-identical twin brothers had normal numbers of CD4 + cells and are able to mount both cellular and humoral immune responses. They displayed absence of MHC class II surface expression on B cells and mononuclear cells.\r\n\r\nPresentation is typically in infancy.\r\n\r\nTreatment: BMT. \nSources: Expert Review","entity_name":"RFX5","entity_type":"gene"},{"created":"2022-12-14T18:26:33.080478+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFXANK as ready","entity_name":"RFXANK","entity_type":"gene"},{"created":"2022-12-14T18:26:33.066698+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfxank has been classified as Green List (High Evidence).","entity_name":"RFXANK","entity_type":"gene"},{"created":"2022-12-14T18:26:27.772766+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: RFXANK.\nTag immunological tag was added to gene: RFXANK.","entity_name":"RFXANK","entity_type":"gene"},{"created":"2022-12-14T18:26:12.314010+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MHC class II deficiency, complementation group B MIM# 209920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RFXANK","entity_type":"gene"},{"created":"2022-12-14T18:23:00.383315+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RMRP as ready","entity_name":"RMRP","entity_type":"gene"},{"created":"2022-12-14T18:23:00.370272+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmrp has been classified as Green List (High Evidence).","entity_name":"RMRP","entity_type":"gene"},{"created":"2022-12-14T18:22:56.819427+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1446","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RMRP were changed from Cartilage-hair hypoplasia to Cartilage-hair hypoplasia MIM#250250","entity_name":"RMRP","entity_type":"gene"},{"created":"2022-12-14T18:22:44.036041+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1445","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: RMRP.\nTag treatable tag was added to gene: RMRP.\nTag immunological tag was added to gene: RMRP.","entity_name":"RMRP","entity_type":"gene"},{"created":"2022-12-14T18:22:28.354120+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1445","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cartilage-hair hypoplasia MIM#250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMRP","entity_type":"gene"},{"created":"2022-12-14T18:20:36.391981+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1445","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNASEH2A as ready","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2022-12-14T18:20:36.377064+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1445","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2a has been classified as Amber List (Moderate Evidence).","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2022-12-14T18:20:33.214653+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1445","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNASEH2A were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 4, MIM# 610333","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2022-12-14T18:20:20.052957+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1444","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNASEH2A as Amber List (moderate evidence)","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2022-12-14T18:20:20.041161+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1444","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2a has been classified as Amber List (Moderate Evidence).","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2022-12-14T18:20:06.573245+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1443","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 4, MIM# 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2022-12-14T18:19:11.786254+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1443","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNASEH2B as ready","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2022-12-14T18:19:11.773081+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1443","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2b has been classified as Amber List (Moderate Evidence).","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2022-12-14T18:19:08.322126+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1443","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 2, MIM# 610181","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2022-12-14T18:18:57.563933+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1442","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNASEH2B were set to ","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2022-12-14T18:18:46.630859+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1441","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: RNASEH2B.\nTag neurological tag was added to gene: RNASEH2B.","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2022-12-14T18:18:35.550616+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1441","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNASEH2B as Amber List (moderate evidence)","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2022-12-14T18:18:35.537871+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1441","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2b has been classified as Amber List (Moderate Evidence).","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2022-12-14T18:18:23.966702+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1440","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2022-12-14T18:16:30.187003+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1440","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNASEH2C as ready","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2022-12-14T18:16:30.174111+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1440","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2c has been classified as Amber List (Moderate Evidence).","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2022-12-14T18:16:26.482725+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1440","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNASEH2C were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 3, MIM# 610329","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2022-12-14T18:16:15.178733+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1439","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNASEH2C were set to ","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2022-12-14T18:16:04.654872+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1438","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNASEH2C as Amber List (moderate evidence)","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2022-12-14T18:16:04.625527+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1438","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2c has been classified as Amber List (Moderate Evidence).","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2022-12-14T18:15:54.271724+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1437","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: RNASEH2C.