{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=260","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=258","results":[{"created":"2025-04-24T12:53:44.523379+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2053","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMT2 as ready","entity_name":"POMT2","entity_type":"gene"},{"created":"2025-04-24T12:53:44.516051+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2053","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomt2 has been classified as Green List (High Evidence).","entity_name":"POMT2","entity_type":"gene"},{"created":"2025-04-24T12:53:41.363604+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2053","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156","entity_name":"POMT2","entity_type":"gene"},{"created":"2025-04-24T12:50:27.162269+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2052","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POMT2 were set to ","entity_name":"POMT2","entity_type":"gene"},{"created":"2025-04-24T12:49:40.070807+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2051","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLG as ready","entity_name":"POLG","entity_type":"gene"},{"created":"2025-04-24T12:49:40.064388+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2051","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Green List (High Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2025-04-24T12:49:37.712238+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2051","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662","entity_name":"POLG","entity_type":"gene"},{"created":"2025-04-24T12:49:22.383976+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2050","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLG","entity_type":"gene"},{"created":"2025-04-24T12:42:15.105524+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"edited their review of gene: KIF14: Changed phenotypes: Autosomal recessive lethal fetal ciliopathy","entity_name":"KIF14","entity_type":"gene"},{"created":"2025-04-24T12:41:28.774870+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: KIF14 was added\ngene: KIF14 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF14 were set to 24128419; 30388224\nReview for gene: KIF14 was set to GREEN\nAdded comment: i) PMID: 24128419- First human phenotype associated with biallelic inactivating mutations of KIF14, reported 2 affected fetuses in a family with a recurrent fetal pattern of multiple congenital anomalies (MCA), which was considered to be lethal because of distinct brain and kidney malformations, which were both terminated before 20 weeks carrying LOF com het p.Glu584Ilefs*16 and p.Arg594*.Very recently, homozygous mutations in Kif14 (G/A substitution at the 3′ splice acceptor site of Kif14 exon 5) were identified in a novel spontaneous mouse mutant, laggard (lag). which recapitulated most of the fetal phenotypes including the brain malformations, reduced brain size, general growth restriction and early lethality seen in this family (PMID: 23308235).\r\n\r\nii) PMID: 30388224- Novel biallelic KIF14 variants in fetuses (IUFD) from 4 unrelated families presenting with strikingly similar severe brain and kidney phenotypes- renal hypodysplasia and microcephaly, diagnosed as lethal, highly penetrant syndromic CAKUT with microcephaly. Functional studies using transfection study and zebrafish models are supportive that loss of KIF14 result in defects in cytokinesis, microcephaly and ciliopathy-related phenotypes. \nSources: Literature","entity_name":"KIF14","entity_type":"gene"},{"created":"2025-04-24T12:37:38.610438+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2050","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPLA6 as ready","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-04-24T12:37:38.603639+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2050","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpla6 has been classified as Green List (High Evidence).","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-04-24T12:37:35.952296+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2050","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPLA6 were changed from Boucher-Neuhauser syndrome, 215470 (3) to Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39, autosomal recessive MIM#612020","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-04-24T12:37:26.109170+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2049","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNPLA6 were set to ","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-04-24T12:36:35.884305+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2048","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNP as ready","entity_name":"PNP","entity_type":"gene"},{"created":"2025-04-24T12:36:35.877378+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2048","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnp has been classified as Green List (High Evidence).","entity_name":"PNP","entity_type":"gene"},{"created":"2025-04-24T12:36:32.259815+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2048","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNP were set to ","entity_name":"PNP","entity_type":"gene"},{"created":"2025-04-24T12:36:22.489047+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2047","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PNP: Changed publications: 3029074, 1384322, 11453975, 32695102, 32514656","entity_name":"PNP","entity_type":"gene"},{"created":"2025-04-24T12:36:08.461862+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2047","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNP were changed from Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3) to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179","entity_name":"PNP","entity_type":"gene"},{"created":"2025-04-24T12:35:52.990946+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2046","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNP","entity_type":"gene"},{"created":"2025-04-24T12:34:45.798750+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2046","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF6 as ready","entity_name":"PHF6","entity_type":"gene"},{"created":"2025-04-24T12:34:45.788381+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2046","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf6 has been classified as Green List (High Evidence).","entity_name":"PHF6","entity_type":"gene"},{"created":"2025-04-24T12:34:43.171421+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2046","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHF6 were changed from Borjeson-Forssman-Lehmann syndrome, 301900 (3) to Borjeson-Forssman-Lehmann syndrome, MIM# 301900","entity_name":"PHF6","entity_type":"gene"},{"created":"2025-04-24T12:34:29.802871+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2045","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF6","entity_type":"gene"},{"created":"2025-04-24T12:34:15.382125+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: GBE1 was added\ngene: GBE1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBE1 were set to 33772059; 25489661; 26166723\nPhenotypes for gene: GBE1 were set to Glycogen storage disease IV, MIM# 232500\nReview for gene: GBE1 was set to GREEN\nAdded comment: i) PMID: 33772059- one Iranian family with RPL (Fam 90759 , a 13-week fetus with hydrops fetalis observed in ultrasonography) carrying compound heterozygous p.156R>H and c.-35_-54del GCTCAGGCCCCACTCGACCC.\r\n \r\nii) PMID: 25489661- compound heterozygous c.1937delT and c.691+2T>C in a female with spontaneous miscarriage at 8 weeks of gestation with diagnosis of Glycogen storage disease type IV (GSD IV) supported by  pathological examination of immature villi.\r\n\r\niii) PMID: 26166723-ompound heterozygous c.691+2T>C and p.R524X in A 30-yr-old woman presented with 2 consecutive miscarriages within 7 month with diagnosis of Glycogen storage disease type IV (GSD IV) supported by  pathological examination of placental tissues. Concluded that glycogen storage disease Type IV can cause early miscarriage and that diagnosis can initially be made on histopathologic examination. \nSources: Literature","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-04-24T12:33:20.407388+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2045","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PET100 as ready","entity_name":"PET100","entity_type":"gene"},{"created":"2025-04-24T12:33:20.397990+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2045","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pet100 has been classified as Green List (High Evidence).","entity_name":"PET100","entity_type":"gene"},{"created":"2025-04-24T12:33:17.808536+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2045","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency, 220110 (3) to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055","entity_name":"PET100","entity_type":"gene"},{"created":"2025-04-24T12:33:03.674715+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2044","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PET100","entity_type":"gene"},{"created":"2025-04-24T12:32:05.323119+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2044","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDP1 as ready","entity_name":"PDP1","entity_type":"gene"},{"created":"2025-04-24T12:32:05.317610+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2044","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdp1 has been classified as Green List (High Evidence).","entity_name":"PDP1","entity_type":"gene"},{"created":"2025-04-24T12:32:02.856983+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2044","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDP1 were changed from Pyruvate dehydrogenase phosphatase deficiency, 608782 (3) to Pyruvate dehydrogenase phosphatase deficiency,MIM#608782","entity_name":"PDP1","entity_type":"gene"},{"created":"2025-04-24T12:31:52.776599+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2043","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDP1 were set to ","entity_name":"PDP1","entity_type":"gene"},{"created":"2025-04-24T12:31:16.963782+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2042","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCSK1 as ready","entity_name":"PCSK1","entity_type":"gene"},{"created":"2025-04-24T12:31:16.957560+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2042","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcsk1 has been classified as Green List (High Evidence).","entity_name":"PCSK1","entity_type":"gene"},{"created":"2025-04-24T12:31:13.877892+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2042","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, 600955 (3) to Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955","entity_name":"PCSK1","entity_type":"gene"},{"created":"2025-04-24T12:30:45.586206+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: SCN5A was added\ngene: SCN5A was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SCN5A were set to 33772059; 32421437; 23571586; 15184283\nReview for gene: SCN5A was set to GREEN\nAdded comment: i) PMID: 33772059- An Iranian family with RPL (Fam 94947) without fetal autopsy carrying homozygous missense p.1250T>M. The parents were both carriers with a history of cardiac events in the family. This variant has been reported to cause long QT syndrome 3 (LQT3) (#603830) in the heterozygous state. Homozygous mutations in SCN5A in mice cause intrauterine lethality mostly during organogenesis due to heart defects (PMID: 11972032). \r\n\r\nii) PMID: 32421437- de novo SCN5A variants in four cases which all died and three of them died in utero.