{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=984","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=982","results":[{"created":"2022-02-21T18:42:29.696075+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3730","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nprl2 has been classified as Green List (High Evidence).","entity_name":"NPRL2","entity_type":"gene"},{"created":"2022-02-21T18:38:20.383112+11:00","panel_name":"Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPRL2 were changed from Focal epilepsy; Focal cortical dysplasia to Epilepsy, familial focal, with variable foci 2- MIM#617116","entity_name":"NPRL2","entity_type":"gene"},{"created":"2022-02-21T18:37:49.096306+11:00","panel_name":"Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPRL2 were set to 29281825; 27173016; 31625153","entity_name":"NPRL2","entity_type":"gene"},{"created":"2022-02-21T18:36:59.646606+11:00","panel_name":"Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPRL2 as Green List (high evidence)","entity_name":"NPRL2","entity_type":"gene"},{"created":"2022-02-21T18:36:59.637451+11:00","panel_name":"Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nprl2 has been classified as Green List (High Evidence).","entity_name":"NPRL2","entity_type":"gene"},{"created":"2022-02-21T18:36:00.387009+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11036","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA16 as ready","entity_name":"SPATA16","entity_type":"gene"},{"created":"2022-02-21T18:36:00.353696+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11036","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata16 has been classified as Amber List (Moderate Evidence).","entity_name":"SPATA16","entity_type":"gene"},{"created":"2022-02-21T18:35:51.958643+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11036","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPATA16 were changed from  to Spermatogenic failure 6 MIM#102530; Spermatogenic failure 6 MONDO:0007060","entity_name":"SPATA16","entity_type":"gene"},{"created":"2022-02-21T18:35:33.124954+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11035","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPATA16 were set to ","entity_name":"SPATA16","entity_type":"gene"},{"created":"2022-02-21T18:35:13.416698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11034","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPATA16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPATA16","entity_type":"gene"},{"created":"2022-02-21T18:34:55.214360+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11033","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA16 as Amber List (moderate evidence)","entity_name":"SPATA16","entity_type":"gene"},{"created":"2022-02-21T18:34:55.202541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11033","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata16 has been classified as Amber List (Moderate Evidence).","entity_name":"SPATA16","entity_type":"gene"},{"created":"2022-02-21T18:34:19.381659+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11032","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNFRSF10B as ready","entity_name":"TNFRSF10B","entity_type":"gene"},{"created":"2022-02-21T18:34:19.370447+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11032","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf10b has been classified as Red List (Low Evidence).","entity_name":"TNFRSF10B","entity_type":"gene"},{"created":"2022-02-21T18:34:11.591514+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11032","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNFRSF10B were changed from  to Squamous cell carcinoma, head and neck MIM#275355","entity_name":"TNFRSF10B","entity_type":"gene"},{"created":"2022-02-21T18:33:52.389578+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11031","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNFRSF10B were set to ","entity_name":"TNFRSF10B","entity_type":"gene"},{"created":"2022-02-21T18:33:33.105597+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11030","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNFRSF10B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TNFRSF10B","entity_type":"gene"},{"created":"2022-02-21T18:33:14.596557+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11029","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TNFRSF10B as Red List (low evidence)","entity_name":"TNFRSF10B","entity_type":"gene"},{"created":"2022-02-21T18:33:14.584782+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11029","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf10b has been classified as Red List (Low Evidence).","entity_name":"TNFRSF10B","entity_type":"gene"},{"created":"2022-02-21T18:32:40.902329+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11028","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPK8IP1 as ready","entity_name":"MAPK8IP1","entity_type":"gene"},{"created":"2022-02-21T18:32:40.889245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11028","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapk8ip1 has been classified as Red List (Low Evidence).","entity_name":"MAPK8IP1","entity_type":"gene"},{"created":"2022-02-21T18:32:33.150547+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11028","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPK8IP1 were changed from  to Susceptibility to diabetes mellitus, noninsulin-dependent MIM#125853","entity_name":"MAPK8IP1","entity_type":"gene"},{"created":"2022-02-21T18:32:12.317132+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11027","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPK8IP1 were set to ","entity_name":"MAPK8IP1","entity_type":"gene"},{"created":"2022-02-21T18:31:54.123162+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11026","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAPK8IP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAPK8IP1","entity_type":"gene"},{"created":"2022-02-21T18:31:33.679294+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11025","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAPK8IP1 as Red List (low evidence)","entity_name":"MAPK8IP1","entity_type":"gene"},{"created":"2022-02-21T18:31:33.667288+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11025","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapk8ip1 has been classified as Red List (Low Evidence).","entity_name":"MAPK8IP1","entity_type":"gene"},{"created":"2022-02-21T18:31:00.403682+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11024","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMIM1 as ready","entity_name":"SMIM1","entity_type":"gene"},{"created":"2022-02-21T18:31:00.390574+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11024","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smim1 has been classified as Red List (Low Evidence).","entity_name":"SMIM1","entity_type":"gene"},{"created":"2022-02-21T18:30:52.720833+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11024","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMIM1 were changed from  to Blood group, Vel system MIM#615264","entity_name":"SMIM1","entity_type":"gene"},{"created":"2022-02-21T18:30:32.407573+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11023","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMIM1 as Red List (low evidence)","entity_name":"SMIM1","entity_type":"gene"},{"created":"2022-02-21T18:30:32.393877+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11023","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smim1 has been classified as Red List (Low Evidence).","entity_name":"SMIM1","entity_type":"gene"},{"created":"2022-02-21T18:30:03.778472+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11022","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACKR1 as ready","entity_name":"ACKR1","entity_type":"gene"},{"created":"2022-02-21T18:30:03.757548+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11022","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ackr1 has been classified as Red List (Low Evidence).","entity_name":"ACKR1","entity_type":"gene"},{"created":"2022-02-21T18:29:54.027216+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11022","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACKR1 were changed from  to Blood group, Duffy system MIM#110700","entity_name":"ACKR1","entity_type":"gene"},{"created":"2022-02-21T18:29:33.504173+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11021","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACKR1 as Red List (low evidence)","entity_name":"ACKR1","entity_type":"gene"},{"created":"2022-02-21T18:29:33.493058+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11021","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ackr1 has been classified as Red List (Low Evidence).","entity_name":"ACKR1","entity_type":"gene"},{"created":"2022-02-21T18:29:04.533010+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11020","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OGG1 as ready","entity_name":"OGG1","entity_type":"gene"},{"created":"2022-02-21T18:29:04.515516+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11020","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogg1 has been classified as Red List (Low Evidence).","entity_name":"OGG1","entity_type":"gene"},{"created":"2022-02-21T18:28:56.630859+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11020","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OGG1 were changed from  to Renal cell carcinoma, clear cell, somatic MIM#144700","entity_name":"OGG1","entity_type":"gene"},{"created":"2022-02-21T18:28:37.008363+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11019","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OGG1 were set to ","entity_name":"OGG1","entity_type":"gene"},{"created":"2022-02-21T18:28:17.764722+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11018","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OGG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OGG1","entity_type":"gene"},{"created":"2022-02-21T18:27:59.070323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11017","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OGG1 as Red List (low evidence)","entity_name":"OGG1","entity_type":"gene"},{"created":"2022-02-21T18:27:59.060513+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11017","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogg1 has been classified as Red List (Low Evidence).","entity_name":"OGG1","entity_type":"gene"},{"created":"2022-02-21T18:27:21.085681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11016","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B3GALNT1 as ready","entity_name":"B3GALNT1","entity_type":"gene"},{"created":"2022-02-21T18:27:21.074071+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11016","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3galnt1 has been classified as Red List (Low Evidence).","entity_name":"B3GALNT1","entity_type":"gene"},{"created":"2022-02-21T18:27:13.812870+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11016","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B3GALNT1 were changed from  to Blood group, globoside system MIM#615021","entity_name":"B3GALNT1","entity_type":"gene"},{"created":"2022-02-21T18:26:53.486656+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11015","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B3GALNT1 as Red List (low