{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=259","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=257","results":[{"created":"2025-04-24T14:57:57.241189+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc12 has been classified as Red List (Low Evidence).","entity_name":"TRAPPC12","entity_type":"gene"},{"created":"2025-04-24T14:57:28.199598+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBC1D20 as ready","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2025-04-24T14:57:28.196221+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Upgrade to Green in V2.","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2025-04-24T14:57:28.171220+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d20 has been classified as Red List (Low Evidence).","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2025-04-24T14:57:16.793367+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: TBC1D20.","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2025-04-24T14:56:45.234755+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPN1LW as ready","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2025-04-24T14:56:45.218748+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opn1lw has been classified as Red List (Low Evidence).","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2025-04-24T14:56:42.093289+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OPN1LW were set to ","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2025-04-24T14:54:22.906122+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2082","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC39A4 as ready","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2025-04-24T14:54:22.895664+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2082","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc39a4 has been classified as Green List (High Evidence).","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2025-04-24T14:54:20.566744+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2082","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica, 201100 (3) to Acrodermatitis enteropathica, MIM# 201100","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2025-04-24T14:54:11.110136+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2081","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC39A4 were set to ","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2025-04-24T14:53:59.585895+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2080","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19370757; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2025-04-24T14:52:50.946148+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2080","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC30A10 as ready","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2025-04-24T14:52:50.939821+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2080","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc30a10 has been classified as Green List (High Evidence).","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2025-04-24T14:52:48.448267+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2080","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC30A10 were changed from Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3) to Hypermanganesemia with dystonia 1, MIM#613280","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2025-04-24T14:52:38.114372+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2079","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC30A10 were set to ","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2025-04-24T14:52:08.546090+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2078","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC12A5 as ready","entity_name":"SLC12A5","entity_type":"gene"},{"created":"2025-04-24T14:52:08.539693+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2078","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc12a5 has been classified as Green List (High Evidence).","entity_name":"SLC12A5","entity_type":"gene"},{"created":"2025-04-24T14:52:05.917475+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2078","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC12A5 were changed from Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive to Developmental and epileptic encephalopathy 34 MIM#616645","entity_name":"SLC12A5","entity_type":"gene"},{"created":"2025-04-24T14:51:55.825081+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2077","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC12A5 were set to ","entity_name":"SLC12A5","entity_type":"gene"},{"created":"2025-04-24T14:51:26.817054+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2076","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEC23B as ready","entity_name":"SEC23B","entity_type":"gene"},{"created":"2025-04-24T14:51:26.801100+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2076","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec23b has been classified as Green List (High Evidence).","entity_name":"SEC23B","entity_type":"gene"},{"created":"2025-04-24T14:51:24.433193+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2076","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II, 224100 (3) to Dyserythropoietic anaemia, congenital, type II MIM#224100","entity_name":"SEC23B","entity_type":"gene"},{"created":"2025-04-24T14:51:11.994738+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2075","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC23B were set to ","entity_name":"SEC23B","entity_type":"gene"},{"created":"2025-04-24T14:50:48.894179+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2074","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCNN1B as ready","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2025-04-24T14:50:48.887273+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2074","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1b has been classified as Green List (High Evidence).","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2025-04-24T14:50:46.578796+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2074","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCNN1B were changed from Pseudohypoaldosteronism, type I, 264350 (3) to Pseudohypoaldosteronism, type IB2, autosomal recessive, MIM#620125","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2025-04-24T14:50:35.716787+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2073","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCNN1B were set to ","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2025-04-24T14:50:06.030422+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2072","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN9A as ready","entity_name":"SCN9A","entity_type":"gene"},{"created":"2025-04-24T14:50:06.023274+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2072","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn9a has been classified as Green List (High Evidence).","entity_name":"SCN9A","entity_type":"gene"},{"created":"2025-04-24T14:50:03.747878+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2072","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN9A were changed from Insensitivity to pain, congenital, 243000 (3) to Insensitivity to pain, congenital, MIM# 243000","entity_name":"SCN9A","entity_type":"gene"},{"created":"2025-04-24T14:49:53.081141+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2071","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN9A were set to ","entity_name":"SCN9A","entity_type":"gene"},{"created":"2025-04-24T14:49:18.154368+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2070","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SAMHD1 as ready","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2025-04-24T14:49:18.144712+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2070","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samhd1 has been classified as Green List (High Evidence).","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2025-04-24T14:49:16.035825+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2070","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SAMHD1 were changed from Aicardi-Goutieres syndrome 5, 612952 (3) to Aicardi-Goutieres syndrome 5, MIM# 612952","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2025-04-24T14:49:02.128755+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2069","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2025-04-24T14:47:56.253229+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2069","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRM2B as ready","entity_name":"RRM2B","entity_type":"gene"},{"created":"2025-04-24T14:47:56.228839+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2069","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rrm2b has been classified as Green List (High Evidence).","entity_name":"RRM2B","entity_type":"gene"},{"created":"2025-04-24T14:47:53.976702+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2069","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3) to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075","entity_name":"RRM2B","entity_type":"gene"},{"created":"2025-04-24T14:47:39.229288+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2068","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RRM2B","entity_type":"gene"},{"created":"2025-04-24T14:46:35.320714+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: RNF212B: Changed phenotypes: Female and male infertility with recurrent medically assisted reproduction (MAR) failures","entity_name":"RNF212B","entity_type":"gene"},{"created":"2025-04-24T14:46:10.264287+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: RNF212B was added\ngene: RNF212B was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: RNF212B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF212B were set to 40259604; 37124137\nPhenotypes for gene: RNF212B were set to Female and male infertility with recurrent medically assisted reproduction (MAR) failures.\nReview for gene: RNF212B was set to AMBER\nAdded comment: Based on available evidence so far, it seems to be affecting Ashkenazi\r\nJewish population specifically:\r\n\r\ni) PMID: 40259604- homozygous stop gained variant  p.Arg150Ter in a young Ashkenazi Jewish female with a history of RPL underwent five in vitro fertilization cycles with nearly complete arrest of blastocyst development and ubiquitous aneuploidy of maternal origin in arrested embryos. \r\n\r\nii) PMID: 37124137- homozygous nonsense variant R150X in two brothers of Turkish Jewish descent and one unrelated Ashkenazi Jewish male with oligoasthenotheratozoospermia and infertility who had undergone numerous fertility treatments and failed IVF cycles. Single-cell RNA sequencing data analysis demonstrated expression of the pathogenic variant during various steps of spermatogenesis and consequent severe genomic instability in their sperm and embryos. \nSources: Literature","entity_name":"RNF212B","entity_type":"gene"},{"created":"2025-04-24T14:31:41.433823+10:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2025-04-24T14:10:43.288638+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: PDCD2 was added\ngene: PDCD2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PDCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCD2 were set to 40208938\nPhenotypes for gene: PDCD2 were set to Non-immune hydrops fetalis, MONDO:0009369; Recurrent pregnancy loss susceptibility, MONDO:0000144\nReview for gene: PDCD2 was set to AMBER\nAdded comment: PMID: 40208938-  Novel biallelic PDCD2 variants associated with hydrops fetalis and early pregnancy loss in two affected families. Family 1 with RPL had three fetuses with NIHF who were all homozygous for p.