{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1061","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1059","results":[{"created":"2022-01-05T17:58:47.626768+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4412","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpf2 has been classified as Green List (High Evidence).","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:58:43.857390+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4412","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPF2 were changed from  to Coffin-Siris syndrome 7, MIM#618027","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:58:14.061645+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4411","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPF2 were set to ","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:57:40.032345+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4410","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:56:56.322482+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10499","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPF2 as ready","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:56:56.312068+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10499","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpf2 has been classified as Green List (High Evidence).","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:56:47.913880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10499","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPF2 were changed from  to Coffin-Siris syndrome 7, MIM#618027","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:56:23.781565+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10498","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPF2 were set to ","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:56:05.009174+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10497","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:55:37.125484+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1852","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPF2 as Green List (high evidence)","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:55:37.113540+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1852","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpf2 has been classified as Green List (High Evidence).","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:55:23.282126+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1851","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 7, MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T17:53:21.967045+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1851","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC19 as ready","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:53:21.956346+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1851","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc19 has been classified as Green List (High Evidence).","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:53:17.177430+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1851","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJC19 were set to ","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:53:03.225326+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1850","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJC19 as Green List (high evidence)","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:53:03.210234+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1850","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc19 has been classified as Green List (High Evidence).","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:52:51.506845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1849","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V MIM#610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:51:40.764756+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10496","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC19 as ready","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:51:40.753685+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc19 has been classified as Green List (High Evidence).","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:51:32.927544+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10496","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC19 were changed from  to 3-methylglutaconic aciduria, type V MIM#610198","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:51:08.630995+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10495","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJC19 were set to ","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:50:32.789213+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10494","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T17:43:07.656067+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.118","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34400813; Phenotypes: Sudden cardiac failure, infantile, OMM #  617222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPA2","entity_type":"gene"},{"created":"2022-01-05T17:31:05.389426+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.282","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PRDM9 as Green List (high evidence)","entity_name":"PRDM9","entity_type":"gene"},{"created":"2022-01-05T17:31:05.379497+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.282","user_name":"Chirag Patel","item_type":"entity","text":"Gene: prdm9 has been classified as Green List (High Evidence).","entity_name":"PRDM9","entity_type":"gene"},{"created":"2022-01-05T17:30:30.632279+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.281","user_name":"Chirag Patel","item_type":"entity","text":"gene: PRDM9 was added\ngene: PRDM9 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM9 were set to PMID: 34257419\nPhenotypes for gene: PRDM9 were set to Premature ovarian insufficiency, no OMIM #\nReview for gene: PRDM9 was set to GREEN\nAdded comment: The primordial follicle pool is determined by the meiosis process, which is initiated by programmed DNA double strand breaks (DSB) and homologous recombination. PRDM9 is a meiosis-specific histone H3 methyltransferase and a major determinant of meiotic recombination hotspots in mammals.\r\n\r\n3 pathogenic heterozygous variants in PRDM9 identified in 4 patients with POI. Functional studies showed the variants in PRDM9 impaired its methyltransferase activity. Prdm9+/- mice were subfertile, and showed increased percentage of germ cells at abnormal pachytene stage with decreased number of PRDM9-dependent DSBs and insufficient recombination. \nSources: Literature","entity_name":"PRDM9","entity_type":"gene"},{"created":"2022-01-05T17:17:47.406540+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4409","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NAA20 as Green List (high evidence)","entity_name":"NAA20","entity_type":"gene"},{"created":"2022-01-05T17:17:47.396359+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4409","user_name":"Chirag Patel","item_type":"entity","text":"Gene: naa20 has been classified as Green List (High Evidence).","entity_name":"NAA20","entity_type":"gene"},{"created":"2022-01-05T17:17:45.004402+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.88","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NAA20 as Green List (high evidence)","entity_name":"NAA20","entity_type":"gene"},{"created":"2022-01-05T17:17:44.992537+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.88","user_name":"Chirag Patel","item_type":"entity","text":"Gene: naa20 has been classified as Green List (High Evidence).","entity_name":"NAA20","entity_type":"gene"},{"created":"2022-01-05T17:16:56.147140+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.87","user_name":"Chirag Patel","item_type":"entity","text":"gene: NAA20 was added\ngene: NAA20 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAA20 were set to PMID: 34230638\nPhenotypes for gene: NAA20 were set to Autosomal recessive developmental delay, intellectual disability, and microcephaly\nReview for gene: NAA20 was set to GREEN\nAdded comment: 2 consanguineous families with 5 affected individuals with developmental delay, intellectual disability, and microcephaly (-2-4SD). Exome and genome sequencing identified 2 different homozygous variants in NAA20 gene (p.Met54Val and p.Ala80Val), and segregated with affected individuals. N-terminal acetyltransferases modify proteins by adding an acetyl moiety to the first amino acid and are vital for protein and cell function. The NatB complex acetylates 20% of the human proteome and is composed of the catalytic subunit NAA20 and the auxiliary subunit NAA25. Both NAA20-M54V and NAA20-A80V were impaired in their capacity to form a NatB complex