{"count":221276,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1045","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1043","results":[{"created":"2022-01-17T10:26:40.624984+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4439","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANAPC7 as Amber List (moderate evidence)","entity_name":"ANAPC7","entity_type":"gene"},{"created":"2022-01-17T10:26:40.613920+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4439","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: anapc7 has been classified as Amber List (Moderate Evidence).","entity_name":"ANAPC7","entity_type":"gene"},{"created":"2022-01-17T10:25:25.320209+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4438","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANAPC7 was added\ngene: ANAPC7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ANAPC7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANAPC7 were set to 34942119\nPhenotypes for gene: ANAPC7 were set to Ferguson-Bonni neurodevelopmental syndrome, MIM#\t619699\nReview for gene: ANAPC7 was set to AMBER\nAdded comment: 11 individuals of Amish heritage reported homozygous for an intragenic deletion. Clinical features included ID, hypotonia, deafness in 5, relatively small head size (but microcephaly only in 1), and occasional congenital anomalies.\r\n\r\nSupportive mouse model.\r\n\r\nAmber rating in light of this being a founder variant. \nSources: Literature","entity_name":"ANAPC7","entity_type":"gene"},{"created":"2022-01-15T21:04:42.445442+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2307","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC2LI1 as ready","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2022-01-15T21:04:42.435009+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2307","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync2li1 has been classified as Green List (High Evidence).","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2022-01-15T21:04:37.953229+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2307","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DYNC2LI1 were changed from Short-rib thoracic dysplasia 15 with polydactyly, 617088 to Short-rib thoracic dysplasia 15 with polydactyly, MIM#617088","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2022-01-15T21:04:26.734849+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2306","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DYNC2LI1 were set to ","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2022-01-15T21:04:10.484525+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2305","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DYNC2LI1 as Green List (high evidence)","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2022-01-15T21:04:10.471671+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync2li1 has been classified as Green List (High Evidence).","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2022-01-15T21:02:38.255001+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2304","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNM1 as ready","entity_name":"DNM1","entity_type":"gene"},{"created":"2022-01-15T21:02:38.242936+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnm1 has been classified as Red List (Low Evidence).","entity_name":"DNM1","entity_type":"gene"},{"created":"2022-01-15T21:02:29.976144+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2304","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNM1 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 31, OMIM:616346","entity_name":"DNM1","entity_type":"gene"},{"created":"2022-01-15T21:02:18.515732+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2303","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNM1 were set to ","entity_name":"DNM1","entity_type":"gene"},{"created":"2022-01-15T21:02:05.935526+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2302","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DNM1","entity_type":"gene"},{"created":"2022-01-15T21:01:55.579150+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2301","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNM1 as Red List (low evidence)","entity_name":"DNM1","entity_type":"gene"},{"created":"2022-01-15T21:01:55.569723+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnm1 has been classified as Red List (Low Evidence).","entity_name":"DNM1","entity_type":"gene"},{"created":"2022-01-15T21:01:40.880819+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2300","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well-established link between heterozygous variants in DNM1 and developmental and epileptic encephalopathy. Yigit et al. 2021 (PMID: 34172529) recently reported two unrelated patients with DEE and homozygous truncating variants (c.97C>T; p.(Gln33*) and c.850C>T; p.(Gln284*), respectively) in the DNM1 gene. All parents were heterozygous carriers but did not show any clinical symptoms indicating a recessive inheritance pattern. No function studies were performed.; to: Well-established link between heterozygous variants in DNM1 and developmental and epileptic encephalopathy. Yigit et al. 2021 (PMID: 34172529) recently reported two unrelated patients with DEE and homozygous truncating variants (c.97C>T; p.(Gln33*) and c.850C>T; p.(Gln284*), respectively) in the DNM1 gene. All parents were heterozygous carriers but did not show any clinical symptoms indicating a recessive inheritance pattern. No function studies were performed.\r\n\r\nClinical presentation is typically post-natal.","entity_name":"DNM1","entity_type":"gene"},{"created":"2022-01-15T21:01:23.757827+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2300","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNM1: Changed rating: RED","entity_name":"DNM1","entity_type":"gene"},{"created":"2022-01-15T21:00:19.153122+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2300","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAL1 as ready","entity_name":"DNAL1","entity_type":"gene"},{"created":"2022-01-15T21:00:19.142701+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnal1 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAL1","entity_type":"gene"},{"created":"2022-01-15T21:00:11.014294+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2300","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAL1 were changed from Ciliary dyskinesia, primary, 16, 614017 to Ciliary dyskinesia, primary, 16, MIM# 614017","entity_name":"DNAL1","entity_type":"gene"},{"created":"2022-01-15T20:59:44.525541+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2299","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAL1 were set to ","entity_name":"DNAL1","entity_type":"gene"},{"created":"2022-01-15T20:56:39.049476+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC12 as ready","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-01-15T20:56:39.038986+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc12 has been classified as Red List (Low Evidence).","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-01-15T20:56:00.771820+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2298","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC12 were changed from Hyperphenylalaninemia, Dystonia, and Intellectual Disability to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-01-15T20:55:44.743782+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2297","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJC12 as Red List (low evidence)","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-01-15T20:55:44.733883+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc12 has been classified as Red List (Low Evidence).","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-01-15T20:52:30.346979+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2296","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable. \nSources: Expert list; to: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable. \r\n\r\nClinical presentation is post-natal.