\r\n\r\niii) PMID: 23571586- 5 intrauterine fetal deaths hosted SCN5A rare nonsynonymous genetic variants (p.T220I, p.R1193Q, involving 2 cases, and p.P2006A, involving 2 cases).\r\n\r\niv) PMID: 15184283- A case of recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome- low level mosaic R1623Q present in mom and cord blood from the third fetus also harbored the mutant allele, suggesting that all 3 cases of late-term fetal distress resulted from germ-line transfer of the LQTS-associated mutation. \nSources: Literature","entity_name":"SCN5A","entity_type":"gene"},{"created":"2025-04-24T12:29:06.260465+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2041","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCSK1 were set to ","entity_name":"PCSK1","entity_type":"gene"},{"created":"2025-04-24T12:28:07.906791+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2040","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCCA as ready","entity_name":"PCCA","entity_type":"gene"},{"created":"2025-04-24T12:28:07.899496+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2040","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcca has been classified as Green List (High Evidence).","entity_name":"PCCA","entity_type":"gene"},{"created":"2025-04-24T12:28:04.869993+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2040","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCCA were changed from Propionicacidemia, 606054 (3) to Propionicacidemia, MIM#606054","entity_name":"PCCA","entity_type":"gene"},{"created":"2025-04-24T12:27:54.673767+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2039","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCCA were set to ","entity_name":"PCCA","entity_type":"gene"},{"created":"2025-04-24T12:27:26.837942+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2038","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAK3 as ready","entity_name":"PAK3","entity_type":"gene"},{"created":"2025-04-24T12:27:26.810675+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2038","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pak3 has been classified as Green List (High Evidence).","entity_name":"PAK3","entity_type":"gene"},{"created":"2025-04-24T12:27:11.083542+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2038","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAK3 were changed from Mental retardation, X-linked 30/47, 300558 (3) to Intellectual developmental disorder, X-linked 30 MIM#300558","entity_name":"PAK3","entity_type":"gene"},{"created":"2025-04-24T12:26:59.220379+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2037","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAK3 were set to ","entity_name":"PAK3","entity_type":"gene"},{"created":"2025-04-24T12:26:10.997235+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"changed review comment from: New papers:\r\ni) PMID: 33772059- An Iranian family with RPL (Fam 90377 with fetal autopsy showing 17 weeks male with Fraser syndrome and Bartsocas-Papas syndrome- syndactyly, dysplastic ears, right kidney agenesis, club foot, flexion contracture of the hip, and atretic external auditory canals)  carrying a homozygous missense variant, p.135T>M.\r\n\r\nii) PMID: 32643034- Four affected fetus from 4 independent families carrying novel homozygous LOF variants (p.His2995Profs*3, c.9780+2T>C, c.8098+2T>A, c.5217+1G>C) All these affected families had history of miscarriages/ intrauterine fetal loss. \nSources: Literature; to: New papers:\r\ni) PMID: 33772059- An Iranian family with RPL (Fam 90377 with fetal autopsy showing 17 weeks male with Fraser syndrome and Bartsocas-Papas syndrome- syndactyly, dysplastic ears, right kidney agenesis, club foot, flexion contracture of the hip, and atretic external auditory canals)  carrying a homozygous missense variant, p.135T>M.\r\n\r\nii) PMID: 32643034- Four affected fetus from 4 independent families carrying novel homozygous LOF variants (p.His2995Profs*3, c.9780+2T>C, c.8098+2T>A, c.5217+1G>C) All these affected families had history of miscarriages/ intrauterine fetal loss due to oligohydramnios, renal agenesis and other congenital anomalies.\r\nSources: Literature","entity_name":"FRAS1","entity_type":"gene"},{"created":"2025-04-24T12:25:22.197328+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: FRAS1 was added\ngene: FRAS1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRAS1 were set to 33772059; 32643034\nPhenotypes for gene: FRAS1 were set to Fraser syndrome 1, MIM# 219000\nReview for gene: FRAS1 was set to GREEN\nAdded comment: New papers:\r\ni) PMID: 33772059- An Iranian family with RPL (Fam 90377 with fetal autopsy showing 17 weeks male with Fraser syndrome and Bartsocas-Papas syndrome- syndactyly, dysplastic ears, right kidney agenesis, club foot, flexion contracture of the hip, and atretic external auditory canals)  carrying a homozygous missense variant, p.135T>M.\r\n\r\nii) PMID: 32643034- Four affected fetus from 4 independent families carrying novel homozygous LOF variants (p.His2995Profs*3, c.9780+2T>C, c.8098+2T>A, c.5217+1G>C) All these affected families had history of miscarriages/ intrauterine fetal loss. \nSources: Literature","entity_name":"FRAS1","entity_type":"gene"},{"created":"2025-04-24T12:25:10.927791+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2036","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAH as ready","entity_name":"PAH","entity_type":"gene"},{"created":"2025-04-24T12:25:10.918087+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2036","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pah has been classified as Green List (High Evidence).","entity_name":"PAH","entity_type":"gene"},{"created":"2025-04-24T12:25:08.391720+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2036","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAH were changed from Phenylketonuria, 261600 (3) to