{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1008","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1006","results":[{"created":"2022-02-03T09:20:39.277874+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLE were changed from severe growth failure of prenatal onset; IUGR; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) to IMAGE-I syndrome 618336","entity_name":"POLE","entity_type":"gene"},{"created":"2022-02-03T09:20:26.275334+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLE were set to 23230001; 25948378","entity_name":"POLE","entity_type":"gene"},{"created":"2022-02-03T09:19:36.436098+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3121","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLE as Green List (high evidence)","entity_name":"POLE","entity_type":"gene"},{"created":"2022-02-03T09:19:36.424400+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pole has been classified as Green List (High Evidence).","entity_name":"POLE","entity_type":"gene"},{"created":"2022-02-03T09:18:46.828716+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLPBP as ready","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:18:46.816575+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plpbp has been classified as Green List (High Evidence).","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:18:42.721922+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3120","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:18:30.183506+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3119","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLPBP were set to ","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:18:18.643837+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLPBP as Green List (high evidence)","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:18:18.627481+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plpbp has been classified as Green List (High Evidence).","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:18:06.995295+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3117","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Over 20 individuals reported. The most severe phenotypes were associated with variants leading to loss of function of PLPBP or significantly affecting protein stability/PLP-binding.; to: Over 20 individuals reported. The most severe phenotypes were associated with variants leading to loss of function of PLPBP or significantly affecting protein stability/PLP-binding.\r\n\r\nAbnormal fetal movements reported.","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:16:35.713755+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3117","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLG as ready","entity_name":"PLG","entity_type":"gene"},{"created":"2022-02-03T09:16:35.702104+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plg has been classified as Green List (High Evidence).","entity_name":"PLG","entity_type":"gene"},{"created":"2022-02-03T09:16:32.191850+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3117","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090 to Plasminogen deficiency, type I, MIM# 217090; Hydrocephalus","entity_name":"PLG","entity_type":"gene"},{"created":"2022-02-03T09:16:13.602404+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3116","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLG were set to ","entity_name":"PLG","entity_type":"gene"},{"created":"2022-02-03T09:16:01.566924+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3115","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLG as Green List (high evidence)","entity_name":"PLG","entity_type":"gene"},{"created":"2022-02-03T09:16:01.363462+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plg has been classified as Green List (High Evidence).","entity_name":"PLG","entity_type":"gene"},{"created":"2022-02-03T09:11:53.252882+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3114","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLD1 as ready","entity_name":"PLD1","entity_type":"gene"},{"created":"2022-02-03T09:11:53.242877+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pld1 has been classified as Green List (High Evidence).","entity_name":"PLD1","entity_type":"gene"},{"created":"2022-02-03T09:11:46.225730+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3114","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLD1 as Green List (high evidence)","entity_name":"PLD1","entity_type":"gene"},{"created":"2022-02-03T09:11:46.216225+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pld1 has been classified as Green List (High Evidence).","entity_name":"PLD1","entity_type":"gene"},{"created":"2022-02-03T09:10:33.347008+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOPORS as ready","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-02-03T09:10:33.335134+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: topors has been classified as Amber List (Moderate Evidence).","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-02-03T09:10:23.950805+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TOPORS as Amber List (moderate evidence)","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-02-03T09:10:23.938509+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: topors has been classified as Amber List (Moderate Evidence).","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-02-03T09:09:19.291290+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPINT2 were changed from Diarrhea 3, secretory sodium, congenital, syndromic - MIM#270420; congenital secretory sodium diarrhea 3 - MONDO0010036 to Diarrhoea 3, secretory sodium, congenital, syndromic - MIM#270420; congenital secretory sodium diarrhea 3 - MONDO#0010036","entity_name":"SPINT2","entity_type":"gene"},{"created":"2022-02-03T09:08:51.074593+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3111","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic - MIM#270420, congenital secretory sodium diarrhea 3 - MONDO#0010036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPINT2","entity_type":"gene"},{"created":"2022-02-03T08:29:55.690744+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPINT2 as ready","entity_name":"SPINT2","entity_type":"gene"},{"created":"2022-02-03T08:29:55.678372+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spint2 has been classified as Green List (High Evidence).","entity_name":"SPINT2","entity_type":"gene"},{"created":"2022-02-03T08:29:49.277385+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3111","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPINT2 as Green List (high evidence)","entity_name":"SPINT2","entity_type":"gene"},{"created":"2022-02-03T08:29:49.263844+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spint2 has been classified as Green List (High Evidence).","entity_name":"SPINT2","entity_type":"gene"},{"created":"2022-02-03T08:29:16.194872+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3110","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPS29 as ready","entity_name":"RPS29","entity_type":"gene"},{"created":"2022-02-03T08:29:16.183562+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps29 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS29","entity_type":"gene"},{"created":"2022-02-03T08:29:10.055605+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3110","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS29 as Amber List (moderate evidence)","entity_name":"RPS29","entity_type":"gene"},{"created":"2022-02-03T08:29:10.037372+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps29 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS29","entity_type":"gene"},{"created":"2022-02-03T08:28:08.386424+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPS28 as ready","entity_name":"RPS28","entity_type":"gene"},{"created":"2022-02-03T08:28:08.376121+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps28 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS28","entity_type":"gene"},{"created":"2022-02-03T08:28:00.400845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3109","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS28 as Amber List (moderate evidence)","entity_name":"RPS28","entity_type":"gene"},{"created":"2022-02-03T08:28:00.385871+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps28 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS28","entity_type":"gene"},{"created":"2022-02-03T08:27:28.589642+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL15 as ready","entity_name":"RPL15","entity_type":"gene"},{"created":"2022-02-03T08:27:28.576206+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.219","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":"2022-02-03T08:27:11.962031+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL15 as Green List (high evidence)","entity_name":"RPL15","entity_type":"gene"},{"created":"2022-02-03T08:27:11.949651+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.219","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":"2022-02-03T08:26:21.377761+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL15 as ready","entity_name":"RPL15","entity_type":"gene"},{"created":"2022-02-03T08:26:21.366126+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3108","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":"2022-02-03T08:26:15.542786+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL15 as Green List (high evidence)","entity_name":"RPL15","entity_type":"gene"},{"created":"2022-02-03T08:26:15.528288+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3108","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":"2022-02-03T08:25:39.464414+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPLA6 as ready","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2022-02-03T08:25:39.453967+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpla6 has been classified as Red List (Low Evidence).","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2022-02-03T08:25:36.225843+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPLA6 were changed from  to Laurence-Moon syndrome - MIM#245800; Boucher-Neuhauser syndrome - MIM#215470; Oliver-McFarlane syndrome - #275400; Spastic paraplegia 39, autosomal recessive - #612020","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2022-02-03T08:25:07.986347+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNPLA6 were set to ","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2022-02-03T08:24:36.931266+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNPLA6 as Red List (low evidence)","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2022-02-03T08:24:36.921430+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpla6 has been classified as Red List (Low Evidence).","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2022-02-03T08:23:23.735611+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4489","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CENPJ were set to 20522431; 23166506; 15793586; 20978018; 22775483; 32677750; 32549991","entity_name":"CENPJ","entity_type":"gene"},{"created":"2022-02-03T08:22:43.624145+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4488","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: CENPJ: PMID 34068194: two further families reported with Seckel syndrome, same homozygous missense, founder?","entity_name":"CENPJ","entity_type":"gene"},{"created":"2022-02-03T08:22:17.621451+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.102","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CENPJ were set to 15793586; 16900296; 2097801822775483; 20522431; 32677750; 32549991; 30626697","entity_name":"CENPJ","entity_type":"gene"},{"created":"2022-02-03T08:21:18.538646+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CENPJ: Added comment: PMID 34068194: two further families reported with Seckel syndrome, same homozygous missense, founder?; Changed publications: 15793586, 16900296, 2097801822775483, 20522431, 32677750, 32549991, 30626697, 34068194","entity_name":"CENPJ","entity_type":"gene"},{"created":"2022-02-03T08:20:32.590130+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10889","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CENPJ were set to 20522431; 23166506; 15793586; 20978018; 22775483; 32677750; 32549991","entity_name":"CENPJ","entity_type":"gene"},{"created":"2022-02-03T08:20:07.538721+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10888","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CENPJ: Added comment: PMID 34068194: two further families reported with Seckel syndrome, same homozygous missense, founder?; Changed publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991, 34068194","entity_name":"CENPJ","entity_type":"gene"},{"created":"2022-02-03T08:19:20.175378+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CENPJ as Amber List (moderate evidence)","entity_name":"CENPJ","entity_type":"gene"},{"created":"2022-02-03T08:19:20.163809+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cenpj has been classified as Amber List (Moderate Evidence).","entity_name":"CENPJ","entity_type":"gene"},{"created":"2022-02-03T08:19:09.366126+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CENPJ: Added comment: PMID 34068194: two further families reported, same homozygous missense, founder?; Changed rating: AMBER; Changed publications: 20522431, 23166506, 34068194","entity_name":"CENPJ","entity_type":"gene"},{"created":"2022-02-03T08:15:10.564871+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPLA6 as ready","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2022-02-03T08:15:10.548239+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpla6 has been classified as Amber List (Moderate Evidence).","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2022-02-03T08:15:04.067891+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3107","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNPLA6 as Amber List (moderate evidence)","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2022-02-03T08:15:04.053835+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpla6 has been classified as Amber List (Moderate Evidence).","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2022-02-03T08:13:03.984918+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10888","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MVD were changed from Porokeratosis 7, multiple types, MIM# 614714 to Porokeratosis 7, multiple types, MIM# 614714; Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR","entity_name":"MVD","entity_type":"gene"},{"created":"2022-02-03T08:12:41.750938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10887","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MVD were set to 30942823; 33491095","entity_name":"MVD","entity_type":"gene"},{"created":"2022-02-02T17:03:39.928483+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3106","user_name":"Krithika Murali","item_type":"entity","text":"gene: TOPORS was added\ngene: TOPORS was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOPORS were set to 34132027\nPhenotypes for gene: TOPORS were set to MONDO:0005308; ciliopathy; postaxial polydactyly; multiple lingual hamartomas; dysmorphic features\nReview for gene: TOPORS was set to AMBER\nAdded comment: Gene recently reviewed, no new publications since\r\n\r\n--\r\n\r\nPMID:34132027 - Two unrelated probands with postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features both found to be homozygous for the same missense variant (p.Pro10Gln). Suggested possible founder allele. Further search did not identify any additional publications.\r\n\r\nNote mono-allelic variants associated with RP. \nSources: Literature","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-02-02T16:59:49.378089+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3106","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33029133, 29575628, 28716867, 24142340, 30445423, 19185281, 20009592, 24142340; Phenotypes: Diarrhea 3, secretory sodium, congenital, syndromic - MIM#270420, congenital secretory sodium diarrhea 3 - MONDO#0010036; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPINT2","entity_type":"gene"},{"created":"2022-02-02T16:50:19.751770+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3106","user_name":"Krithika Murali","item_type":"entity","text":"gene: SPINT2 was added\ngene: SPINT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPINT2 were set to 19185281; 20009592; 24142340; 30445423; 33547739; 33374714; 33029133\nPhenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic - MIM#270420; congenital secretory sodium diarrhea 3 - MONDO0010036","entity_name":"SPINT2","entity_type":"gene"},{"created":"2022-02-02T16:40:42.967845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3106","user_name":"Krithika Murali","item_type":"entity","text":"gene: RPS29 was added\ngene: RPS29 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS29 were set to 24829207\nPhenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13 - MIM#615909\nReview for gene: RPS29 was set to AMBER\nAdded comment: 2 unrelated families reported with Diamond Blackfan anaemia.  DBA known to be associated with congenital malformations.  1 affected individual reported in this publication to have congenital aortic stenosis and Sprengel deformity. \nSources: Literature","entity_name":"RPS29","entity_type":"gene"},{"created":"2022-02-02T16:25:42.053714+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3106","user_name":"Krithika Murali","item_type":"entity","text":"gene: RPS28 was added\ngene: RPS28 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS28 were set to 24942156\nPhenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164\nReview for gene: RPS28 was set to AMBER\nAdded comment: 2 unrelated families reported in 2014. Antenatally detectable phenotypic features included cleft palate, micrognathia, cardiac, auricular and renal anomalies \nSources: Literature","entity_name":"RPS28","entity_type":"gene"},{"created":"2022-02-02T16:14:47.154913+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10886","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCD1 as