(Pro28Ser) in PDCD2, while Family 2 had p.(Pro28Ser) in trans with p.(Arg34Pro) in two fetuses with NIHF. Family 2 was additionally notable for having a healthy child who was homozygous for the reference allele, consistent with appropriate disease segregation with the PDCD2 variants. Functional studies using primary fetal fibroblasts and human cell lines for both variants showed reduced PDCD2 mRNA level in affected patients' fibroblasts, reduced cellular accumulation of mutant proteins with impaired ability to associate with the 40S subunit ribosomal protein uS5, and further depletion of PDCD2 in fibroblast cells severely impacted ribosome biogenesis. It is notable that formation of the PDCD2-uS5 complex was not completely abolished by the patient variants and that rRNA processing was only partially impaired, as indicated by levels of 40S pre-rRNAs. We thus suspect that the PDCD2 pathogenic variants p.(Pro28Ser) and p.(Arg34Pro) are hypomorphic alleles, with a low level of residual function allowing for cellular differentiation and growth to a certain extent. \nSources: Literature","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-04-24T13:45:30.131168+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: MUSK was added\ngene: MUSK was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MUSK were set to 25612909; 25537362; 31750350; 38566418\nPhenotypes for gene: MUSK were set to Fetal akinesia deformation sequence 1, MIM# 208150\nReview for gene: MUSK was set to AMBER\nAdded comment: i) PMID: 25612909- First to report homozygous frameshift variant p.Thr14Asnfs*9 in all affected fetuses with FADS in an affected family which also has two miscarriages. This variant leads to a complete loss of protein expression. Of note, incomplete loss of MuSK function will cause a CMS phenotype, whereas complete loss of function is lethal. \r\n\r\nii)  PMID: 25537362- Homozygous missense variant p.Ile575Thr in the intracellular domain of MUSK in 11 out of 14 affected fetuses with lethal FADS (only 11 have DNA available) with a common ancestry from 11 families, suggesting founder effect.\r\n\r\niii) PMID: 31750350- Compound heterozygous variants in an affected fetus with lethal FADS (the mother also had previous abortion due to similarly affected fetus)\r\n\r\niv) Ding et al, 2020 (DOI: 10.22541/au.160097884.45196854)-novel compound heterozygous in a FADS affected fetus (mother also had two previous pregnancies with similarly affected fetuses, terminated)\r\n\r\nv) PMID: 38566418- Reviewed previously reported MUSK pathogenic variants (46 patients in total with 29 unique disease-causing variants) appeared in four of the seven MuSK domains, including the Ig1, Frz-like, juxtamembrane, and kinase domains. Homozygous loss-of-function variants resulted in the most severe phenotype (FADS).\r\n\r\nNote: Classified as amber since most of the reported cases were TOP rather than IUFD. \nSources: Literature","entity_name":"MUSK","entity_type":"gene"},{"created":"2025-04-24T13:37:02.430648+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: Spontaneous abortion reported before.\r\n\r\nNew papers:\r\ni) PMID: 23037934- A novel homozygous p.R254C variant in a family with  recurrent fetal loss due to NIHF.\r\n\r\nii) PMID: 18252226- Family CHRNA1-F1 had a family history of spontaneous abortions (IV-2 within the family) and two of the affected fetus (IV-1  stillbirth and IV-3 TOP) carried homozygous R234L. \nSources: Literature; to: Spontaneous abortion reported before.\r\n\r\nOther papers:\r\ni) PMID: 23037934- A novel homozygous p.R254C variant in a family with recurrent fetal loss due to NIHF.\r\n\r\nii) PMID: 18252226- Family CHRNA1-F1 had a family history of spontaneous abortions (IV-2 within the family) and two of the affected fetus (IV-1  stillbirth and IV-3 TOP) carried homozygous R234L. \r\nSources: Literature","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2025-04-24T13:36:29.942014+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: CHRNA1 was added\ngene: CHRNA1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRNA1 were set to 23037934; 18252226\nPhenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, MIM# 253290\nAdded comment: Spontaneous abortion reported before.\r\n\r\nNew papers:\r\ni) PMID: 23037934- A novel homozygous p.R254C variant in a family with  recurrent fetal loss due to NIHF.\r\n\r\nii) PMID: 18252226- Family CHRNA1-F1 had a family history of spontaneous abortions (IV-2 within the family) and two of the affected fetus (IV-1  stillbirth and IV-3 TOP) carried homozygous R234L. \nSources: Literature","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2025-04-24T13:26:42.125192+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: i) PMID: 36977548- Reported 10 cases from six unrelated families showing different TTN combinations and four of those cases (F3-iii.1, F6-II.1, F6.ii.3, F6.ii.4) died in utero between 2nd-3rd trimester. \r\n- Quoted that \"Probably, we are still missing the most severe end spectrum of titinopathies, as we are used to studying fetuses from late miscarriages or dead infants, while only few investigations are usually performed on early miscarriages. Moreover, prenatal tests often do not include TTN sequencing.