\nTag neurological tag was added to gene: RNASEH2C.","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2022-12-14T18:15:39.815445+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1437","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2022-12-14T18:11:51.349517+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1437","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROR2 as ready","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-12-14T18:11:51.330452+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1437","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ror2 has been classified as Red List (Low Evidence).","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-12-14T18:11:39.019131+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1437","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROR2 were changed from Robinow syndrome; Brachydactyly, type B1 to Robinow syndrome, autosomal recessive - MIM#268310","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-12-14T18:11:27.485902+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1436","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ROR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-12-14T18:11:05.424352+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1435","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ROR2 as Red List (low evidence)","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-12-14T18:11:05.412407+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1435","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ror2 has been classified as Red List (Low Evidence).","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-12-14T18:10:54.120794+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal recessive - MIM#268310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-12-14T18:09:46.051612+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPGR as ready","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-12-14T18:09:46.037426+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgr has been classified as Red List (Low Evidence).","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-12-14T18:09:38.679550+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPGR were changed from Retinitis pigmentosa to Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-12-14T18:09:26.314420+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1433","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPGR as Red List (low evidence)","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-12-14T18:09:26.300941+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1433","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgr has been classified as Red List (Low Evidence).","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-12-14T18:09:14.873634+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1432","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-12-14T18:05:23.962281+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1432","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPGRIP1L as ready","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2022-12-14T18:05:23.944423+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1432","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgrip1l has been classified as Red List (Low Evidence).","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2022-12-14T18:05:19.420992+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1432","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPGRIP1L were changed from Joubert syndrome; Meckel syndrome to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2022-12-14T18:05:07.694737+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1431","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPGRIP1L as Red List (low evidence)","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2022-12-14T18:05:07.682149+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1431","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgrip1l has been classified as Red List (Low Evidence).","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2022-12-14T18:04:55.691152+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPGRIP1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2022-12-14T18:03:26.008208+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL11 as ready","entity_name":"RPL11","entity_type":"gene"},{"created":"2022-12-14T18:03:25.995370+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl11 has been classified as Green List (High Evidence).","entity_name":"RPL11","entity_type":"gene"},{"created":"2022-12-14T18:03:19.353026+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: RPL11.\nTag haematological tag was added to gene: RPL11.","entity_name":"RPL11","entity_type":"gene"},{"created":"2022-12-14T18:03:07.079185+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL11","entity_type":"gene"},{"created":"2022-12-14T18:02:21.739948+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL15 as ready","entity_name":"RPL15","entity_type":"gene"},{"created":"2022-12-14T18:02:21.727383+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl15 has been classified as Green List (High Evidence).","entity_name":"RPL15","entity_type":"gene"},{"created":"2022-12-14T18:02:15.013391+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: RPL15.