{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=261","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=259","results":[{"created":"2025-04-24T12:15:45.787562+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2014","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NCF2 as ready","entity_name":"NCF2","entity_type":"gene"},{"created":"2025-04-24T12:15:45.780601+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2014","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncf2 has been classified as Green List (High Evidence).","entity_name":"NCF2","entity_type":"gene"},{"created":"2025-04-24T12:15:42.847114+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2014","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NCF2 were changed from Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710","entity_name":"NCF2","entity_type":"gene"},{"created":"2025-04-24T12:15:30.672906+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2013","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NCF2 were set to ","entity_name":"NCF2","entity_type":"gene"},{"created":"2025-04-24T12:15:03.711221+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2012","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAGA as ready","entity_name":"NAGA","entity_type":"gene"},{"created":"2025-04-24T12:15:03.704987+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2012","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naga has been classified as Green List (High Evidence).","entity_name":"NAGA","entity_type":"gene"},{"created":"2025-04-24T12:15:01.428930+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2012","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAGA were changed from Schindler disease, type I, 609241 (3) to Schindler disease, type I MIM#609241; Schindler disease, type III MIM#609241","entity_name":"NAGA","entity_type":"gene"},{"created":"2025-04-24T12:14:43.882914+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2011","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAGA were set to ","entity_name":"NAGA","entity_type":"gene"},{"created":"2025-04-24T12:14:27.426949+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2010","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: PDE6B as ready","entity_name":"PDE6B","entity_type":"gene"},{"created":"2025-04-24T12:14:27.420944+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2010","user_name":"Lilian Downie","item_type":"entity","text":"Gene: pde6b has been classified as Red List (Low Evidence).","entity_name":"PDE6B","entity_type":"gene"},{"created":"2025-04-24T12:14:20.034011+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2010","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYD88 as ready","entity_name":"MYD88","entity_type":"gene"},{"created":"2025-04-24T12:14:20.023552+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2010","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myd88 has been classified as Green List (High Evidence).","entity_name":"MYD88","entity_type":"gene"},{"created":"2025-04-24T12:14:18.581057+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2010","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: PDE6B were set to ","entity_name":"PDE6B","entity_type":"gene"},{"created":"2025-04-24T12:14:17.317927+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2009","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYD88 were changed from Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3) to Immunodeficiency 68, MIM# 612260","entity_name":"MYD88","entity_type":"gene"},{"created":"2025-04-24T12:14:05.248047+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2008","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYD88 were set to ","entity_name":"MYD88","entity_type":"gene"},{"created":"2025-04-24T12:13:44.464994+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2007","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUSK as ready","entity_name":"MUSK","entity_type":"gene"},{"created":"2025-04-24T12:13:44.454568+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2007","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: musk has been classified as Green List (High Evidence).","entity_name":"MUSK","entity_type":"gene"},{"created":"2025-04-24T12:13:41.195608+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2007","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) to Fetal akinesia deformation sequence 1 MIM#208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325","entity_name":"MUSK","entity_type":"gene"},{"created":"2025-04-24T12:13:29.942334+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2006","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MUSK were set to ","entity_name":"MUSK","entity_type":"gene"},{"created":"2025-04-24T12:09:29.692883+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2005","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: GBA as ready","entity_name":"GBA","entity_type":"gene"},{"created":"2025-04-24T12:09:29.687937+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2005","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Consider upgrading to green as most common variant detectable and suitable disease for inclusion.","entity_name":"GBA","entity_type":"gene"},{"created":"2025-04-24T12:09:29.643984+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2005","user_name":"Lilian Downie","item_type":"entity","text":"Gene: gba has been classified as Amber List (Moderate Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2025-04-24T12:09:11.398278+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: PIEZO1 was added\ngene: PIEZO1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIEZO1 were set to 33772059; 30244526; 26333996\nPhenotypes for gene: PIEZO1 were set to Lymphatic malformation 6, MIM# 616843\nReview for gene: PIEZO1 was set to GREEN\nAdded comment: i) PMID: 33772059- Two unrelated Iranian families with RPL carrying different biallelic variants (i. Fam 82169 with fetal autopsy showing generalized lymphatic dysplasia of Fotiou with non-immune fetal hydrops carry homozygous LOF c.30_31delAC, ii) fam 95136 without fetal autopsy carrying compound heterozygous p.2195S>L and p.922G>W).