\"\r\n\r\nii)PMID: 38148006- com het p.Arg33743Ter and p.Gln34752Ter in a fetus with with hydrops fetalis and arthrogryposis multiplex congenita, which died in utero in 3rd trimester.\r\n\r\niii) PMID: 29575618- homozygous c.36122delC (p. P12041Lfs*20) variant in 8 members of a consanguineous family affected with a lethal congenital contracture syndrome and among those 8, 3 were IUFD. \nSources: Literature; to: i) PMID: 36977548- Reported 10 cases from six unrelated families showing different TTN combinations and four of those cases (F3-iii.1, F6-II.1, F6.ii.3, F6.ii.4) died in utero between 2nd-3rd trimester. \r\n- Quoted that \"Probably, we are still missing the most severe end spectrum of titinopathies, as we are used to studying fetuses from late miscarriages or dead infants, while only few investigations are usually performed on early miscarriages. Moreover, prenatal tests often do not include TTN sequencing.\"\r\n\r\nii)PMID: 38148006- com het p.Arg33743Ter and p.Gln34752Ter in a fetus with with hydrops fetalis and arthrogryposis multiplex congenita, which died in utero in 3rd trimester.\r\n\r\niii) PMID: 29575618- homozygous c.36122delC (p. P12041Lfs*20) variant in 8 members of a consanguineous family affected with a lethal congenital contracture syndrome and among those 8, three members were IUFD. \r\nSources: Literature","entity_name":"TTN","entity_type":"gene"},{"created":"2025-04-24T13:26:23.282635+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: TTN was added\ngene: TTN was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTN were set to 36977548; 38148006; 29575618\nPhenotypes for gene: TTN were set to Lethal congenital contracture syndrome, MONDO:0017436\nReview for gene: TTN was set to GREEN\nAdded comment: i) PMID: 36977548- Reported 10 cases from six unrelated families showing different TTN combinations and four of those cases (F3-iii.1, F6-II.1, F6.ii.3, F6.ii.4) died in utero between 2nd-3rd trimester. \r\n- Quoted that \"Probably, we are still missing the most severe end spectrum of titinopathies, as we are used to studying fetuses from late miscarriages or dead infants, while only few investigations are usually performed on early miscarriages. Moreover, prenatal tests often do not include TTN sequencing.\"\r\n\r\nii)PMID: 38148006- com het p.Arg33743Ter and p.Gln34752Ter in a fetus with with hydrops fetalis and arthrogryposis multiplex congenita, which died in utero in 3rd trimester.\r\n\r\niii) PMID: 29575618- homozygous c.36122delC (p. P12041Lfs*20) variant in 8 members of a consanguineous family affected with a lethal congenital contracture syndrome and among those 8, 3 were IUFD. \nSources: Literature","entity_name":"TTN","entity_type":"gene"},{"created":"2025-04-24T13:20:57.914884+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: PMID: 29230157- In a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum, compound heterozygous missense variants (p.H411D and p.M124V) identified in two affected male fetuses with partial agenesis of the corpus callosum. Concluded that the compound heterozygous STIL mutations found by WES in the affected fetuses cause the severe neurodevelopmental defects observed by fetal ultrasound and MRI, possibly also causing the recurrent miscarriages for the couple. The 5 miscarriages occurring in the family may suggest a causal relationship between the STIL mutations and embryonic lethality in humans.\r\n\r\nii)  PMID: 33772059- A homozygous missense variant p.338H>Y in case 93272, an Iranian family with 4 miscarriages. Fetal autopsy not available for this family. PMID: 10385121 disrupted STIL in mice and the homozygous mutant caused death with neural tube defects, holoprosencephaly and left–right development abnormalities during embryonic development.\r\nSources: Literature; to: i) PMID: 29230157- In a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum, compound heterozygous missense variants (p.H411D and p.M124V) identified in two affected male fetuses with partial agenesis of the corpus callosum. Functional study showed impairment of the normal regulation of centriole lengthening. Concluded that the compound heterozygous STIL mutations found by WES in the affected fetuses cause the severe neurodevelopmental defects observed by fetal ultrasound and MRI, possibly also causing the recurrent miscarriages for the couple. The 5 miscarriages occurring in the family may suggest a causal relationship between the STIL mutations and embryonic lethality in humans.\r\n\r\nii)  PMID: 33772059- A homozygous missense variant p.338H>Y in case 93272, an Iranian family with 4 miscarriages. Fetal autopsy not available for this family. PMID: 10385121 disrupted STIL in mice and the homozygous mutant caused death with neural tube defects, holoprosencephaly and left–right development abnormalities during embryonic development.