\r\nSources: Expert list","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-01-15T20:52:17.328519+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2296","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNAJC12: Changed rating: RED","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2022-01-15T20:51:20.704734+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAI2 as ready","entity_name":"DNAI2","entity_type":"gene"},{"created":"2022-01-15T20:51:20.692181+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnai2 has been classified as Green List (High Evidence).","entity_name":"DNAI2","entity_type":"gene"},{"created":"2022-01-15T20:51:11.037585+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2296","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAI2 were changed from Ciliary dyskinesia, primary, 9, with or without situs inversus,612444 to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444","entity_name":"DNAI2","entity_type":"gene"},{"created":"2022-01-15T20:50:57.388167+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2295","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAI2 were set to ","entity_name":"DNAI2","entity_type":"gene"},{"created":"2022-01-15T20:50:38.172594+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2294","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAI2 as Green List (high evidence)","entity_name":"DNAI2","entity_type":"gene"},{"created":"2022-01-15T20:50:38.161205+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2294","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnai2 has been classified as Green List (High Evidence).","entity_name":"DNAI2","entity_type":"gene"},{"created":"2022-01-15T20:49:56.058007+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2293","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAAF5 as ready","entity_name":"DNAAF5","entity_type":"gene"},{"created":"2022-01-15T20:49:56.046062+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnaaf5 has been classified as Green List (High Evidence).","entity_name":"DNAAF5","entity_type":"gene"},{"created":"2022-01-15T20:49:47.078894+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2293","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAAF5 were set to ","entity_name":"DNAAF5","entity_type":"gene"},{"created":"2022-01-15T20:49:34.643367+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2292","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAAF5 as Green List (high evidence)","entity_name":"DNAAF5","entity_type":"gene"},{"created":"2022-01-15T20:49:34.633503+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnaaf5 has been classified as Green List (High Evidence).","entity_name":"DNAAF5","entity_type":"gene"},{"created":"2022-01-15T20:49:02.652789+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2291","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAAF2 as ready","entity_name":"DNAAF2","entity_type":"gene"},{"created":"2022-01-15T20:49:02.640699+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnaaf2 has been classified as Green List (High Evidence).","entity_name":"DNAAF2","entity_type":"gene"},{"created":"2022-01-15T20:48:57.970071+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2291","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAAF2 were set to ","entity_name":"DNAAF2","entity_type":"gene"},{"created":"2022-01-15T20:48:45.402940+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAAF2 as Green List (high evidence)","entity_name":"DNAAF2","entity_type":"gene"},{"created":"2022-01-15T20:48:45.391977+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnaaf2 has been classified as Green List (High Evidence).","entity_name":"DNAAF2","entity_type":"gene"},{"created":"2022-01-15T19:34:18.043819+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10636","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLX5 as ready","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:34:18.034058+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10636","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx5 has been classified as Green List (High Evidence).","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:34:09.873991+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10636","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLX5 were changed from  to Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600; Split-hand/foot malformation 1 MIM#183600","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:33:50.706974+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10635","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLX5 were set to ","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:33:32.950038+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10634","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DLX5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:33:15.240610+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10633","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: A homozygous missense mutation (Q178P) was identified in 2 affected sisters from a consanguineous Yemeni family with split-hand/foot malformation and hearing loss, who had no detectable chromosomal aberration, Shamseldin et al. (2012).\r\n\r\nA heterozygosity missense mutation (Q186H) was identified in a 31-year-old Chinese woman with SHFM, Wang et al. (2014).\r\nA heterozygosity nonsense mutationIn (E39X) was identified in the probands from 2 unrelated Polish families with isolated SHFM, Sowinska-Seidler et al. (2014).\r\n\r\nAnimal model evidence - mouse; to: A homozygous missense mutation (Q178P) was identified in 2 affected sisters from a consanguineous Yemeni family with split-hand/foot malformation and hearing loss, who had no detectable chromosomal aberration, Shamseldin et al. (2012).\r\n\r\nA heterozygosity missense mutation (Q186H) was identified in a 31-year-old Chinese woman with SHFM, Wang et al. (2014).\r\nA heterozygosity nonsense mutationIn (E39X) was identified in the probands from 2 unrelated Polish families with isolated SHFM, Sowinska-Seidler et al. (2014).\r\n\r\nAnimal model evidence - mouse\r\n\r\nGreen for mono-allelic, Amber for bi-allelic.","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:32:56.294660+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10633","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600, Split-hand/foot malformation 1 MIM#183600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:31:25.209358+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2289","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLX5 as ready","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:31:25.199121+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx5 has been classified as Green List (High Evidence).","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:31:20.906668+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2289","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLX5 were changed from ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600 to Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600; Split-hand/foot malformation 1 MIM#183600","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:31:03.130095+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2288","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLX5 were set to ","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:30:50.901284+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2287","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLX5 as Green List (high evidence)","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:30:50.891512+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlx5 has been classified as Green List (High Evidence).","entity_name":"DLX5","entity_type":"gene"},{"created":"2022-01-15T19:30:00.888049+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLG4 as ready","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-01-15T19:30:00.881265+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2286","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Clinical presentation is post-natal.","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-01-15T19:30:00.848177+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlg4 has been classified as Red List (Low Evidence).","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-01-15T19:29:48.811343+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2286","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLG4 as Red List (low evidence)","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-01-15T19:29:48.801453+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlg4 