{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1369","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1367","results":[{"created":"2021-03-28T17:44:13.675192+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1046","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:43:43.061251+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6940","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IER3IP1 as ready","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:43:43.045753+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6940","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ier3ip1 has been classified as Green List (High Evidence).","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:43:36.967019+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6940","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IER3IP1 were changed from  to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:43:17.495051+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6939","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IER3IP1 were set to ","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:42:58.680754+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6938","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IER3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:42:40.053731+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6937","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:41:42.544755+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IER3IP1 as ready","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:41:42.531294+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ier3ip1 has been classified as Green List (High Evidence).","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:41:40.205872+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IER3IP1 were changed from  to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:41:18.351994+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IER3IP1 were set to ","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:40:45.772651+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IER3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:40:18.735032+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IER3IP1: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T17:39:18.510751+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-03-28T10:42:01.726292+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3556","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFTUD2 as ready","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:42:01.714228+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eftud2 has been classified as Green List (High Evidence).","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:41:56.670523+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3556","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFTUD2 were changed from  to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:41:29.242225+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3555","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EFTUD2 were set to ","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:41:03.826303+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3554","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:40:31.030025+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3553","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:40:13.645846+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFTUD2 as ready","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:40:13.633730+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eftud2 has been classified as Green List (High Evidence).","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:40:07.554710+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:39:39.916570+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6937","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFTUD2 as ready","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:39:39.906422+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6937","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eftud2 has been classified as Green List (High Evidence).","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:39:33.373245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6937","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFTUD2 were changed from  to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:39:16.124571+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6936","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EFTUD2 were set to ","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:38:57.918666+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6935","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:38:39.480774+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6934","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:38:00.235703+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFTUD2 as ready","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:38:00.226510+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eftud2 has been classified as Green List (High Evidence).","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:37:53.947433+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFTUD2 were changed from  to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:37:46.595699+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFTUD2 were changed from  to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:37:17.855051+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EFTUD2 were set to ","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:36:50.542660+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:36:25.966204+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:36:20.310064+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.551","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EFTUD2 were set to ","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:35:53.682849+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:35:24.209069+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2021-03-28T10:28:10.432793+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3553","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP152 as ready","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:28:10.421338+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3553","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep152 has been classified as Green List (High Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:28:05.998993+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3553","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP152 were changed from  to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:27:39.346177+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3552","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP152 were set to ","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:27:07.057319+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3551","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:26:39.331803+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3550","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:25:30.914169+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP152 as ready","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:25:30.900157+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep152 has been classified as Red List (Low Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:25:27.966484+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP152 were changed from  to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:25:04.585230+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP152 were set to ","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:24:37.652004+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:24:16.062852+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP152 as Red List (low evidence)","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:24:16.052423+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep152 has been classified as Red List (Low Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:23:51.483237+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Corpus callosum abnoramalities are not a prominent feature of these conditions, rather reduced brain size and simplified gyral pattern.; to: Corpus callosum abnormalities are not a prominent feature of these conditions, rather reduced brain size and simplified gyral pattern.","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:23:42.919147+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:22:23.848097+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6934","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP152 as ready","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:22:23.837510+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6934","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep152 has been classified as Green List (High Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:22:16.373067+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6934","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP152 were changed from  to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:21:52.934467+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6933","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP152 were set to ","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:21:31.875257+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6932","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:21:12.820380+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6931","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:20:40.701853+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome. Gene encodes centriole protein.; to: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. Gene encodes centriole protein.","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:20:06.967990+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP152 as ready","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:20:06.956552+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep152 has been classified as Green List (High Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:20:04.222148+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP152 were changed from  to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:19:34.840899+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.548","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP152 were set to ","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:19:05.554490+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.547","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:18:36.212237+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.546","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-03-28T10:12:08.767462+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.546","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK5RAP2 as ready","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2021-03-28T10:12:08.753939+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.546","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5rap2 has been classified as Green List (High Evidence).","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2021-03-27T14:37:47.426131+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6931","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNPAT as ready","entity_name":"GNPAT","entity_type":"gene"},{"created":"2021-03-27T14:37:47.417038+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6931","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnpat has been classified as Green List (High Evidence).","entity_name":"GNPAT","entity_type":"gene"},{"created":"2021-03-27T14:37:39.137624+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6931","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNPAT were changed from  to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; MONDO:0009112","entity_name":"GNPAT","entity_type":"gene"},{"created":"2021-03-27T14:37:18.493395+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6930","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNPAT were set to ","entity_name":"GNPAT","entity_type":"gene"},{"created":"2021-03-27T14:36:56.474210+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6929","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNPAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPAT","entity_type":"gene"},{"created":"2021-03-27T14:36:39.362482+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6928","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765, MONDO:0009112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPAT","entity_type":"gene"},{"created":"2021-03-27T14:14:49.935241+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3550","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CUL3 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate to Neurodevelopmental disorder with or without autism or seizures, MIM# 619239; Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate","entity_name":"CUL3","entity_type":"gene"},{"created":"2021-03-27T14:14:16.421672+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3549","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without autism or seizures, MIM# 619239; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CUL3","entity_type":"gene"},{"created":"2021-03-27T14:13:50.382456+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1046","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CUL3 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate to Neurodevelopmental disorder with or without autism or seizures, MIM# 619239; Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate","entity_name":"CUL3","entity_type":"gene"},{"created":"2021-03-27T14:13:14.179569+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1045","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CUL3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without autism or seizures 619239; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CUL3","entity_type":"gene"},{"created":"2021-03-27T14:12:38.224846+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6928","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CUL3 were changed from Pseudohypoaldosteronism, type IIE 614496; Intellectual disability; Autism; Seizures to Pseudohypoaldosteronism, type IIE 614496; Neurodevelopmental disorder with or without autism or seizures, MIM#\t619239","entity_name":"CUL3","entity_type":"gene"},{"created":"2021-03-27T14:12:14.204325+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6927","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CUL3: Changed phenotypes: Pseudohypoaldosteronism, type IIE 614496, Neurodevelopmental disorder with or without autism or seizures 619239","entity_name":"CUL3","entity_type":"gene"},{"created":"2021-03-27T14:11:54.946667+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CUL3 were changed from Autism; Intellectual disability; Epilepsy to Neurodevelopmental disorder with or without autism or seizures\t619239","entity_name":"CUL3","entity_type":"gene"},{"created":"2021-03-27T14:11:29.389593+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CUL3: Changed phenotypes: Neurodevelopmental disorder with or without autism or seizures MIM#619239","entity_name":"CUL3","entity_type":"gene"},{"created":"2021-03-27T14:10:11.129156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6927","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD4 as ready","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:10:11.115390+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6927","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd4 has been classified as Green List (High Evidence).","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:05:42.611957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6927","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD4 were changed from  to Immunodeficiency 79, MIM# 619238; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:05:25.132714+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6926","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CD4 were set to ","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:05:06.379495+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6925","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:04:47.193623+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6924","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single individual reported, functional data, emerging gene.; to: Two individuals reported, functional data.","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:04:36.893963+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6924","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD4: Changed rating: GREEN; Changed publications: 31781092, 33471124; Changed phenotypes: Immunodeficiency 79, MIM# 619238, Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:03:53.018543+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD4 were changed from Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts to Immunodeficiency 79, MIM# 619238; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:03:16.298623+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CD4 were set to 31781092","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:02:47.177150+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD4 as Green List (high evidence)","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:02:47.138201+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd4 has been classified as Green List (High Evidence).","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:02:22.422879+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single individual reported, functional data, emerging gene. \nSources: Literature; to: Two individuals reported, functional data. \r\nSources: Literature","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:02:09.700073+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD4: Changed rating: GREEN","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:02:01.739687+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD4: Changed publications: 31781092, 33471124","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T14:01:34.412438+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD4: Changed phenotypes: Immunodeficiency 79, MIM# 619238, Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts","entity_name":"CD4","entity_type":"gene"},{"created":"2021-03-27T13:57:21.400462+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0586 as ready","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-03-27T13:57:21.396000+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name KATNIP","entity_name":"KIAA0586","entity_type":"gene"}]}