\nTag haematological tag was added to gene: RPL15.","entity_name":"RPL15","entity_type":"gene"},{"created":"2022-12-14T18:02:02.050063+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 12, MIM# 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL15","entity_type":"gene"},{"created":"2022-12-14T18:00:27.118984+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL18 as ready","entity_name":"RPL18","entity_type":"gene"},{"created":"2022-12-14T18:00:27.105739+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl18 has been classified as Red List (Low Evidence).","entity_name":"RPL18","entity_type":"gene"},{"created":"2022-12-14T18:00:20.826821+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL18 as Red List (low evidence)","entity_name":"RPL18","entity_type":"gene"},{"created":"2022-12-14T18:00:20.813538+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl18 has been classified as Red List (Low Evidence).","entity_name":"RPL18","entity_type":"gene"},{"created":"2022-12-14T18:00:08.916437+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL18: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 18, MIM# 618310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL18","entity_type":"gene"},{"created":"2022-12-14T17:59:12.510147+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL26 as ready","entity_name":"RPL26","entity_type":"gene"},{"created":"2022-12-14T17:59:12.491750+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl26 has been classified as Red List (Low Evidence).","entity_name":"RPL26","entity_type":"gene"},{"created":"2022-12-14T17:59:05.920881+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL26 as Red List (low evidence)","entity_name":"RPL26","entity_type":"gene"},{"created":"2022-12-14T17:59:05.908687+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl26 has been classified as Red List (Low Evidence).","entity_name":"RPL26","entity_type":"gene"},{"created":"2022-12-14T17:58:53.449509+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL26","entity_type":"gene"},{"created":"2022-12-14T17:58:00.565320+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL27 as ready","entity_name":"RPL27","entity_type":"gene"},{"created":"2022-12-14T17:58:00.533485+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl27 has been classified as Red List (Low Evidence).","entity_name":"RPL27","entity_type":"gene"},{"created":"2022-12-14T17:57:54.603001+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL27 as Red List (low evidence)","entity_name":"RPL27","entity_type":"gene"},{"created":"2022-12-14T17:57:54.590784+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl27 has been classified as Red List (Low Evidence).","entity_name":"RPL27","entity_type":"gene"},{"created":"2022-12-14T17:57:42.797985+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL27","entity_type":"gene"},{"created":"2022-12-14T17:56:19.884032+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL35 as ready","entity_name":"RPL35","entity_type":"gene"},{"created":"2022-12-14T17:56:19.872032+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl35 has been classified as Red List (Low Evidence).","entity_name":"RPL35","entity_type":"gene"},{"created":"2022-12-14T17:56:13.887462+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL35 as Red List (low evidence)","entity_name":"RPL35","entity_type":"gene"},{"created":"2022-12-14T17:56:13.874845+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl35 has been classified as Red List (Low Evidence).","entity_name":"RPL35","entity_type":"gene"},{"created":"2022-12-14T17:56:01.859094+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL35: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 19, MIM# 618312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL35","entity_type":"gene"},{"created":"2022-12-14T17:55:01.976596+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: RPL5.\nTag haematological tag was added to gene: RPL5.","entity_name":"RPL5","entity_type":"gene"},{"created":"2022-12-14T17:54:51.196866+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL5 as ready","entity_name":"RPL5","entity_type":"gene"},{"created":"2022-12-14T17:54:51.179272+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl5 has been classified as Green List (High Evidence).","entity_name":"RPL5","entity_type":"gene"},{"created":"2022-12-14T17:54:41.666134+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 6, MIM# 612561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL5","entity_type":"gene"},{"created":"2022-12-14T17:06:20.322084+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.26","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene. \r\n\r\nPMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination\r\n\r\nPMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline. \r\n\r\nPMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts. \r\nSources: Literature, Expert Review; to: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene. \r\n\r\nPMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination\r\n\r\nPMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline. \r\n\r\nPMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual.\r\n \r\nSources: Literature, Expert Review","entity_name":"MBD4","entity_type":"gene"},{"created":"2022-12-14T17:00:40.165536+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.26","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene. \r\n\r\nPMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination\r\n\r\nPMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline. \r\n\r\nPMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts. \nSources: Literature, Expert Review; to: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene. \r\n\r\nPMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination\r\n\r\nPMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline. \r\n\r\nPMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts. \r\nSources: Literature, Expert Review","entity_name":"MBD4","entity_type":"gene"},{"created":"2022-12-14T17:00:06.095546+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.26","user_name":"Krithika Murali","item_type":"entity","text":"gene: MBD4 was added\ngene: MBD4 was added to Bone Marrow Failure. Sources: Literature,Expert Review\nMode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MBD4 were set to PMID: 30049810; PMID:35460607; PMID:35381620\nPhenotypes for gene: MBD4 were set to Tumor predisposition syndrome 2 - MIM#619975; Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma\nReview for gene: MBD4 was set to GREEN\nAdded comment: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene. \r\n\r\nPMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination\r\n\r\nPMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline. \r\n\r\nPMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts. \nSources: Literature, Expert Review","entity_name":"MBD4","entity_type":"gene"},{"created":"2022-12-14T16:56:25.638270+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SLC35A2.\nTag treatable tag was added to gene: SLC35A2.","entity_name":"SLC35A2","entity_type":"gene"},{"created":"2022-12-14T16:54:35.816889+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SLC30A10.","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2022-12-14T16:52:38.821243+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SLC25A13.\nTag treatable tag was added to gene: SLC25A13.","entity_name":"SLC25A13","entity_type":"gene"}]}