\r\nSources: Literature","entity_name":"STIL","entity_type":"gene"},{"created":"2025-04-24T13:16:49.587181+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2068","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROR2 as ready","entity_name":"ROR2","entity_type":"gene"},{"created":"2025-04-24T13:16:49.580877+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2068","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ror2 has been classified as Green List (High Evidence).","entity_name":"ROR2","entity_type":"gene"},{"created":"2025-04-24T13:16:46.136367+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2068","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROR2 were changed from Robinow syndrome, autosomal recessive, 268310 (3) to Robinow syndrome, autosomal recessive MIM# 268310","entity_name":"ROR2","entity_type":"gene"},{"created":"2025-04-24T13:16:27.677564+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2067","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal recessive MIM# 268310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROR2","entity_type":"gene"},{"created":"2025-04-24T13:15:54.422956+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: PMID: 29230157- In a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum, compound heterozygous missense variants (p.H411D and p.M124V) identified in two affected male fetuses with partial agenesis of the corpus callosum. Concluded that the compound heterozygous STIL mutations found by WES in the affected fetuses cause the severe neurodevelopmental defects observed by fetal ultrasound and MRI, possibly also causing the recurrent miscarriages for the couple. The 5 miscarriages occurring in the family may suggest a causal relationship between the STIL mutations and embryonic lethality in humans.\r\n\r\nii)  PMID: 33772059- A homozygous missense variant p.338H>Y in case 93272, an Iranian family with 4 miscarriages. Fetal autopsy not available for this family. PMID: 10385121 disrupted STIL in mice and the homozygous mutant caused death with neural tube defects, holoprosencephaly and left–right development abnormalities during embryonic development \nSources: Literature; to: PMID: 29230157- In a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum, compound heterozygous missense variants (p.H411D and p.M124V) identified in two affected male fetuses with partial agenesis of the corpus callosum. Concluded that the compound heterozygous STIL mutations found by WES in the affected fetuses cause the severe neurodevelopmental defects observed by fetal ultrasound and MRI, possibly also causing the recurrent miscarriages for the couple. The 5 miscarriages occurring in the family may suggest a causal relationship between the STIL mutations and embryonic lethality in humans.\r\n\r\nii)  PMID: 33772059- A homozygous missense variant p.338H>Y in case 93272, an Iranian family with 4 miscarriages. Fetal autopsy not available for this family. PMID: 10385121 disrupted STIL in mice and the homozygous mutant caused death with neural tube defects, holoprosencephaly and left–right development abnormalities during embryonic development.\r\nSources: Literature","entity_name":"STIL","entity_type":"gene"},{"created":"2025-04-24T13:15:38.967085+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: STIL was added\ngene: STIL was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STIL were set to 29230157; 33772059\nPhenotypes for gene: STIL were set to Recurrent pregnancy loss susceptibility, MONDO:0000144; Primary microcephaly 7, autosomal recessive, MIM# 612703\nReview for gene: STIL was set to AMBER\nAdded comment: PMID: 29230157- In a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum, compound heterozygous missense variants (p.H411D and p.M124V) identified in two affected male fetuses with partial agenesis of the corpus callosum. Concluded that the compound heterozygous STIL mutations found by WES in the affected fetuses cause the severe neurodevelopmental defects observed by fetal ultrasound and MRI, possibly also causing the recurrent miscarriages for the couple. The 5 miscarriages occurring in the family may suggest a causal relationship between the STIL mutations and embryonic lethality in humans.\r\n\r\nii)  PMID: 33772059- A homozygous missense variant p.338H>Y in case 93272, an Iranian family with 4 miscarriages. Fetal autopsy not available for this family. PMID: 10385121 disrupted STIL in mice and the homozygous mutant caused death with neural tube defects, holoprosencephaly and left–right development abnormalities during embryonic development \nSources: Literature","entity_name":"STIL","entity_type":"gene"},{"created":"2025-04-24T13:13:05.891690+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2067","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNASET2 as ready","entity_name":"RNASET2","entity_type":"gene"},{"created":"2025-04-24T13:13:05.885550+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2067","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaset2 has been classified as Green List (High Evidence).","entity_name":"RNASET2","entity_type":"gene"},{"created":"2025-04-24T13:13:02.342468+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2067","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNASET2 were changed from Leukoencephalopathy, cystic, without megalencephaly, 612951 (3) to Leukoencephalopathy, cystic, without megalencephaly MIM#612951","entity_name":"RNASET2","entity_type":"gene"},{"created":"2025-04-24T13:12:50.336279+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2066","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNASET2 were set to ","entity_name":"RNASET2","entity_type":"gene"},{"created":"2025-04-24T13:12:12.333220+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2065","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNASEH2A