{"count":220212,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=870","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=868","results":[{"created":"2022-04-26T20:29:58.933129+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX11B as ready","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:29:58.916389+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex11b has been classified as Green List (High Evidence).","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:29:21.516042+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX11B were changed from  to Peroxisome biogenesis disorder 14B - MIM#614920","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:29:19.445323+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13356","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CLCNKB.","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2022-04-26T20:28:44.861427+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX11B were set to ","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:28:09.249687+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:27:30.703006+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13356","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX11B as ready","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:27:30.698282+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13356","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Two published families and one International.","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:27:30.660477+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13356","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex11b has been classified as Green List (High Evidence).","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:27:25.744199+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:27:09.133430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13356","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX11B were changed from  to Peroxisome biogenesis disorder 14B - MIM#614920","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:26:45.096876+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13355","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX11B were set to ","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:26:06.796285+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13354","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX11B","entity_type":"gene"},{"created":"2022-04-26T20:25:34.613672+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13353","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PER2 as ready","entity_name":"PER2","entity_type":"gene"},{"created":"2022-04-26T20:25:34.591706+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13353","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: per2 has been classified as Red List (Low Evidence).","entity_name":"PER2","entity_type":"gene"},{"created":"2022-04-26T20:25:26.091555+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13353","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PER2 were changed from  to Advanced sleep phase syndrome, familial, 1 - MIM#604348","entity_name":"PER2","entity_type":"gene"},{"created":"2022-04-26T20:25:04.758340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13352","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PER2 were set to ","entity_name":"PER2","entity_type":"gene"},{"created":"2022-04-26T20:24:33.790308+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13351","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PER2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PER2","entity_type":"gene"},{"created":"2022-04-26T20:24:03.345737+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13350","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PER2 as Red List (low evidence)","entity_name":"PER2","entity_type":"gene"},{"created":"2022-04-26T20:24:03.334034+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13350","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: per2 has been classified as Red List (Low Evidence).","entity_name":"PER2","entity_type":"gene"},{"created":"2022-04-26T20:23:27.353703+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4698","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CIT as ready","entity_name":"CIT","entity_type":"gene"},{"created":"2022-04-26T20:23:27.342890+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4698","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cit has been classified as Green List (High Evidence).","entity_name":"CIT","entity_type":"gene"},{"created":"2022-04-26T20:23:17.587796+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4698","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CIT were changed from  to Microcephaly 17, primary, autosomal recessive (MIM#617090)","entity_name":"CIT","entity_type":"gene"},{"created":"2022-04-26T20:22:45.800513+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4697","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CIT were set to ","entity_name":"CIT","entity_type":"gene"},{"created":"2022-04-26T20:22:04.433383+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4696","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CIT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CIT","entity_type":"gene"},{"created":"2022-04-26T20:21:29.497099+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4695","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453578, 27503289, 27453579; Phenotypes: Microcephaly 17, primary, autosomal recessive (MIM#617090); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CIT","entity_type":"gene"},{"created":"2022-04-26T20:18:27.156977+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13349","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDZD7 as ready","entity_name":"PDZD7","entity_type":"gene"},{"created":"2022-04-26T20:18:27.142441+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13349","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdzd7 has been classified as Green List (High Evidence).","entity_name":"PDZD7","entity_type":"gene"},{"created":"2022-04-26T20:18:18.566795+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13349","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDZD7 were changed from  to Deafness, autosomal recessive 57, MIM# 618003; Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472","entity_name":"PDZD7","entity_type":"gene"},{"created":"2022-04-26T20:17:57.703478+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13348","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDZD7 were set to ","entity_name":"PDZD7","entity_type":"gene"},{"created":"2022-04-26T20:17:37.114522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13347","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDZD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDZD7","entity_type":"gene"},{"created":"2022-04-26T20:16:00.955572+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13346","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PDYN: Changed rating: GREEN","entity_name":"PDYN","entity_type":"gene"},{"created":"2022-04-26T20:15:43.144304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13346","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDYN as ready","entity_name":"PDYN","entity_type":"gene"},{"created":"2022-04-26T20:15:43.138212+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13346","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: The presence of some of these variants in the population is concerning. However, functional data also supports gene-disease association.","entity_name":"PDYN","entity_type":"gene"},{"created":"2022-04-26T20:15:43.091456+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13346","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdyn has been classified as Green List (High