has been classified as Red List (Low Evidence).","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-01-15T19:29:40.500937+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2285","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DLG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-01-15T19:29:29.823900+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2284","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLG4 were set to ","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-01-15T19:29:12.196196+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2283","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLG4 were changed from DLG4 related intellectual disability to Intellectual developmental disorder 62, MIM#\t618793","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-01-15T19:28:22.369270+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2282","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DLG4: Changed rating: RED","entity_name":"DLG4","entity_type":"gene"},{"created":"2022-01-15T19:27:47.113184+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4437","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:27:24.580416+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4436","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DISP1 was changed from Unknown to Other","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:26:33.523036+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10633","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:26:07.252132+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:25:30.136825+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2282","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:25:00.798391+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2281","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DISP1 as ready","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:25:00.786801+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2281","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: disp1 has been classified as Red List (Low Evidence).","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:24:54.940221+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2281","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DISP1 were set to 27363716","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:24:41.771529+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2280","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DISP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:24:23.954258+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2279","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DISP1 as Red List (low evidence)","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:24:23.939754+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: disp1 has been classified as Red List (Low Evidence).","entity_name":"DISP1","entity_type":"gene"},{"created":"2022-01-15T19:23:49.785647+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DIAPH1 as ready","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2022-01-15T19:23:49.771390+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: diaph1 has been classified as Green List (High Evidence).","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2022-01-15T19:23:45.786847+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2278","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DIAPH1 were changed from Seizures, cortical blindness, microcephaly syndrome, 616632 to Seizures, cortical blindness, microcephaly syndrome, MIM#616632","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2022-01-15T19:23:30.826469+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2277","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DIAPH1 were set to ","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2022-01-15T19:23:06.819834+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2276","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DIAPH1 as Green List (high evidence)","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2022-01-15T19:23:06.809570+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: diaph1 has been classified as Green List (High Evidence).","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2022-01-15T19:22:09.305764+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2275","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHX30 as ready","entity_name":"DHX30","entity_type":"gene"},{"created":"2022-01-15T19:22:09.295606+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2275","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx30 has been classified as Red List (Low Evidence).","entity_name":"DHX30","entity_type":"gene"},{"created":"2022-01-15T19:21:58.801497+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2275","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHX30 were changed from Neurodevelopmental Disorder to Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804","entity_name":"DHX30","entity_type":"gene"},{"created":"2022-01-15T19:21:38.354210+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2274","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHX30 were set to ","entity_name":"DHX30","entity_type":"gene"},{"created":"2022-01-15T19:21:25.839955+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2273","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHX30 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DHX30","entity_type":"gene"},{"created":"2022-01-15T19:21:16.130023+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2272","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHX30 as Red List (low evidence)","entity_name":"DHX30","entity_type":"gene"},{"created":"2022-01-15T19:21:16.105862+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2272","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx30 has been classified as Red List (Low Evidence).","entity_name":"DHX30","entity_type":"gene"},{"created":"2022-01-15T19:21:05.695463+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2271","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787).\r\n\r\nPost-natal onset.; to: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787).\r\n\r\nPost-natal presentation.","entity_name":"DHX30","entity_type":"gene"},{"created":"2022-01-15T19:20:53.557456+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2271","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787).; to: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787).\r\n\r\nPost-natal onset.","entity_name":"DHX30","entity_type":"gene"},{"created":"2022-01-15T19:20:42.990200+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2271","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DHX30: Changed rating: RED","entity_name":"DHX30","entity_type":"gene"},{"created":"2022-01-15T19:19:41.684261+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2271","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHDDS as ready","entity_name":"DHDDS","entity_type":"gene"},{"created":"2022-01-15T19:19:41.665720+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2271","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhdds has been classified as Red List (Low Evidence).","entity_name":"DHDDS","entity_type":"gene"},{"created":"2022-01-15T19:19:26.417498+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2271","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHDDS were changed from Epilepsy and intellectual disability to Developmental delay and seizures with or without movement abnormalities, MIM#617836","entity_name":"DHDDS","entity_type":"gene"},{"created":"2022-01-15T19:19:14.659861+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2270","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHDDS were set to ","entity_name":"DHDDS","entity_type":"gene"},{"created":"2022-01-15T19:19:04.746154+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2269","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHDDS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DHDDS","entity_type":"gene"},{"created":"2022-01-15T19:18:54.409151+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2268","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHDDS as Red List (low evidence)","entity_name":"DHDDS","entity_type":"gene"}]}