\r\n\r\nii) PMID: 30244526- Compound heterozygous variants p.Trp1069* and p.Lys2070Gln in a case of a woman with recurrent pregnancies affected by NIHF and had three fetal demises because of severe lymphatic dysplasia.\r\n\r\niii) PMID: 26333996- In a recent review of 10 patients within 6 families, 7 of the probands were diagnosed with NIHF, including 2 died in utero, carrying biallelic variants. \nSources: Literature","entity_name":"PIEZO1","entity_type":"gene"},{"created":"2025-04-24T12:05:24.786626+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2005","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CHMP1A as ready","entity_name":"CHMP1A","entity_type":"gene"},{"created":"2025-04-24T12:05:24.783946+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2005","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Inclusion, green on PanelApp and severe childhood disease","entity_name":"CHMP1A","entity_type":"gene"},{"created":"2025-04-24T12:05:24.754495+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2005","user_name":"Lilian Downie","item_type":"entity","text":"Gene: chmp1a has been removed from the panel.","entity_name":"CHMP1A","entity_type":"gene"},{"created":"2025-04-24T11:55:37.421019+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: BTG4 was added\ngene: BTG4 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: BTG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BTG4 were set to 32502391; 34647228\nPhenotypes for gene: BTG4 were set to Oocyte/zygote/embryo maturation arrest 8, MIM# 619009\nReview for gene: BTG4 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 32502391, 34647228- >3 unrelated infertile women due to failure of the fertilized ovum to undergo zygotic cleavage with different biallelic variants. Functional analysis demonstrated LOF, such as reduced mutant protein expression and disruption in the process of maternal mRNA decay, and loss of protein-protein interaction.\r\n\r\nNew paper:\r\ni) PMID: 36471203- A novel homozygous truncating variant (p.V195Sfs) in a a female patient with primary infertility and recurrent failure of IVF with zygotic cleavage failure. Co-immunoprecipitation in 293 T cells showed that the mutation abolished the interaction between BTG4 and PABPN1L. \nSources: Literature","entity_name":"BTG4","entity_type":"gene"},{"created":"2025-04-24T11:44:43.339990+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: NLRP2 was added\ngene: NLRP2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NLRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NLRP2 were set to 30877238; 39585517; 39905760\nPhenotypes for gene: NLRP2 were set to Oocyte/zygote/embryo maturation arrest 18, MIM# 620332\nReview for gene: NLRP2 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 30877238 (>3 unrelated infertile women due to early embryonic arrest with different biallelic variants)\r\n\r\nNew papers (biallelic variants for EEA): \r\ni) PMID: 39585517- A novel homozygous protein-truncating (p.Tyr66Thrfs*32) in an infertile female with early embryonic arrest, which resulted in the down-regulation of NLRP2 mRNA expression, truncation of the protein structure, and altered protein localization in cells.\r\n\r\nii) PMID: 39905760- Novel compound heterozygous protein-truncating variants ( p.Leu443Phefs*78 and p.Arg935Metfs*15) in a female with primary infertility, four early miscarriages, and one failed attempt of ICSI. The two variants mediate mRNA decay in EBV-transformed lymphoblastoid cells from the patient, lead to decreased NLRP2 protein levels, and alter NLRP2 interactions with other members of the SCMC in vitro. \nSources: Literature","entity_name":"NLRP2","entity_type":"gene"},{"created":"2025-04-24T11:39:33.551749+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: MOS was added\ngene: MOS was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: MOS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOS were set to 34779126; 34997960; 35670744; 36403623\nPhenotypes for gene: MOS were set to Oocyte/zygote/embryo maturation arrest 20, MIM# 620383\nReview for gene: MOS was set to GREEN\nAdded comment: Literature in OMIM- PMID: 34779126; 34997960; 35670744; 36403623- >3 unrelated women with infertility due to early/preimplantation embryonic arrest and fragmentation carrying different biallelic variants. All variants except I197M had functional evidence showing that mutant proteins showed reduced activation/phosphorylation of the MOS downstream targets compared to wildtype MOS.\r\nNote: couldn't find new case reports \nSources: Literature","entity_name":"MOS","entity_type":"gene"},{"created":"2025-04-24T11:33:23.151244+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: KPNA7 was added\ngene: KPNA7 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: KPNA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KPNA7 were set to 36647821\nPhenotypes for gene: KPNA7 were set to Oocyte/zygote/embryo maturation arrest 17, #MIM 620319\nReview for gene: KPNA7 was set to GREEN\nAdded comment: Literature in OMIM- PMID:36647821- 10 Chinese women from 10  independent families with infertility due to preimplantation embryo arrest carrying the following biallelic variants: x6 homozygous L203F missense, x3 compound heterozygous L203F/P212L, L203F/Q175K, L203F/C451X, and x1 homozygous V152M. Western blot of transfected HEK293T cells showed that all mutant protein levels were significantly lower than wildtype KPNA7. Mutant KPNA7 showed significantly reduced SV40TNLS protein transport activity compared to wildtype KPNA7. \r\n- There were no homozygotes for the recurrent L203F variant either in public databases or in-house control databases. Homozygosity mapping analysis suggested a low probability of founder effect for the recurrent variant L203F.