Phenylketonuria, MIM#261600","entity_name":"PAH","entity_type":"gene"},{"created":"2025-04-24T12:24:55.207250+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2035","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAH were set to ","entity_name":"PAH","entity_type":"gene"},{"created":"2025-04-24T12:24:31.378105+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2034","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTUD6B as ready","entity_name":"OTUD6B","entity_type":"gene"},{"created":"2025-04-24T12:24:31.371800+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2034","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otud6b has been classified as Green List (High Evidence).","entity_name":"OTUD6B","entity_type":"gene"},{"created":"2025-04-24T12:24:28.477847+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2034","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTUD6B were changed from Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies,MIM#617452","entity_name":"OTUD6B","entity_type":"gene"},{"created":"2025-04-24T12:24:16.259332+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2033","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OTUD6B were set to ","entity_name":"OTUD6B","entity_type":"gene"},{"created":"2025-04-24T12:24:08.028062+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2032","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: LRSAM1 as ready","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2025-04-24T12:24:08.024979+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2032","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Only single AR family reported, insufficient evidence, downgrade to RED","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2025-04-24T12:24:07.999733+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2032","user_name":"Lilian Downie","item_type":"entity","text":"Gene: lrsam1 has been classified as Green List (High Evidence).","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2025-04-24T12:23:48.755611+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2032","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: LRSAM1 were set to ","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2025-04-24T12:23:47.146891+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2031","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OSGEP as ready","entity_name":"OSGEP","entity_type":"gene"},{"created":"2025-04-24T12:23:47.139791+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2031","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: osgep has been classified as Green List (High Evidence).","entity_name":"OSGEP","entity_type":"gene"},{"created":"2025-04-24T12:23:45.063474+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2031","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OSGEP were changed from Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive to Galloway-Mowat syndrome 3, MIM# 617729","entity_name":"OSGEP","entity_type":"gene"},{"created":"2025-04-24T12:23:31.641912+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2030","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OSGEP were set to ","entity_name":"OSGEP","entity_type":"gene"},{"created":"2025-04-24T12:23:18.065513+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2029","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 28272532; Phenotypes: Galloway-Mowat syndrome 3, MIM# 617729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OSGEP","entity_type":"gene"},{"created":"2025-04-24T12:22:08.041094+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2029","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPA1 as ready","entity_name":"OPA1","entity_type":"gene"},{"created":"2025-04-24T12:22:08.034704+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2029","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa1 has been classified as Green List (High Evidence).","entity_name":"OPA1","entity_type":"gene"},{"created":"2025-04-24T12:21:02.471747+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2029","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPA1 were changed from Behr syndrome, 210000 (3), Autosomal recessive to Behr syndrome, MIM#210000","entity_name":"OPA1","entity_type":"gene"},{"created":"2025-04-24T12:20:47.921986+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2028","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OPA1 were set to ","entity_name":"OPA1","entity_type":"gene"},{"created":"2025-04-24T12:20:29.618481+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2027","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: PUS7 as ready","entity_name":"PUS7","entity_type":"gene"},{"created":"2025-04-24T12:20:29.615564+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2027","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Upgrade to green","entity_name":"PUS7","entity_type":"gene"},{"created":"2025-04-24T12:20:29.592951+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2027","user_name":"Lilian Downie","item_type":"entity","text":"Gene: pus7 has been classified as Red List (Low Evidence).","entity_name":"PUS7","entity_type":"gene"},{"created":"2025-04-24T12:20:25.223686+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2027","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUP107 as ready","entity_name":"NUP107","entity_type":"gene"},{"created":"2025-04-24T12:20:25.217474+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2027","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nup107 has been classified as Green List (High Evidence).","entity_name":"NUP107","entity_type":"gene"},{"created":"2025-04-24T12:20:21.815799+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2027","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUP107 were changed from Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive to Galloway-Mowat syndrome 7, MIM#618348; Nephrotic syndrome, type 