{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1492","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1490","results":[{"created":"2020-11-30T19:27:35.539541+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37408-Loss as ready","entity_name":"ISCA-37408-Loss","entity_type":"region"},{"created":"2020-11-30T19:27:35.530701+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37408-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37408-Loss","entity_type":"region"},{"created":"2020-11-30T19:27:32.615679+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37408-Loss as Green List (high evidence)","entity_name":"ISCA-37408-Loss","entity_type":"region"},{"created":"2020-11-30T19:27:32.604101+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37408-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37408-Loss","entity_type":"region"},{"created":"2020-11-30T19:27:25.043201+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA-37408-Loss was added\nRegion: ISCA-37408-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37408-Loss.\nMode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37408-Loss were set to 25938782; 16963482\nPhenotypes for Region: ISCA-37408-Loss were set to Chromosome 2p16.1-p15 deletion syndrome\t612513; intellectual disability; autism; microcephaly; dysmorphic features\nReview for Region: ISCA-37408-Loss was set to GREEN\nAdded comment: Well established recurrent CNV, deletions are characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. Those with deletions including the BCL11A gene also have persistence of fetal hemoglobin (HbF), which is asymptomatic. \nSources: Expert list","entity_name":"ISCA-37408-Loss","entity_type":"region"},{"created":"2020-11-30T19:16:43.944418+11:00","panel_name":"Incidentalome_PREGEN_DRAFT","panel_id":3437,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to New South Wales Health Pathology","entity_name":null,"entity_type":null},{"created":"2020-11-30T18:53:55.456232+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37406-Loss as ready","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2020-11-30T18:53:55.448227+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37406-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2020-11-30T18:53:47.886060+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to Region: ISCA-37406-Loss.","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2020-11-30T18:53:38.533382+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37406-Loss as Green List (high evidence)","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2020-11-30T18:53:38.520997+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37406-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2020-11-30T18:53:23.796078+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA-37406-Loss was added\nRegion: ISCA-37406-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566\nPhenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome\nReview for Region: ISCA-37406-Loss was set to GREEN\nAdded comment: Well established recurrent CNV. \nSources: Expert list","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2020-11-30T18:40:14.906857+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37405-Loss as ready","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2020-11-30T18:40:14.899239+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37405-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2020-11-30T18:40:08.288310+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37405-Loss as Green List (high evidence)","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2020-11-30T18:40:08.277451+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37405-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2020-11-30T18:39:58.349306+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900\nReview for Region: ISCA-37405-Loss was set to GREEN\nAdded comment: NPHP1 deletions are frequent, and can either be homozygous or compound heterozygous with SNVs, and result in a range of ciliopathies. \nSources: Expert list","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2020-11-30T18:30:43.898539+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal alleles are deleted. \nSources: Expert list; to: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal allele is deleted. \r\nSources: Expert list","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2020-11-30T18:30:27.376812+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of Region: ISCA-37404-Loss: Changed phenotypes: Angelman syndrome, MIM#\t105830, Prader-Willi syndrome, MIM#\t176270","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2020-11-30T18:30:13.804130+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37404-Loss as ready","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2020-11-30T18:30:13.795347+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37404-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2020-11-30T18:30:10.292950+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to Region: ISCA-37404-Loss.","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2020-11-30T18:30:01.677029+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37404-Loss were changed from Angelman syndrome, MIM#\t105830 to Angelman syndrome, MIM#\t105830; Prader-Willi syndrome, MIM#\t176270","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2020-11-30T18:29:49.779896+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37404-Loss as Green List (high evidence)","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2020-11-30T18:29:49.772191+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37404-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2020-11-30T18:29:02.570056+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA-37404-Loss was added\nRegion: ISCA-37404-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37404-Loss were set to 20301323; 20301505\nPhenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM#\t105830\nReview for Region: ISCA-37404-Loss was set to GREEN\nAdded comment: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal alleles are deleted. \nSources: Expert list","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2020-11-30T18:20:59.756916+11:00","panel_name":"Incidentalome_PREGEN_DRAFT","panel_id":3437,"panel_version":"0.2","user_name":"Seb Lunke","item_type":"panel","text":"Panel name changed from Incidentalome_NSW to Incidentalome_PREGEN_DRAFT\nPanel status changed from internal to public\nPanel types changed to ","entity_name":null,"entity_type":null},{"created":"2020-11-30T18:17:24.827446+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37404-Gain as ready","entity_name":"ISCA-37404-Gain","entity_type":"region"},{"created":"2020-11-30T18:17:24.816102+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37404-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37404-Gain","entity_type":"region"},{"created":"2020-11-30T18:17:21.014908+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37404-Gain as Green List (high evidence)","entity_name":"ISCA-37404-Gain","entity_type":"region"},{"created":"2020-11-30T18:17:21.007728+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37404-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37404-Gain","entity_type":"region"},{"created":"2020-11-30T18:17:14.496550+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to Region: ISCA-37404-Gain.","entity_name":"ISCA-37404-Gain","entity_type":"region"},{"created":"2020-11-30T18:17:06.398996+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA-37404-Gain was added\nRegion: ISCA-37404-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37404-Gain were set to 24239951; 24075935\nPhenotypes for Region: ISCA-37404-Gain were set to Chromosome 15q11q13 duplication syndrome; {Autism susceptibility 4}\t608636; intellectual disability; seizures; ataxia\nReview for Region: ISCA-37404-Gain was set to GREEN\nAdded comment: Well established CNV. \nSources: Expert list","entity_name":"ISCA-37404-Gain","entity_type":"region"},{"created":"2020-11-30T16:46:12.929747+11:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KCNJ18 was added\ngene: KCNJ18 was added to Skeletal Muscle Channelopathies. Sources: Expert list\nMode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ18 were set to 25882930; 27178871; 20074522; 27008341\nPhenotypes for gene: KCNJ18 were set to Hypokalemic periodic paralysis; {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239\nReview for gene: KCNJ18 was set to RED\nAdded comment: Single case reported with hypokalemic periodic paralysis without hyperthyroidism with G169R. Unsure, if this variant is specific to KCNJ18 due to high homology with KCNJ12 in this region. \nSources: Expert list","entity_name":"KCNJ18","entity_type":"gene"},{"created":"2020-11-30T16:04:50.245824+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to Region: ISCA-46299-Gain.","entity_name":"ISCA-46299-Gain","entity_type":"region"},{"created":"2020-11-30T16:04:33.251680+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to Region: ISCA-37401-Loss.","entity_name":"ISCA-37401-Loss","entity_type":"region"},{"created":"2020-11-30T16:03:54.032748+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-46299-Gain as ready","entity_name":"ISCA-46299-Gain","entity_type":"region"},{"created":"2020-11-30T16:03:54.022830+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-46299-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-46299-Gain","entity_type":"region"},{"created":"2020-11-30T16:03:49.623673+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-46299-Gain as Green List (high evidence)","entity_name":"ISCA-46299-Gain","entity_type":"region"},{"created":"2020-11-30T16:03:49.613384+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-46299-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-46299-Gain","entity_type":"region"},{"created":"2020-11-30T16:02:13.749920+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.27","user_name":"Elena Savva","item_type":"entity","text":"Region: ISCA-46299-Gain was added\nRegion: ISCA-46299-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-46299-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for Region: ISCA-46299-Gain were set to PMID: 22840365\nPhenotypes for Region: ISCA-46299-Gain were set to Xp11.22 microduplication syndrome MIM#300705\nReview for Region: ISCA-46299-Gain was set to GREEN\nAdded comment: Well known CNV \nSources: Expert list","entity_name":"ISCA-46299-Gain","entity_type":"region"},{"created":"2020-11-30T15:55:45.196585+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37401-Loss as ready","entity_name":"ISCA-37401-Loss","entity_type":"region"},{"created":"2020-11-30T15:55:45.189254+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37401-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37401-Loss","entity_type":"region"},{"created":"2020-11-30T15:55:42.314700+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37401-Loss as Green List (high evidence)","entity_name":"ISCA-37401-Loss","entity_type":"region"},{"created":"2020-11-30T15:55:42.306158+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37401-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37401-Loss","entity_type":"region"},{"created":"2020-11-30T15:55:22.647837+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Region: ISCA-37401-Loss was added\nRegion: ISCA-37401-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, MIM#\t194072\nReview for Region: ISCA-37401-Loss was set to GREEN\nAdded comment: Well established CNV. \nSources: Expert list","entity_name":"ISCA-37401-Loss","entity_type":"region"},{"created":"2020-11-30T15:38:17.434900+11:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: KCNE3 as ready","entity_name":"KCNE3","entity_type":"gene"},{"created":"2020-11-30T15:38:17.412345+11:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kcne3 has been classified as Red List (Low Evidence).","entity_name":"KCNE3","entity_type":"gene"},{"created":"2020-11-30T15:38:07.324370+11:00","panel_name":"Skeletal Muscle Channelopathies","panel_id":302,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KCNE3 was added\ngene: KCNE3 was added to Skeletal Muscle Channelopathies. Sources: Expert list\nMode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNE3 were set to 14504341; 11207363; 16449802; 15037716; 20051516; 28356343\nPhenotypes for gene: KCNE3 were set to Periodic paralysis\nReview for gene: KCNE3 was set to RED\nAdded comment: The originally reported missense (R38H) that segregated with periodic paralysis in 2 families, is too common in gnomAD v2.1 for a variant associated with dominant disease (AF 0.003, 7 homozygotes). Kcne3(-/-) mice do not display periodic paralysis or other obvious skeletal muscle abnormalities. \nSources: Expert list","entity_name":"KCNE3","entity_type":"gene"},{"created":"2020-11-30T12:12:13.788709+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.558","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: COX16 as Amber List (moderate evidence)","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:12:13.781339+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.558","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cox16 has been classified as Amber List (Moderate Evidence).","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:11:48.337419+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.557","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: COX16 as Amber List (moderate evidence)","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:11:48.328977+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.557","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cox16 has been classified as Amber List (Moderate Evidence).","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:11:47.923552+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.556","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: COX16 as ready","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:11:47.907390+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.556","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cox16 has been classified as Red List (Low Evidence).","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:11:10.429981+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.556","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COX16 was added\ngene: COX16 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX16 were set to 33169484\nPhenotypes for gene: COX16 were set to Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis\nReview for gene: COX16 was set to AMBER\nAdded comment: 2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain. \nSources: Literature","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:08:30.573711+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5503","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: COX16 as ready","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:08:30.566060+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5503","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cox16 has been classified as Amber List (Moderate Evidence).","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:08:12.796164+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5503","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: COX16 as Amber List (moderate evidence)","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:08:12.785434+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5503","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cox16 has been classified as Amber List (Moderate Evidence).","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T12:07:17.257202+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5502","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COX16 was added\ngene: COX16 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX16 were set to 33169484\nPhenotypes