as ready","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2025-04-24T13:12:12.326918+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2065","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2a has been classified as Green List (High Evidence).","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2025-04-24T13:12:09.563708+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2065","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNASEH2A were changed from Aicardi-Goutieres syndrome 4, 610333 (3) to Aicardi-Goutieres syndrome 4 MIM#610333; RNASEH2A-related type 1 interferonopathy MONDO:0700259","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2025-04-24T13:11:57.554818+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2064","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNASEH2A were set to ","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2025-04-24T13:11:11.487187+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2063","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFX6 as ready","entity_name":"RFX6","entity_type":"gene"},{"created":"2025-04-24T13:11:11.480167+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2063","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfx6 has been classified as Green List (High Evidence).","entity_name":"RFX6","entity_type":"gene"},{"created":"2025-04-24T13:11:09.073462+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2063","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RFX6 were changed from Mitchell-Riley syndrome, 615710 (3) to Mitchell-Riley syndrome, MIM# 615710","entity_name":"RFX6","entity_type":"gene"},{"created":"2025-04-24T13:10:53.580815+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2062","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM# 615710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RFX6","entity_type":"gene"},{"created":"2025-04-24T13:09:09.981442+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2062","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFT1 as ready","entity_name":"RFT1","entity_type":"gene"},{"created":"2025-04-24T13:09:09.971273+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2062","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rft1 has been classified as Green List (High Evidence).","entity_name":"RFT1","entity_type":"gene"},{"created":"2025-04-24T13:09:04.701406+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2062","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RFT1 were changed from Congenital disorder of glycosylation, type In, 612015 (3) to Congenital disorder of glycosylation, type In, MIM# 612015","entity_name":"RFT1","entity_type":"gene"},{"created":"2025-04-24T13:08:55.498368+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2061","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RFT1 were set to ","entity_name":"RFT1","entity_type":"gene"},{"created":"2025-04-24T13:08:42.150317+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2060","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RFT1","entity_type":"gene"},{"created":"2025-04-24T13:07:38.897210+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2060","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RD3 as ready","entity_name":"RD3","entity_type":"gene"},{"created":"2025-04-24T13:07:38.844321+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2060","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rd3 has been classified as Green List (High Evidence).","entity_name":"RD3","entity_type":"gene"},{"created":"2025-04-24T13:07:26.179820+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2060","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 12, MIM#610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RD3","entity_type":"gene"},{"created":"2025-04-24T13:04:59.763735+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2060","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: RARB.","entity_name":"RARB","entity_type":"gene"},{"created":"2025-04-24T13:03:33.835965+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2060","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAG1 as ready","entity_name":"RAG1","entity_type":"gene"},{"created":"2025-04-24T13:03:33.825593+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2060","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rag1 has been classified as Green List (High Evidence).","entity_name":"RAG1","entity_type":"gene"},{"created":"2025-04-24T13:03:29.518339+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2060","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAG1 were changed from Severe combined immunodeficiency, B cell-negative, 601457 (3) to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457","entity_name":"RAG1","entity_type":"gene"},{"created":"2025-04-24T13:03:14.069208+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2059","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889, Combined cellular and humoral immune defects with granulomas MIM# 233650, Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAG1","entity_type":"gene"},{"created":"2025-04-24T13:00:37.651986+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: TIMP2 was added\ngene: TIMP2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TIMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TIMP2 were set to 20847186; 34756330\nPhenotypes for gene: TIMP2 were set to Recurrent pregnancy loss susceptibility, MONDO:0000144\nReview for gene: TIMP2 was set to AMBER\nAdded comment: i) PMID: 20847186- In family 6, TIMP2 partial duplication (involves Ex1-2) in mother and 4 out of 5 miscarriages. They have not yet been associated with RPL in humans, however, overexpression of TIMP2 was detected in a mouse model of RPL (Dixon et al., 2006). The TIMP2 disruption in miscarriages in Family 6 may have affected the placental development, but the possibility remains that maternal disruption of TIMP2 may contribute to RPL by impairing the remodeling of the endometrium in early pregnancy. Functional study was performed by PMID: 25674159, which showed reduced RNA and protein expression in chorionic villi cultures from miscarriages with the CNV. \r\n\r\nii) PMID: 34756330- de novo damaging heterozygous missense TIMP2 variant, c.