\r\n\r\nNote: couldn't find new case reports \nSources: Literature","entity_name":"KPNA7","entity_type":"gene"},{"created":"2025-04-24T11:32:05.906443+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2005","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTTP as ready","entity_name":"MTTP","entity_type":"gene"},{"created":"2025-04-24T11:32:05.896044+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2005","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mttp has been classified as Green List (High Evidence).","entity_name":"MTTP","entity_type":"gene"},{"created":"2025-04-24T11:31:56.535780+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2005","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTTP were changed from Abetalipoproteinemia, 200100 (3) to Abetalipoproteinemia MIM#200100","entity_name":"MTTP","entity_type":"gene"},{"created":"2025-04-24T11:31:46.792655+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2004","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTTP were set to ","entity_name":"MTTP","entity_type":"gene"},{"created":"2025-04-24T11:30:50.184217+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2003","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTHFD1 as ready","entity_name":"MTHFD1","entity_type":"gene"},{"created":"2025-04-24T11:30:50.175842+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2003","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mthfd1 has been classified as Green List (High Evidence).","entity_name":"MTHFD1","entity_type":"gene"},{"created":"2025-04-24T11:30:46.807531+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2003","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTHFD1 were changed from Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive to Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive","entity_name":"MTHFD1","entity_type":"gene"},{"created":"2025-04-24T11:30:38.440040+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2002","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTHFD1 were set to ","entity_name":"MTHFD1","entity_type":"gene"},{"created":"2025-04-24T11:30:15.156558+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2001","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSTO1 as ready","entity_name":"MSTO1","entity_type":"gene"},{"created":"2025-04-24T11:30:15.150275+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2001","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msto1 has been classified as Green List (High Evidence).","entity_name":"MSTO1","entity_type":"gene"},{"created":"2025-04-24T11:30:11.943861+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2001","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSTO1 were set to 30684668; 31463572","entity_name":"MSTO1","entity_type":"gene"},{"created":"2025-04-24T11:29:42.791491+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2000","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMP2 as ready","entity_name":"MMP2","entity_type":"gene"},{"created":"2025-04-24T11:29:42.784524+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2000","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp2 has been classified as Green List (High Evidence).","entity_name":"MMP2","entity_type":"gene"},{"created":"2025-04-24T11:29:39.858405+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.2000","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMP2 were changed from Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3) to Multicentric osteolysis, nodulosis, and arthropathy, MIM#259600","entity_name":"MMP2","entity_type":"gene"},{"created":"2025-04-24T11:29:27.447241+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1999","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MMP2 were set to ","entity_name":"MMP2","entity_type":"gene"},{"created":"2025-04-24T11:29:01.252992+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1998","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MLC1 as ready","entity_name":"MLC1","entity_type":"gene"},{"created":"2025-04-24T11:29:01.238080+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1998","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlc1 has been classified as Green List (High Evidence).","entity_name":"MLC1","entity_type":"gene"},{"created":"2025-04-24T11:28:54.870218+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1998","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) to Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004","entity_name":"MLC1","entity_type":"gene"},{"created":"2025-04-24T11:28:43.075913+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1997","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MLC1 were set to ","entity_name":"MLC1","entity_type":"gene"},{"created":"2025-04-24T11:28:21.847898+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1996","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKS1 as ready","entity_name":"MKS1","entity_type":"gene"},{"created":"2025-04-24T11:28:21.840711+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1996","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mks1 has been classified as Green List (High Evidence).","entity_name":"MKS1","entity_type":"gene"},{"created":"2025-04-24T11:28:19.799981+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1996","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKS1 were changed from Meckel syndrome 1, 249000 (3) to Bardet-Biedl syndrome 13 MIM#615990; Joubert syndrome 28 MIM#617121; Meckel syndrome 1 MIM#249000; Ciliopathy MONDO:0005308","entity_name":"MKS1","entity_type":"gene"},{"created":"2025-04-24T11:28:07.542575+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1995","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MKS1 were set to ","entity_name":"MKS1","entity_type":"gene"},{"created":"2025-04-24T11:27:42.563326+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1994","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MICU1 as ready","entity_name":"MICU1","entity_type":"gene"},{"created":"2025-04-24T11:27:42.553720+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1994","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: micu1 has been classified as Green List (High Evidence).","entity_name":"MICU1","entity_type":"gene"},{"created":"2025-04-24T11:27:39.374351+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1994","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MICU1 were changed from Myopathy with extrapyramidal signs, 615673 (3) to Myopathy with extrapyramidal signs, MIM# 615673","entity_name":"MICU1","entity_type":"gene"},{"created":"2025-04-24T11:27:28.264012+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1993","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MICU1 were set to ","entity_name":"MICU1","entity_type":"gene"},{"created":"2025-04-24T11:26:47.403034+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1992","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFN2 as ready","entity_name":"MFN2","entity_type":"gene"},{"created":"2025-04-24T11:26:47.395448+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1992","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfn2 has been classified as Green List (High Evidence).","entity_name":"MFN2","entity_type":"gene"},{"created":"2025-04-24T11:26:44.984309+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1992","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive to Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800","entity_name":"MFN2","entity_type":"gene"},{"created":"2025-04-24T11:26:24.970459+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1991","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MFN2","entity_type":"gene"},{"created":"2025-04-24T11:25:31.332780+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1991","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MFN2 were set to ","entity_name":"MFN2","entity_type":"gene"},{"created":"2025-04-24T11:24:46.423442+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1990","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: METTL23 as ready","entity_name":"METTL23","entity_type":"gene"},{"created":"2025-04-24T11:24:46.416554+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1990","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mettl23 has been classified as Green List (High Evidence).","entity_name":"METTL23","entity_type":"gene"},{"created":"2025-04-24T11:22:41.570785+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1990","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: METTL23 were changed from Mental retardation, autosomal recessive 44, 615942 (3) to Intellectual developmental disorder, autosomal recessive 44, MIM #615942","entity_name":"METTL23","entity_type":"gene"},{"created":"2025-04-24T11:22:30.010330+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1989","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: METTL23 were set to ","entity_name":"METTL23","entity_type":"gene"},{"created":"2025-04-24T11:22:18.548801+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: CHEK1: Changed rating: GREEN","entity_name":"CHEK1","entity_type":"gene"},{"created":"2025-04-24T11:22:06.877439+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.63","user_name":"Jasmine Chew","item_type":"entity","text":"gene: CHEK1 was added\ngene: CHEK1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CHEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHEK1 were set to 33953335; 33948904\nPhenotypes for gene: CHEK1 were set to Oocyte/zygote/embryo maturation arrest 21, MIM# 620610\nAdded comment: Literature in OMIM- PMID: 33953335; 33948904\r\n- >3 unrelated with infertility due to zygote/embryo cleavage arrest with three different missense variants and 1 1bp deletion. Functional studies using transfection studies showed that all mutant increased cytoplasmic localization significantly greater kinase activity. Injection of all mutant cRNA into mouse zygotes with 2 distinct pronuclei also resulted in significantly decreased cleavage rates compared to wildtype.\r\n\r\nNote: couldn't find new case reports \nSources: Literature","entity_name":"CHEK1","entity_type":"gene"},{"created":"2025-04-24T11:21:51.220135+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1988","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEGF10 as ready","entity_name":"MEGF10","entity_type":"gene"},{"created":"2025-04-24T11:21:51.213456+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1988","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: megf10 has been classified as Green List (High Evidence).","entity_name":"MEGF10","entity_type":"gene"},{"created":"2025-04-24T11:21:48.609265+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1988","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3) to Congenital myopathy 10A, severe variant, MIM #614399; Congenital myopathy 10B, mild variant, MIM #620249","entity_name":"MEGF10","entity_type":"gene"},{"created":"2025-04-24T11:21:33.023940+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1987","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MEGF10 were set to ","entity_name":"MEGF10","entity_type":"gene"},{"created":"2025-04-24T11:20:59.586056+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1986","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MED12 as ready","entity_name":"MED12","entity_type":"gene"},{"created":"2025-04-24T11:20:59.578969+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1986","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med12 has been classified as Green List (High Evidence).","entity_name":"MED12","entity_type":"gene"},{"created":"2025-04-24T11:20:57.361368+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1986","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MED12 were changed from Lujan-Fryns syndrome, 309520 (3) to MED12-related intellectual disability syndrome, MONDO:0100000","entity_name":"MED12","entity_type":"gene"},{"created":"2025-04-24T11:20:44.153535+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1985","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MED12 