for gene: COX16 were set to Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis\nReview for gene: COX16 was set to AMBER\nAdded comment: 2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain (RC) \nSources: Literature","entity_name":"COX16","entity_type":"gene"},{"created":"2020-11-30T11:47:53.322137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5501","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: THBD as Green List (high evidence)","entity_name":"THBD","entity_type":"gene"},{"created":"2020-11-30T11:47:53.309165+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5501","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: thbd has been classified as Green List (High Evidence).","entity_name":"THBD","entity_type":"gene"},{"created":"2020-11-30T11:46:45.642623+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.206","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: THBD were set to 25564403; 32634856","entity_name":"THBD","entity_type":"gene"},{"created":"2020-11-30T11:46:44.191938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5500","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32634856, 25564403, 32935436, 25049278, 27436851, 28267383, 10627464; Phenotypes: Thrombomodulin‐associated coagulopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"THBD","entity_type":"gene"},{"created":"2020-11-30T11:45:28.644127+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.205","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: THBD as Green List (high evidence)","entity_name":"THBD","entity_type":"gene"},{"created":"2020-11-30T11:45:28.636083+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.205","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: thbd has been classified as Green List (High Evidence).","entity_name":"THBD","entity_type":"gene"},{"created":"2020-11-30T11:44:31.081125+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.204","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32634856, 25564403, 32935436, 25049278, 27436851, 28267383, 10627464; Phenotypes: Thrombomodulin‐associated coagulopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"THBD","entity_type":"gene"},{"created":"2020-11-29T19:35:08.763485+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5500","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ18 as ready","entity_name":"KCNJ18","entity_type":"gene"},{"created":"2020-11-29T19:35:08.742342+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5500","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj18 has been classified as Red List (Low Evidence).","entity_name":"KCNJ18","entity_type":"gene"},{"created":"2020-11-29T19:34:58.548051+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5500","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ18 was added\ngene: KCNJ18 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ18 were set to 20074522; 27008341\nPhenotypes for gene: KCNJ18 were set to {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM#\t613239\nReview for gene: KCNJ18 was set to RED\nAdded comment: Six variants reported in original publication, however note lack of segregation data and limited functional data. Subsequently, concerns raised about high nucleotide sequence homology between multiple potassium channel genes, with variant misattribution. \nSources: Expert Review","entity_name":"KCNJ18","entity_type":"gene"},{"created":"2020-11-28T16:11:46.088319+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM3 as ready","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:11:46.062181+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm3 has been classified as Green List (High Evidence).","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:11:22.974381+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM3 were changed from  to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:10:59.666175+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM3 were set to ","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:10:31.265792+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:10:02.522368+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:08:59.143597+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5499","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM3 as ready","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:08:59.131171+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5499","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm3 has been classified as Green List (High Evidence).","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:08:52.003109+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5499","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM3 were changed from  to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:08:33.295465+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5498","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM3 were set to ","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:08:14.453418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5497","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:07:55.381011+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5496","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:07:04.924679+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM3 as ready","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:07:04.915997+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm3 has been classified as Green List (High Evidence).","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:07:01.546349+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM3 were changed from  to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:06:33.496626+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM3 were set to ","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:06:06.049496+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T16:05:36.673637+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM3","entity_type":"gene"},{"created":"2020-11-28T15:55:10.383836+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5496","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B3GAT3 as ready","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-11-28T15:55:10.371797+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3gat3 has been classified as Green List (High Evidence).","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-11-28T15:55:02.706134+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5496","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B3GAT3 were changed from  to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-11-28T15:54:41.701390+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5495","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B3GAT3 were set to ","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-11-28T15:54:11.661804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5494","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-11-28T15:53:50.556392+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5493","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26754439, 31988067, 26086840, 25893793, 21763480, 24668659; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-11-28T15:53:10.376812+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B3GAT3 as ready","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-11-28T15:53:10.366394+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3gat3 has been classified as Green List (High Evidence).","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-11-28T15:53:07.220258+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B3GAT3 were changed from  to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-11-28T15:52:40.165050+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B3GAT3 were set to ","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2020-11-28T15:52:10.866630+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"B3GAT3","entity_type":"gene"}]}