ready","entity_name":"PLCD1","entity_type":"gene"},{"created":"2022-02-02T16:14:47.141165+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10886","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcd1 has been classified as Green List (High Evidence).","entity_name":"PLCD1","entity_type":"gene"},{"created":"2022-02-02T16:14:39.257957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10886","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCD1 were changed from  to Nail disorder, nonsyndromic congenital, 3, (leukonychia) MIM#151600; nonsyndromic congenital nail disorder 3 MONDO:0007900","entity_name":"PLCD1","entity_type":"gene"},{"created":"2022-02-02T16:14:18.542064+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10885","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLCD1 were set to ","entity_name":"PLCD1","entity_type":"gene"},{"created":"2022-02-02T16:13:54.935630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10884","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLCD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLCD1","entity_type":"gene"},{"created":"2022-02-02T16:12:54.201862+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10883","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKAP10 as ready","entity_name":"AKAP10","entity_type":"gene"},{"created":"2022-02-02T16:12:54.191583+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10883","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akap10 has been classified as Red List (Low Evidence).","entity_name":"AKAP10","entity_type":"gene"},{"created":"2022-02-02T16:11:18.698176+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10883","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKAP10 were changed from  to {Cardiac conduction defect, susceptibility to} MIM#115080; sudden cardiac arrest MONDO:0007264","entity_name":"AKAP10","entity_type":"gene"},{"created":"2022-02-02T16:10:58.941196+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10882","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKAP10 were set to ","entity_name":"AKAP10","entity_type":"gene"},{"created":"2022-02-02T16:10:38.571224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10881","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AKAP10 as Red List (low evidence)","entity_name":"AKAP10","entity_type":"gene"},{"created":"2022-02-02T16:10:38.559811+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10881","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akap10 has been classified as Red List (Low Evidence).","entity_name":"AKAP10","entity_type":"gene"},{"created":"2022-02-02T16:09:52.858592+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10880","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HMCN1 as ready","entity_name":"HMCN1","entity_type":"gene"},{"created":"2022-02-02T16:09:52.847742+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10880","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hmcn1 has been classified as Red List (Low Evidence).","entity_name":"HMCN1","entity_type":"gene"},{"created":"2022-02-02T16:09:41.553496+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10880","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HMCN1 were changed from  to {Macular degeneration, age-related, 1} MIM#603075; age related macular degeneration 1 MONDO:0011285","entity_name":"HMCN1","entity_type":"gene"},{"created":"2022-02-02T16:09:20.182096+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10879","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HMCN1 were set to ","entity_name":"HMCN1","entity_type":"gene"},{"created":"2022-02-02T16:08:57.332456+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10878","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HMCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HMCN1","entity_type":"gene"},{"created":"2022-02-02T16:08:39.286934+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10877","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HMCN1 as Red List (low evidence)","entity_name":"HMCN1","entity_type":"gene"},{"created":"2022-02-02T16:08:39.272524+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10877","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hmcn1 has been classified as Red List (Low Evidence).","entity_name":"HMCN1","entity_type":"gene"},{"created":"2022-02-02T16:07:46.666399+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PYROXD1 as ready","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2022-02-02T16:07:46.657204+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pyroxd1 has been classified as Red List (Low Evidence).","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2022-02-02T16:07:07.736218+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PYROXD1 were changed from Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization to Myopathy, myofibrillar, 8 (MIM#617258)","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2022-02-02T16:06:55.380194+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3105","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PYROXD1 were set to ","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2022-02-02T16:05:56.080099+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PYROXD1 as Red List (low evidence)","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2022-02-02T16:05:56.067816+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pyroxd1 has been classified as Red List (Low Evidence).","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2022-02-02T16:05:20.193724+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10876","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCND1 as ready","entity_name":"CCND1","entity_type":"gene"},{"created":"2022-02-02T16:05:20.182134+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10876","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccnd1 has been classified as Red List (Low Evidence).","entity_name":"CCND1","entity_type":"gene"},{"created":"2022-02-02T16:05:11.328394+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10876","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCND1 were set to ","entity_name":"CCND1","entity_type":"gene"}]}