were set to ","entity_name":"MED12","entity_type":"gene"},{"created":"2025-04-24T11:20:16.968842+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1984","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MBTPS2 as ready","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2025-04-24T11:20:16.961966+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1984","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mbtps2 has been classified as Green List (High Evidence).","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2025-04-24T11:20:14.664328+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1984","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MBTPS2 were changed from IFAP syndrome with or without BRESHECK syndrome, 308205 (3) to IFAP syndrome with or without BRESHECK syndrome MIM#308205; Osteogenesis imperfecta, type XIX MIM#301014","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2025-04-24T11:19:46.138132+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1983","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MBTPS2 were set to ","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2025-04-24T11:19:18.007915+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1982","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPKBP1 as ready","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2025-04-24T11:19:18.001297+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1982","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapkbp1 has been classified as Green List (High Evidence).","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2025-04-24T11:19:14.858211+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1982","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPKBP1 were changed from Nephronophthisis 20, 617271 (3), Autosomal recessive to Nephronophthisis 20, MIM# 617271; MONDO:0014997","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2025-04-24T11:19:03.740468+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1981","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPKBP1 were set to ","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2025-04-24T11:16:19.172916+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1980","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LYST as ready","entity_name":"LYST","entity_type":"gene"},{"created":"2025-04-24T11:16:19.166081+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1980","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lyst has been classified as Green List (High Evidence).","entity_name":"LYST","entity_type":"gene"},{"created":"2025-04-24T11:16:17.039973+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1980","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, 214500 (3) to Chediak-Higashi syndrome MIM#214500","entity_name":"LYST","entity_type":"gene"},{"created":"2025-04-24T11:15:25.838716+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1979","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LYST were set to ","entity_name":"LYST","entity_type":"gene"},{"created":"2025-04-24T11:14:52.800960+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1978","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRMDA as ready","entity_name":"LRMDA","entity_type":"gene"},{"created":"2025-04-24T11:14:52.792913+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1978","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrmda has been classified as Green List (High Evidence).","entity_name":"LRMDA","entity_type":"gene"},{"created":"2025-04-24T11:14:49.359006+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1978","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRMDA were changed from Albinism, oculocutaneous, type VII, 615179 (3) to Albinism, oculocutaneous, type VII MIM#615179; MONDO:0014070","entity_name":"LRMDA","entity_type":"gene"},{"created":"2025-04-24T11:14:38.990566+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1977","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRMDA were set to ","entity_name":"LRMDA","entity_type":"gene"},{"created":"2025-04-24T11:14:17.382860+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1976","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRAT as ready","entity_name":"LRAT","entity_type":"gene"},{"created":"2025-04-24T11:14:17.375919+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1976","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrat has been classified as Green List (High Evidence).","entity_name":"LRAT","entity_type":"gene"},{"created":"2025-04-24T11:14:14.759806+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1976","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRAT were changed from Leber congenital amaurosis 14, 613341 (3) to Retinal dystrophy, early-onset severe; Leber congenital amaurosis 14; Retinitis pigmentosa, juvenile, all under MIM #613341","entity_name":"LRAT","entity_type":"gene"},{"created":"2025-04-24T11:14:03.583298+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1975","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRAT were set to ","entity_name":"LRAT","entity_type":"gene"},{"created":"2025-04-24T11:13:37.184145+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1974","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LONP1 as ready","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-04-24T11:13:37.176891+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1974","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lonp1 has been classified as Green List (High Evidence).","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-04-24T11:13:34.888971+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1974","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373 (3) to CODAS syndrome, MIM#600373","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-04-24T11:13:24.516757+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1973","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LONP1 were set to ","entity_name":"LONP1","entity_type":"gene"}]}