with NAA25, and in vitro acetylation assays revealed reduced catalytic activities toward different NatB substrates. \nSources: Literature","entity_name":"NAA20","entity_type":"gene"},{"created":"2022-01-05T17:16:47.515003+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4408","user_name":"Chirag Patel","item_type":"entity","text":"gene: NAA20 was added\ngene: NAA20 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAA20 were set to PMID: 34230638\nPhenotypes for gene: NAA20 were set to Autosomal recessive developmental delay, intellectual disability, and microcephaly\nAdded comment: 2 consanguineous families with 5 affected individuals with developmental delay, intellectual disability, and microcephaly (-2-4SD). Exome and genome sequencing identified 2 different homozygous variants in NAA20 gene (p.Met54Val and p.Ala80Val), and segregated with affected individuals. N-terminal acetyltransferases modify proteins by adding an acetyl moiety to the first amino acid and are vital for protein and cell function. The NatB complex acetylates 20% of the human proteome and is composed of the catalytic subunit NAA20 and the auxiliary subunit NAA25. Both NAA20-M54V and NAA20-A80V were impaired in their capacity to form a NatB complex with NAA25, and in vitro acetylation assays revealed reduced catalytic activities toward different NatB substrates. \nSources: Literature","entity_name":"NAA20","entity_type":"gene"},{"created":"2022-01-05T17:16:18.462720+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1849","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"REN","entity_type":"gene"},{"created":"2022-01-05T17:13:11.609344+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10493","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PLA2G7: Rating: RED; Mode of pathogenicity: None; Publications: 3198761, 10733466, 25587968, 28406212; Phenotypes: Platelet-activating factor acetylhydrolase deficiency MIM#614278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PLA2G7","entity_type":"gene"},{"created":"2022-01-05T16:08:28.688313+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1849","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973257, 29671837, 16958033, 31805691; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RELN","entity_type":"gene"},{"created":"2022-01-05T15:00:41.741505+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1849","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome (MIM#201000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB23","entity_type":"gene"},{"created":"2022-01-05T14:57:15.933024+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10493","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome (MIM#201000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB23","entity_type":"gene"},{"created":"2022-01-05T14:29:08.107215+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1849","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 19426954; Phenotypes: SESAME syndrome (MIM#612780), Enlarged vestibular aqueduct, digenic (MIM#600791); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2022-01-05T13:10:27.618806+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1849","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JAGN1 as ready","entity_name":"JAGN1","entity_type":"gene"},{"created":"2022-01-05T13:10:27.604128+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1849","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jagn1 has been classified as Amber List (Moderate Evidence).","entity_name":"JAGN1","entity_type":"gene"},{"created":"2022-01-05T13:10:22.683245+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1849","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JAGN1 were changed from SEVERE CONGENITAL NEUTROPENIA to Neutropenia, severe congenital, 6, autosomal recessive (MIM#616022)","entity_name":"JAGN1","entity_type":"gene"},{"created":"2022-01-05T13:10:10.347813+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1848","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JAGN1 were set to ","entity_name":"JAGN1","entity_type":"gene"},{"created":"2022-01-05T13:09:57.101766+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1847","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JAGN1 as Amber List (moderate evidence)","entity_name":"JAGN1","entity_type":"gene"},{"created":"2022-01-05T13:09:57.089042+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1847","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jagn1 has been classified as Amber List (Moderate Evidence).","entity_name":"JAGN1","entity_type":"gene"},{"created":"2022-01-05T13:08:43.021228+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1846","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:KCNE1 from the panel","entity_name":null,"entity_type":null},{"created":"2022-01-05T13:06:53.686432+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4407","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNC1 as ready","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:06:53.675605+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4407","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc1 has been classified as Green List (High Evidence).","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:06:47.538288+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4407","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNC1 were changed from  to Intellectual disability; Movement disorders; Epilepsy, progressive myoclonic 7 (MIM#616187)","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:06:22.177155+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4406","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNC1 were set to ","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:05:49.880976+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4405","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:05:22.832763+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4404","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28145425, 31353862, 25401298; Phenotypes: Intellectual disability, Movement disorders, Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:05:07.492281+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNC1 as ready","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:05:07.480529+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc1 has been classified as Green List (High Evidence).","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:05:02.619265+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNC1 were changed from  to Epilepsy, progressive myoclonic 7 (MIM#616187); Intellectual disability; Movement disorders","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:04:34.602052+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1845","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:KCNC1 from the panel","entity_name":null,"entity_type":null},{"created":"2022-01-05T13:04:01.016679+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1415","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNC1 were set to 28145425; 31353862; 25401298","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:03:39.706822+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1415","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNC1 were set to ","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:03:10.488235+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10493","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19558595, 29315490, 31192455, 23974871, 29229434, 33666035; Phenotypes: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508), Keratosis palmoplantaris striata I, AD (MIM# 148700); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"DSG1","entity_type":"gene"},{"created":"2022-01-05T13:03:07.772892+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1844","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19558595, 29315490, 31192455, 23974871, 29229434, 33666035; Phenotypes: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508), Keratosis palmoplantaris striata I, AD (MIM# 148700); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"DSG1","entity_type":"gene"},{"created":"2022-01-05T13:02:42.706155+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1414","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:01:47.891235+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28145425, 31353862, 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187), Intellectual disability, Movement disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:00:22.642892+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10493","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNC1 as ready","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:00:22.631433+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10493","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc1 has been classified as Green List (High Evidence).","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T13:00:13.397698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10493","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNC1 were changed from  to Epilepsy, progressive myoclonic 7 (MIM#616187); Intellectual disability; Movement disorders","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T12:59:45.866423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10492","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNC1 were set to 25401298","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T12:59:25.591385+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10491","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Additional individuals reported with different variants, causing a broad range of neurological phenotypes including ID and movement disorders.; to: Additional individuals reported with different variants, causing a broad range of neurological phenotypes including ID and movement disorders.