evidence)","entity_name":"B3GALNT1","entity_type":"gene"},{"created":"2022-02-21T18:26:53.475981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11015","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3galnt1 has been classified as Red List (Low Evidence).","entity_name":"B3GALNT1","entity_type":"gene"},{"created":"2022-02-21T18:26:23.704818+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11014","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERPINA7 as ready","entity_name":"SERPINA7","entity_type":"gene"},{"created":"2022-02-21T18:26:23.691799+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11014","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpina7 has been classified as Green List (High Evidence).","entity_name":"SERPINA7","entity_type":"gene"},{"created":"2022-02-21T18:26:15.439701+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11014","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SERPINA7 were changed from  to Thyroxine-binding globulin QTL MIM#300932; Thyroxine-binding globulin deficiency","entity_name":"SERPINA7","entity_type":"gene"},{"created":"2022-02-21T18:25:56.449147+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11013","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SERPINA7 were set to ","entity_name":"SERPINA7","entity_type":"gene"},{"created":"2022-02-21T18:25:35.413497+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11012","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SERPINA7 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"SERPINA7","entity_type":"gene"},{"created":"2022-02-21T17:25:04.123303+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3729","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26437029, 27718516, 30513135; Phenotypes: Short stature, brachydactyly, intellectual developmental disability, and seizures, OMIM #617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRMT7","entity_type":"gene"},{"created":"2022-02-21T17:24:20.423548+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3729","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: TBC1D24: Changed publications: 25719194","entity_name":"TBC1D24","entity_type":"gene"},{"created":"2022-02-21T17:23:59.488576+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3729","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: TBC1D24: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBC1D24","entity_type":"gene"},{"created":"2022-02-21T17:23:47.610727+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3729","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: TBC1D24: Rating: ; Mode of pathogenicity: None; Publications: Polyhydramnios is often noted when a fetus has DOORS syndrome [James et al 2007]. A subsequent affected pregnancy in one family with DOORS syndrome was terminated due to an elevated nuchal translucency of 5.1 mm at 12 weeks' estimated gestational age; Phenotypes: Developmental and epileptic encephalopathy 16 MIM#615338, DOORS syndrome MIM#220500, Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105, Myoclonic epilepsy, infantile, familial MIM#605021; Mode of inheritance: None; Current diagnostic: yes","entity_name":"TBC1D24","entity_type":"gene"},{"created":"2022-02-21T17:21:34.549975+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3729","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PKD2 as Green List (high evidence)","entity_name":"PKD2","entity_type":"gene"},{"created":"2022-02-21T17:21:34.537195+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3729","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pkd2 has been classified as Green List (High Evidence).","entity_name":"PKD2","entity_type":"gene"},{"created":"2022-02-21T17:21:24.709779+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3728","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26139440; Phenotypes: Polycystic kidney disease 2, OMIM #613095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PKD2","entity_type":"gene"},{"created":"2022-02-21T17:19:33.618039+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3728","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their review","entity_name":"PKD2","entity_type":"gene"},{"created":"2022-02-21T17:19:25.392932+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3728","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: Rare cases of ADPKD diagnosed antenatally, usually with biallelic variants. Suitable for fetal anomalies panel.; to: Rare cases of ADPKD diagnosed antenatally, usually with biallelic variants. Suitable for fetal anomalies panel.","entity_name":"PKD1","entity_type":"gene"},{"created":"2022-02-21T17:17:58.826675+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3728","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"PKD1","entity_type":"gene"},{"created":"2022-02-21T17:17:44.708275+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3728","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: PKD1: Added comment: Rare cases of ADPKD diagnosed antenatally, usually with biallelic variants. Suitable for fetal anomalies panel.; Changed rating: GREEN; Changed publications: PMID: 30631912, 26139440; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PKD1","entity_type":"gene"},{"created":"2022-02-21T17:15:12.510350+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3728","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PKD1 as Green List (high evidence)","entity_name":"PKD1","entity_type":"gene"},{"created":"2022-02-21T17:15:12.497146+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3728","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pkd1 has been classified as Green List (High Evidence).","entity_name":"PKD1","entity_type":"gene"},{"created":"2022-02-21T17:15:02.899797+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3727","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: PKD1 were changed from Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD); Polycystic kidney disease, 173900 to Autosomal dominant polycystic kidney disease (ADPKD); Polycystic kidney disease, 173900","entity_name":"PKD1","entity_type":"gene"},{"created":"2022-02-21T17:12:58.817008+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3726","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 14608649, 15657873, 15121777, 26063465; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PHOX2B","entity_type":"gene"},{"created":"2022-02-21T17:08:24.918678+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3726","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 10545950, 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, OMIM #208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRG4","entity_type":"gene"},{"created":"2022-02-21T17:05:52.247333+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3726","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26333996, 23479567, 23695678; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380, Lymphatic malformation 6,  OMIM #616843; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PIEZO1","entity_type":"gene"},{"created":"2022-02-21T16:57:25.420837+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11011","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 25719194; Phenotypes: Deafness, autosomal dominant 65 MIM#616044, Deafness, autosomal recessive 86 MIM#614617, Developmental and epileptic encephalopathy 16 MIM#615338, DOORS syndrome MIM#220500, Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105, Myoclonic epilepsy, infantile, familial MIM#605021; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TBC1D24","entity_type":"gene"},{"created":"2022-02-21T16:56:42.017916+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3726","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2 , OMIM #609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLOD2","entity_type":"gene"},{"created":"2022-02-21T16:53:15.342725+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3726","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15666309, 20301635, 28757364; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM #225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLOD1","entity_type":"gene"},{"created":"2022-02-21T16:48:07.364368+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3726","user_name":"Krithika Murali","item_type":"entity","text":"gene: THRB was added\ngene: THRB was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: THRB were set to 35130567; 30430796; 30074255; 28938413; 4163616\nPhenotypes for gene: THRB were set to Thyroid hormone resistance, autosomal recessive - MIM#274300; Thyroid hormone resistance - MIM#188570; Thyroid hormone resistance, selective pituitary - MIM#145650\nReview for gene: THRB was set to GREEN\nAdded comment: Biallelic variants associated with thyroid hormone resistance. PMID 4163616 first reported this condition in a consanguineous Mexican family with congenital deafness, goitre and stippled epiphyses.  Diagnosis was made incidentally at a later age but possibility of goitre being detected antenatally.  SGA also reported but this is generally in the context of having a mother also affected by thyroid hormone resistance secondary to biallelic or monoallelic variants. \nSources: Literature","entity_name":"THRB","entity_type":"gene"},{"created":"2022-02-21T16:47:24.127208+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3726","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PHF6 as Red List (low evidence)","entity_name":"PHF6","entity_type":"gene"},{"created":"2022-02-21T16:47:24.115437+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3726","user_name":"Chirag Patel","item_type":"entity","text":"Gene: phf6 has been classified as Red List (Low Evidence).","entity_name":"PHF6","entity_type":"gene"},{"created":"2022-02-21T16:47:10.263953+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3725","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PHF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, OMIM # 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"PHF6","entity_type":"gene"},{"created":"2022-02-21T16:43:40.819465+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3725","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PEPD as Red List (low evidence)","entity_name":"PEPD","entity_type":"gene"},{"created":"2022-02-21T16:43:40.808963+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3725","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pepd has been classified as Red List (Low Evidence).","entity_name":"PEPD","entity_type":"gene"},{"created":"2022-02-21T16:43:36.503620+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3725","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PEPD as Red List (low evidence)","entity_name":"PEPD","entity_type":"gene"},{"created":"2022-02-21T16:43:36.460529+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3725","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pepd has been classified as Red List (Low Evidence).","entity_name":"PEPD","entity_type":"gene"},{"created":"2022-02-21T16:43:22.841947+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3724","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PEPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Prolidase deficiency, OMIM #170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEPD","entity_type":"gene"},{"created":"2022-02-21T16:36:20.649549+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3724","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TBC1D23","entity_type":"gene"},{"created":"2022-02-21T16:21:05.197872+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3724","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: [PubMed: 12015277; Phenotypes: Anterior segment dysgenesis 4, OMIM #137600, Axenfeld-Rieger syndrome, type 1, OMIM #180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PITX2","entity_type":"gene"},{"created":"2022-02-21T16:19:36.876957+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3724","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TAPT1","entity_type":"gene"},{"created":"2022-02-21T16:16:51.655972+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3724","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PKD2 as Red List (low evidence)","entity_name":"PKD2","entity_type":"gene"},{"created":"2022-02-21T16:16:51.645237+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3724","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pkd2 has been classified as Red List (Low Evidence).","entity_name":"PKD2","entity_type":"gene"},{"created":"2022-02-21T16:16:40.401798+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3723","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PKD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 2, OMIM #613095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PKD2","entity_type":"gene"},{"created":"2022-02-21T16:15:40.344223+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3723","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PKD1 as Red List (low evidence)","entity_name":"PKD1","entity_type":"gene"},{"created":"2022-02-21T16:15:40.332555+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3723","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pkd1 has been classified as Red List (Low Evidence).","entity_name":"PKD1","entity_type":"gene"},{"created":"2022-02-21T16:15:29.711124+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3722","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, OMIM #173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PKD1","entity_type":"gene"},{"created":"2022-02-21T16:12:50.072415+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3722","user_name":"Krithika Murali","item_type":"entity","text":"gene: TBL1X was added\ngene: TBL1X was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: TBL1X were set to 30591955; 27603907\nPhenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 - MIM#301033\nReview for gene: TBL1X was set to AMBER\nAdded comment: Associated with central congenital hypothyroidism. Antenatal phenotype not reported.  Thyroid hypoplasia has been noted in affected individuals.  Generally diagnosed after newborn screening or later in childhood. \nSources: Literature","entity_name":"TBL1X","entity_type":"gene"},{"created":"2022-02-21T16:12:34.155641+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3722","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 22426308, 22726846, 23929686; Phenotypes: Coffin-Siris syndrome 3, OMIM #614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2022-02-21T16:09:38.384890+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3722","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33230783, 28358460; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2022-02-21T16:09:36.623642+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3722","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25388407, 23315216, 29923087, 26238251, 11283793; Phenotypes: Transaldolase deficiency, OMIM #606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TALDO1","entity_type":"gene"},{"created":"2022-02-21T16:04:03.311812+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3722","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25344692, 25320347, 33756487, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLK4","entity_type":"gene"},{"created":"2022-02-21T15:54:32.821372+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3722","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 17668387, 19526370, 20693550, 30470562; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) , OMIM #245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2022-02-21T15:50:17.514072+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3722","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 1570829, 1734522, 9143916, 12764225; Phenotypes: 46XY sex reversal 1, OMIM #400044, 46XX sex reversal 1, OMIM #400045; Mode of inheritance: Other","entity_name":"SRY","entity_type":"gene"},{"created":"2022-02-21T15:48:46.875893+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3722","user_name":"Krithika Murali","item_type":"entity","text":"gene: TG was added\ngene: TG was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TG were set to 33832185; 19169491; 28620499; 18631008; 12915634\nPhenotypes for gene: TG were set to Thyroid dyshormonogenesis 3 - MIM#274700\nReview for gene: TG was set to GREEN\nAdded comment: Well-established gene-disease association with congenital hypothyroidism and fetal goitre. \nSources: Literature","entity_name":"TG","entity_type":"gene"},{"created":"2022-02-21T15:42:50.139202+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3722","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC5A5 was added\ngene: SLC5A5 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A5 were set to 34806438; 34726525; 33815280; 32805706; 31115276\nPhenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1 - MIM#274400\nReview for gene: SLC5A5 was set to GREEN\nAdded comment: Biallelic variants associated with congenital hypothyroidism. PMID 32805706 Stoupa et al 2020 report an affected male with antenatal goitre diagnosed at 25 weeks gestation and treated with intraamniotic levothyroxine injections. \nSources: Literature","entity_name":"SLC5A5","entity_type":"gene"}]}