{"count":220916,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1020","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1018","results":[{"created":"2022-01-28T11:16:54.788753+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2845","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MKKS as ready","entity_name":"MKKS","entity_type":"gene"},{"created":"2022-01-28T11:16:54.773972+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2845","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mkks has been classified as Green List (High Evidence).","entity_name":"MKKS","entity_type":"gene"},{"created":"2022-01-28T11:16:43.986868+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2845","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MKKS were changed from BARDET-BIEDL SYNDROME TYPE 6; MCKUSICK-KAUFMAN SYNDROME to McKusick-Kaufman syndrome, MIM# 236700; Bardet-Biedl syndrome 6, MIM# 605231","entity_name":"MKKS","entity_type":"gene"},{"created":"2022-01-28T11:12:37.372142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2844","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MGP as ready","entity_name":"MGP","entity_type":"gene"},{"created":"2022-01-28T11:12:37.360531+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2844","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mgp has been classified as Green List (High Evidence).","entity_name":"MGP","entity_type":"gene"},{"created":"2022-01-28T11:12:31.150367+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2844","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MGP were changed from KEUTEL SYNDROME to Keutel syndrome, MIM #245150","entity_name":"MGP","entity_type":"gene"},{"created":"2022-01-28T11:11:54.638755+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2843","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MGP","entity_type":"gene"},{"created":"2022-01-28T11:06:41.285708+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2843","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MTM1 as ready","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-01-28T11:06:41.274191+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2843","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mtm1 has been classified as Green List (High Evidence).","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-01-28T11:06:22.928227+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2843","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MTM1 were changed from MYOTUBULAR MYOPATHY, X-LINKED to Myotubular myopathy, X-linked, MIM# 310400","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-01-28T11:05:16.026651+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2842","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-01-28T11:00:56.173058+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2842","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MFSD2A as ready","entity_name":"MFSD2A","entity_type":"gene"},{"created":"2022-01-28T11:00:56.163226+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2842","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mfsd2a has been classified as Green List (High Evidence).","entity_name":"MFSD2A","entity_type":"gene"},{"created":"2022-01-28T11:00:48.160875+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2842","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MFSD2A were changed from Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, MIM# 616486","entity_name":"MFSD2A","entity_type":"gene"},{"created":"2022-01-28T10:57:32.147050+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCC9 as ready","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:57:32.136666+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc9 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:57:26.886310+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCC9 as Amber List (moderate evidence)","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:57:26.876189+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc9 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:57:20.688839+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2841","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MFRP as ready","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:57:20.678454+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2841","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mfrp has been classified as Red List (Low Evidence).","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:57:14.807163+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2841","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: MFRP as Red List (low evidence)","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:57:14.800901+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2841","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment on list classification: Ocular anomalies not detectable on US. No extra-ocular fetal anomalies reported. Marked as Red for fetal anomalies gene panel","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:57:14.769134+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2841","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mfrp has been classified as Red List (Low Evidence).","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:57:07.576273+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC9 was added\ngene: ABCC9 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: ABCC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCC9 were set to 31575858\nPhenotypes for gene: ABCC9 were set to Intellectual disability and myopathy syndrome, MIM# 619719\nReview for gene: ABCC9 was set to AMBER\nAdded comment: PMID 31575858: Report of 6 cases from 2 families, all with homozygous c.1320+1G>A. Phenotype of mild ID, similar facies, myopathy, cerebral white matter hyperintensities, and cardiac systolic dysfunction in the oldest cases. \r\n'This mutation results in an in-frame deletion of exon 8, which results in non-functional KATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing KATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of KATP loss- versus gain-of-function'. \nSources: Literature","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:55:37.752372+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"changed review comment from: Bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen. Ocular abnormalities not detectable on fetal US and no association with extra-ocular fetal anomalies.; to: Bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen. Ocular abnormalities not detectable on fetal US and no association with extra-ocular fetal anomalies.","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:55:26.866722+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MFRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:54:42.896342+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCC9 as ready","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:54:42.886920+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc9 has been classified as Green List (High Evidence).","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:54:38.869282+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCC9 were changed from  to Intellectual disability and myopathy syndrome, MIM# 619719; Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:53:54.383043+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4469","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCC9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:53:26.613873+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4468","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31575858, 22610116, 22608503; Phenotypes: Intellectual disability and myopathy syndrome, MIM# 619719, Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:50:58.833507+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10808","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCC9 were changed from Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome; mild ID, similar facies, myopathy, cerebral white matter hyperintensities; cardiac systolic dysfunction to Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome; Intellectual disability and myopathy syndrome, MIM# 619719","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:50:22.899203+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10807","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:50:02.304337+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10806","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ABCC9: Changed phenotypes: Hypertrichotic osteochondrodysplasia, MIM# 239850, Cantu syndrome, Intellectual disability and myopathy syndrome, MIM# 619719","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:17:52.428616+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: IQCB1 as ready","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:17:52.423282+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment when marking as ready: Not associated with fetal anomalies. Marked as RED for fetal anomalies panel","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:17:52.399966+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"Gene: iqcb1 has been classified as Red List (Low Evidence).","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:16:58.330488+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: IQCB1 as Red List (low evidence)","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:16:58.321090+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"Gene: iqcb1 has been classified as Red List (Low Evidence).","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:16:37.152603+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2839","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:10:40.239391+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2839","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: IARS were changed from Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, OMIM# 617093","entity_name":"IARS","entity_type":"gene"},{"created":"2022-01-28T10:09:59.403481+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735, 27891590; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IARS","entity_type":"gene"},{"created":"2022-01-28T10:07:19.408241+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: IARS as ready","entity_name":"IARS","entity_type":"gene"},{"created":"2022-01-28T10:07:19.396674+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Alison Yeung","item_type":"entity","text":"Gene: iars has been classified as Green List (High Evidence).","entity_name":"IARS","entity_type":"gene"},{"created":"2022-01-28T08:53:04.770338+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CTU2 as ready","entity_name":"CTU2","entity_type":"gene"},{"created":"2022-01-28T08:53:04.746565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ctu2 has been classified as Green List (High Evidence).","entity_name":"CTU2","entity_type":"gene"},{"created":"2022-01-27T17:04:24.846984+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNNI2 as ready","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:04:24.834444+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnni2 has been classified as Green List (High Evidence).","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:04:21.195250+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B 601680 to Arthrogryposis multiplex congenita, distal, type 2B MIM#601680","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:03:19.508149+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2837","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNNI2 were set to ","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:03:07.925114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2836","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNNI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:02:56.136683+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2835","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility demonstrated for at least two variants.; to: Gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility demonstrated for at least two variants.