\r\n\r\nLikely reflects different mechanisms (LoF vs GoF).","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T12:58:59.487019+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10491","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28145425, 31353862; Phenotypes: Intellectual disability, Movement disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T12:57:18.361699+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10491","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNC1 were set to ","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T12:56:25.996251+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10490","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T12:55:29.421351+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1844","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KBTBD13 as ready","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2022-01-05T12:55:29.410618+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kbtbd13 has been classified as Red List (Low Evidence).","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2022-01-05T12:55:24.012037+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1844","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KBTBD13 were changed from NEMALINE MYOPATHY 6 to Nemaline myopathy 6, autosomal dominant (MIM#609273)","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2022-01-05T12:55:11.556987+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1843","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KBTBD13 were set to ","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2022-01-05T12:54:59.988006+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1842","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KBTBD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2022-01-05T12:53:46.939156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10489","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JAK3 as ready","entity_name":"JAK3","entity_type":"gene"},{"created":"2022-01-05T12:53:46.929715+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10489","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jak3 has been classified as Green List (High Evidence).","entity_name":"JAK3","entity_type":"gene"},{"created":"2022-01-05T12:53:39.166528+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10489","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JAK3 were changed from  to SCID, autosomal recessive, T-negative/B-positive type MIM# 600802","entity_name":"JAK3","entity_type":"gene"},{"created":"2022-01-05T12:53:26.338599+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1841","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:JAK3 from the panel","entity_name":null,"entity_type":null},{"created":"2022-01-05T12:53:02.868066+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10488","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JAK3 were set to ","entity_name":"JAK3","entity_type":"gene"},{"created":"2022-01-05T12:52:44.009970+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10487","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JAK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JAK3","entity_type":"gene"},{"created":"2022-01-05T12:50:32.022119+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1840","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF1 as ready","entity_name":"GDF1","entity_type":"gene"},{"created":"2022-01-05T12:50:32.004660+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1840","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf1 has been classified as Green List (High Evidence).","entity_name":"GDF1","entity_type":"gene"},{"created":"2022-01-05T12:50:27.458750+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1840","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDF1 were changed from Right atrial isomerism (Ivemark); Congenital heart defects, multiple types to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530","entity_name":"GDF1","entity_type":"gene"},{"created":"2022-01-05T12:50:14.437643+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1839","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GDF1 were set to 17924340; PMID: 20413652; 28991257","entity_name":"GDF1","entity_type":"gene"},{"created":"2022-01-05T12:49:12.691061+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10486","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBE1 as ready","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:49:12.681169+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10486","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gbe1 has been classified as Green List (High Evidence).","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:49:05.338985+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10486","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBE1 were changed from  to Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:48:47.469834+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10485","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GBE1 were set to ","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:48:29.153652+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10484","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:48:10.693218+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10483","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8613547; Phenotypes: Glycogen storage disease IV, MIM# 232500, Polyglucosan body disease, adult form MIM#263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:46:29.016646+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1838","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBE1 as ready","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:46:28.998019+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1838","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gbe1 has been classified as Green List (High Evidence).","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:46:20.792831+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1838","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GBE1 were set to 21620786","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:46:05.364929+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1837","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:46:01.126477+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1837","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GBE1: Added comment: Three unrelated families reported with severe prenatal presentation of this muscle disorder causing fetal akinesia.; Changed rating: GREEN; Changed publications: 30303820; Changed phenotypes: Glycogen storage disease IV, MIM#232500, Fetal akinesia","entity_name":"GBE1","entity_type":"gene"},{"created":"2022-01-05T12:44:21.543796+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1837","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA2 as ready","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-01-05T12:44:21.533981+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1837","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba2 has been classified as Red List (Low Evidence).","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-01-05T12:44:11.782742+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1837","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBA2 were changed from AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. to Spastic paraplegia 46, autosomal recessive, MIM#614409","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-01-05T12:43:58.213988+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1836","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GBA2 as Red List (low evidence)","entity_name":"GBA2","entity_type":"gene"}]}