[553G>A]; p.[Gly185Arg] in an eight-week euploid embryonic loss. The MMP2/TIMP2 complex is involved in several gestational processes including implantation and placentation.\r\n\r\niii) PMID: 11912288- The disruption of the TIMP2 gene was considered to be relevant for recurrent miscarriage due to its critical role in modulating invasion of the trophoblast into maternal endometrium and in vascular remodeling and angiogenesis of maternal and placenta tissues in the first trimester. \nSources: Literature","entity_name":"TIMP2","entity_type":"gene"},{"created":"2025-04-24T13:00:13.142098+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2059","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PYCR1 as ready","entity_name":"PYCR1","entity_type":"gene"},{"created":"2025-04-24T13:00:13.130779+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2059","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pycr1 has been classified as Green List (High Evidence).","entity_name":"PYCR1","entity_type":"gene"},{"created":"2025-04-24T13:00:10.407309+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2059","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIB, 612940 (3) to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438","entity_name":"PYCR1","entity_type":"gene"},{"created":"2025-04-24T12:59:55.773820+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2058","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB MIM#612940, Cutis laxa, autosomal recessive, type IIIB MIM#614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PYCR1","entity_type":"gene"},{"created":"2025-04-24T12:58:23.417998+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2058","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSMB8 as ready","entity_name":"PSMB8","entity_type":"gene"},{"created":"2025-04-24T12:58:23.411542+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2058","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmb8 has been classified as Green List (High Evidence).","entity_name":"PSMB8","entity_type":"gene"},{"created":"2025-04-24T12:58:21.077824+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2058","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSMB8 were changed from Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3) to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698","entity_name":"PSMB8","entity_type":"gene"},{"created":"2025-04-24T12:58:10.241736+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2057","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSMB8 were set to ","entity_name":"PSMB8","entity_type":"gene"},{"created":"2025-04-24T12:57:52.925500+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2056","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040, MONDO:0054698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PSMB8","entity_type":"gene"},{"created":"2025-04-24T12:56:27.667197+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2056","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROS1 as ready","entity_name":"PROS1","entity_type":"gene"},{"created":"2025-04-24T12:56:27.660755+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2056","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pros1 has been classified as Green List (High Evidence).","entity_name":"PROS1","entity_type":"gene"},{"created":"2025-04-24T12:56:25.229180+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2056","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PROS1 were changed from Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3) to Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514","entity_name":"PROS1","entity_type":"gene"},{"created":"2025-04-24T12:56:09.134292+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2055","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PROS1","entity_type":"gene"},{"created":"2025-04-24T12:54:29.805517+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2055","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPIB as ready","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-04-24T12:54:29.780367+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2055","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppib has been classified as Green List (High Evidence).","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-04-24T12:54:21.453041+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2055","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPIB were changed from Osteogenesis imperfecta, type IX, #259440 to Osteogenesis imperfecta, type IX MIM#259440","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-04-24T12:54:11.264490+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2054","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPIB were set to ","entity_name":"PPIB","entity_type":"gene"}]}