\r\n\r\nPerinatal presentation.","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:01:37.016371+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2835","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNNT1 as ready","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-01-27T17:01:37.004393+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2835","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnnt1 has been classified as Green List (High Evidence).","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-01-27T17:01:33.157376+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2835","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNNT1 were changed from Nemaline myopathy, Amish type 605355 to Nemaline myopathy 5, Amish type, MIM# 605355","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-01-27T16:59:44.120300+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2834","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNNT1 were set to ","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-01-27T14:39:14.820076+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2833","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACP5 were set to ","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T14:38:27.036993+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10806","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACP5 were changed from  to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T14:37:31.588797+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10805","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACP5 were set to ","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T14:37:11.520654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10804","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACP5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T14:36:28.164066+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10803","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACP2 were changed from  to Lysosomal acid phosphatase deficiency, MIM# 200950","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T14:36:05.723458+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10802","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACP2 were set to ","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T14:35:47.235454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10801","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T14:34:37.103566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2832","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACAN were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY to Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800","entity_name":"ACAN","entity_type":"gene"},{"created":"2022-01-27T14:34:23.839813+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2831","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACAN were set to ","entity_name":"ACAN","entity_type":"gene"},{"created":"2022-01-27T14:33:53.212831+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCE as ready","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T14:33:53.199772+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T14:33:16.919529+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCE as ready","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T14:33:16.908650+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T14:32:32.126863+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3R5 as ready","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:32:32.115912+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r5 has been classified as Red List (Low Evidence).","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:32:29.853837+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIK3R5 were changed from  to Ataxia-oculomotor apraxia 3, OMIM #615217","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:32:05.633093+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIK3R5 were set to ","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:31:36.370663+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIK3R5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:31:08.516457+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIK3R5 as Red List (low evidence)","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:31:08.505640+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r5 has been classified as Red List (Low Evidence).","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:30:43.748592+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: None; Publications: 22065524; Phenotypes: Ataxia-oculomotor apraxia 3, OMIM #615217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:30:05.524406+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10800","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3R5 as ready","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:30:05.512682+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10800","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r5 has been classified as Red List (Low Evidence).","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:29:56.790640+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10800","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIK3R5 were changed from  to Ataxia-oculomotor apraxia 3, OMIM #615217","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:29:36.426836+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10799","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIK3R5 were set to ","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:29:18.983733+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10798","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIK3R5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:28:50.948477+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10797","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIK3R5 as Red List (low evidence)","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:28:50.937389+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10797","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r5 has been classified as Red List (Low Evidence).","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:28:33.530800+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10796","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: None; Publications: 22065524; Phenotypes: Ataxia-oculomotor apraxia 3, OMIM #615217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:26:11.115393+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3R5 as ready","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:26:11.101019+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r5 has been classified as Red List (Low Evidence).","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:25:16.863813+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGS as ready","entity_name":"PIGS","entity_type":"gene"},{"created":"2022-01-27T14:25:16.853992+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigs has been classified as Green List (High Evidence).","entity_name":"PIGS","entity_type":"gene"},{"created":"2022-01-27T14:25:14.018309+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGS were set to PubMed: 30269814, 33410539","entity_name":"PIGS","entity_type":"gene"},{"created":"2022-01-27T14:24:35.615523+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.321","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUBPL as ready","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-01-27T14:24:35.604740+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.321","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":"2022-01-27T14:24:32.681784+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.321","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NUBPL were set to PubMed: 23553477, 32518176,","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-01-27T14:23:54.721452+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOVA2 as ready","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:23:54.705778+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:22:16.648136+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2830","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOVA2 as ready","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:22:16.636643+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2830","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:22:13.313821+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2830","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOVA2 were changed from Intellectual disability with ataxia/spasticity to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM#\t618859","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:21:44.239449+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2829","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOVA2 were set to ","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:21:34.343562+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2828","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: NOVA2 was changed from  to Other","entity_name":"NOVA2","entity_type":"gene"}]}