Evidence).","entity_name":"PDYN","entity_type":"gene"},{"created":"2022-04-26T20:15:15.500235+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13346","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDYN were changed from  to Spinocerebellar ataxia 23 - MIM#610245","entity_name":"PDYN","entity_type":"gene"},{"created":"2022-04-26T20:14:52.767206+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13345","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDYN were set to ","entity_name":"PDYN","entity_type":"gene"},{"created":"2022-04-26T20:14:31.345104+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13344","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDYN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDYN","entity_type":"gene"},{"created":"2022-04-26T20:11:00.674822+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRM2 as ready","entity_name":"CHRM2","entity_type":"gene"},{"created":"2022-04-26T20:11:00.664270+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrm2 has been classified as Red List (Low Evidence).","entity_name":"CHRM2","entity_type":"gene"},{"created":"2022-04-26T20:10:52.878451+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRM2 was added\ngene: CHRM2 was added to Dilated Cardiomyopathy. Sources: Expert Review\nMode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHRM2 were set to 23743182; 18451336\nPhenotypes for gene: CHRM2 were set to Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related\nReview for gene: CHRM2 was set to RED\nAdded comment: 1 family with 12 affecteds (Cys176Gly, absent in gnomad). Proteomics analysis was later conducted\r\n\r\nThis gene has not been curated by the ClinGen DCM expert panel. \nSources: Expert Review","entity_name":"CHRM2","entity_type":"gene"},{"created":"2022-04-26T20:08:02.777069+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHMP4B as ready","entity_name":"CHMP4B","entity_type":"gene"},{"created":"2022-04-26T20:08:02.750872+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chmp4b has been classified as Green List (High Evidence).","entity_name":"CHMP4B","entity_type":"gene"},{"created":"2022-04-26T20:08:00.138027+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHMP4B were changed from  to Cataract 31, multiple types MIM#605387","entity_name":"CHMP4B","entity_type":"gene"},{"created":"2022-04-26T20:07:31.491505+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHMP4B were set to ","entity_name":"CHMP4B","entity_type":"gene"},{"created":"2022-04-26T20:07:01.963467+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHMP4B","entity_type":"gene"},{"created":"2022-04-26T20:06:31.097847+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.324","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHMP4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 34722561, 17701905, 10682967, 30078984; Phenotypes: Cataract 31, multiple types MIM#605387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHMP4B","entity_type":"gene"},{"created":"2022-04-26T19:04:36.634140+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13343","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDGFRA as ready","entity_name":"PDGFRA","entity_type":"gene"},{"created":"2022-04-26T19:04:36.623465+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13343","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfra has been classified as Green List (High Evidence).","entity_name":"PDGFRA","entity_type":"gene"},{"created":"2022-04-26T19:04:28.070319+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13343","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDGFRA were changed from  to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510","entity_name":"PDGFRA","entity_type":"gene"},{"created":"2022-04-26T19:04:07.816493+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13342","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDGFRA were set to ","entity_name":"PDGFRA","entity_type":"gene"},{"created":"2022-04-26T19:03:46.928657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13341","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDGFRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDGFRA","entity_type":"gene"},{"created":"2022-04-26T19:02:26.708497+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13340","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH3 as ready","entity_name":"RSPH3","entity_type":"gene"},{"created":"2022-04-26T19:02:26.698112+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13340","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph3 has been classified as Green List (High Evidence).","entity_name":"RSPH3","entity_type":"gene"},{"created":"2022-04-26T19:02:18.678622+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13340","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH3 were changed from  to Ciliary dyskinesia, primary, 32 MIM#616481","entity_name":"RSPH3","entity_type":"gene"},{"created":"2022-04-26T19:01:58.451193+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13339","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH3 were set to ","entity_name":"RSPH3","entity_type":"gene"},{"created":"2022-04-26T19:01:39.157552+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13338","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH3","entity_type":"gene"},{"created":"2022-04-26T19:01:00.231393+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13337","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EIF2AK2: Changed phenotypes: Dystonia 33, MIM# 619687, Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2022-04-26T18:57:41.638769+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH4A were set to 25789548; 22448264","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-04-26T18:56:45.858085+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13337","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH4A as ready","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-04-26T18:56:45.846610+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13337","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph4a has been classified as Green List (High Evidence).","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-04-26T18:56:37.235933+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13337","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH4A were changed from  to Ciliary dyskinesia, primary, 11, OMIM#612649","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-04-26T18:56:14.019329+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13336","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH4A were set to ","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-04-26T18:55:52.103833+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13335","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-04-26T18:55:19.955817+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH9 were set to 25789548; 31285900","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-04-26T18:54:13.803323+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13334","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH9 as ready","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-04-26T18:54:13.791104+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13334","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph9 has been classified as Green List (High Evidence).","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-04-26T18:54:04.834812+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13334","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH9 were changed from  to Ciliary dyskinesia, primary, 12, MIM#612650","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-04-26T18:53:40.544639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13333","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH9 were set to ","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-04-26T18:53:20.131747+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13332","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-04-26T18:51:54.615231+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13331","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BVES as ready","entity_name":"BVES","entity_type":"gene"},{"created":"2022-04-26T18:51:54.603003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bves has been classified as Green List (High Evidence).","entity_name":"BVES","entity_type":"gene"},{"created":"2022-04-26T18:51:46.205104+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13331","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BVES were changed from  to Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812","entity_name":"BVES","entity_type":"gene"},{"created":"2022-04-26T16:46:56.362001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13330","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FOXA2 were changed from Hyperinsulinaemia to Hyperinsulinism MONDO:0002177","entity_name":"FOXA2","entity_type":"gene"},{"created":"2022-04-26T16:28:13.544805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13329","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BVES were set to ","entity_name":"BVES","entity_type":"gene"},{"created":"2022-04-26T16:25:27.100387+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13328","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BVES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BVES","entity_type":"gene"},{"created":"2022-04-26T16:25:02.039045+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13327","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.\r\n\r\nPMID: 32528171 - 1 patient with limb girdle weakness.\r\n\r\nPMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.; to: PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies: zebrafish model. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.\r\n\r\nPMID: 32528171 - 1 patient with limb girdle weakness.\r\n\r\nPMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.","entity_name":"BVES","entity_type":"gene"},{"created":"2022-04-26T16:23:10.423391+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13327","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642364, 32528171, 31119192; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BVES","entity_type":"gene"},{"created":"2022-04-26T16:07:43.670272+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13327","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Dilated cardiomyopathy MONDO:0005021","entity_name":"FLII","entity_type":"gene"},{"created":"2022-04-26T15:18:26.507890+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13326","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: CLDN19: Changed publications: 17033971, 22422540, 27530400","entity_name":"CLDN19","entity_type":"gene"},{"created":"2022-04-26T15:18:16.534699+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13326","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CLDN19 as ready","entity_name":"CLDN19","entity_type":"gene"},{"created":"2022-04-26T15:18:16.519959+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13326","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cldn19 has been classified as Green List (High Evidence).","entity_name":"CLDN19","entity_type":"gene"},{"created":"2022-04-26T15:18:07.675507+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13326","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CLDN19 were changed from  to Hypomagnesemia 5, renal, with ocular involvement, MIM#248190","entity_name":"CLDN19","entity_type":"gene"},{"created":"2022-04-26T15:17:55.920416+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13325","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CLDN19 were set to ","entity_name":"CLDN19","entity_type":"gene"},{"created":"2022-04-26T15:17:50.943689+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13325","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CLDN19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLDN19","entity_type":"gene"},{"created":"2022-04-26T15:17:34.164727+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13324","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033971, 22422540, 27530400]; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, MIM#248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CLDN19","entity_type":"gene"},{"created":"2022-04-26T15:14:14.419028+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13324","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CLDN16 as ready","entity_name":"CLDN16","entity_type":"gene"},{"created":"2022-04-26T15:14:14.406314+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13324","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cldn16 has been classified as Green List (High Evidence).","entity_name":"CLDN16","entity_type":"gene"},{"created":"2022-04-26T15:14:03.893620+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13324","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CLDN16 were changed from  to Hypomagnesemia 3, renal MIM#248250; amelogenesis imperfecta MONDO#0019507, CLDN16-related","entity_name":"CLDN16","entity_type":"gene"},{"created":"2022-04-26T15:14:02.969514+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13324","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CLDN16 were set to ","entity_name":"CLDN16","entity_type":"gene"},{"created":"2022-04-26T15:13:44.335595+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13324","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CLDN16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLDN16","entity_type":"gene"},{"created":"2022-04-26T15:13:21.259392+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13323","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: None; Publications: 26426912, 16501001, 10878661, 32869508; Phenotypes: Hypomagnesemia 3, renal MIM#248250, amelogenesis imperfecta MONDO#0019507, CLDN16-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CLDN16","entity_type":"gene"},{"created":"2022-04-26T15:07:22.554668+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13323","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CLDN1 as ready","entity_name":"CLDN1","entity_type":"gene"},{"created":"2022-04-26T15:07:22.540970+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13323","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cldn1 has been classified as Green List (High Evidence).","entity_name":"CLDN1","entity_type":"gene"},{"created":"2022-04-26T15:07:05.338039+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13323","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CLDN1 were set to ","entity_name":"CLDN1","entity_type":"gene"},{"created":"2022-04-26T15:07:03.160804+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13324","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CLDN1 were changed from  to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626","entity_name":"CLDN1","entity_type":"gene"},{"created":"2022-04-26T15:06:53.537705+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13323","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CLDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLDN1","entity_type":"gene"},{"created":"2022-04-26T15:06:36.543291+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13322","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12164927, 11889141, 29146216; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CLDN1","entity_type":"gene"},{"created":"2022-04-26T15:05:34.602208+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13322","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CLCNKB as ready","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2022-04-26T15:05:34.584629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13322","user_name":"Ain Roesley","item_type":"entity","text":"Gene: clcnkb has been classified as Green List (High Evidence).","entity_name":"CLCNKB","entity_type":"gene"}]}