11, MIM#616730","entity_name":"NUP107","entity_type":"gene"},{"created":"2025-04-24T12:20:10.168321+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2026","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NUP107 were set to ","entity_name":"NUP107","entity_type":"gene"},{"created":"2025-04-24T12:19:45.998230+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2025","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUBPL as ready","entity_name":"NUBPL","entity_type":"gene"},{"created":"2025-04-24T12:19:45.990957+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2025","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nubpl has been classified as Green List (High Evidence).","entity_name":"NUBPL","entity_type":"gene"},{"created":"2025-04-24T12:19:43.577759+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2025","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUBPL were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 21, MIM#618242","entity_name":"NUBPL","entity_type":"gene"},{"created":"2025-04-24T12:19:27.464118+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2024","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NUBPL were set to ","entity_name":"NUBPL","entity_type":"gene"},{"created":"2025-04-24T12:19:04.855244+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2023","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR0B1 as ready","entity_name":"NR0B1","entity_type":"gene"},{"created":"2025-04-24T12:19:04.845006+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2023","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr0b1 has been classified as Green List (High Evidence).","entity_name":"NR0B1","entity_type":"gene"},{"created":"2025-04-24T12:19:01.339645+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2023","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR0B1 were changed from 46XY sex reversal 2, dosage-sensitive, 300018 (3) to Adrenal hypoplasia, congenital, MIM#300200","entity_name":"NR0B1","entity_type":"gene"},{"created":"2025-04-24T12:18:50.905680+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2022","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR0B1 were set to ","entity_name":"NR0B1","entity_type":"gene"},{"created":"2025-04-24T12:18:07.381591+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2021","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFV2 as ready","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2025-04-24T12:18:07.375399+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2021","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufv2 has been classified as Green List (High Evidence).","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2025-04-24T12:18:04.381922+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2021","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFV2 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 7, MIM#618229, MONDO:0044970","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2025-04-24T12:17:54.359781+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2020","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFV2 were set to ","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2025-04-24T12:17:30.313652+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2019","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFS4 as ready","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2025-04-24T12:17:30.307101+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2019","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufs4 has been classified as Green List (High Evidence).","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2025-04-24T12:17:27.798925+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2019","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFS4 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 1, MIM#252010","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2025-04-24T12:17:20.661009+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2018","user_name":"Lilian Downie","item_type":"entity","text":"Tag for review tag was added to gene: NCF1.","entity_name":"NCF1","entity_type":"gene"},{"created":"2025-04-24T12:16:56.495243+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2018","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDP as ready","entity_name":"NDP","entity_type":"gene"},{"created":"2025-04-24T12:16:56.487558+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2018","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndp has been classified as Green List (High Evidence).","entity_name":"NDP","entity_type":"gene"},{"created":"2025-04-24T12:16:53.113172+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2018","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDP were changed from Norrie disease, 310600 (3) to Norrie disease, MIM#310600","entity_name":"NDP","entity_type":"gene"},{"created":"2025-04-24T12:16:40.171418+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2017","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDP were set to ","entity_name":"NDP","entity_type":"gene"},{"created":"2025-04-24T12:16:19.509743+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2016","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDE1 as ready","entity_name":"NDE1","entity_type":"gene"},{"created":"2025-04-24T12:16:19.502998+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2016","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nde1 has been classified as Green List (High Evidence).","entity_name":"NDE1","entity_type":"gene"},{"created":"2025-04-24T12:16:16.894718+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2016","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), 614019 (3) to Lissencephaly 4 (with microcephaly), MIM#614019","entity_name":"NDE1","entity_type":"gene"},{"created":"2025-04-24T12:16:07.091028+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2015","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDE1 were set to ","entity_name":"NDE1","entity_type":"gene"}]}