{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1463","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1461","results":[{"created":"2020-12-27T16:03:02.705808+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMOC1","entity_type":"gene"},{"created":"2020-12-27T16:02:13.418475+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, MIM# 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMOC1","entity_type":"gene"},{"created":"2020-12-27T15:58:34.554488+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NHS as ready","entity_name":"NHS","entity_type":"gene"},{"created":"2020-12-27T15:58:34.543453+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhs has been classified as Green List (High Evidence).","entity_name":"NHS","entity_type":"gene"},{"created":"2020-12-27T15:58:31.453666+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NHS were changed from  to Nance-Horan syndrome, MIM# 302350","entity_name":"NHS","entity_type":"gene"},{"created":"2020-12-27T15:58:02.950904+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NHS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NHS","entity_type":"gene"},{"created":"2020-12-27T15:57:32.910007+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nance-Horan syndrome, MIM# 302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NHS","entity_type":"gene"},{"created":"2020-12-27T15:56:28.158799+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HESX1 as ready","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-12-27T15:56:28.150303+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hesx1 has been classified as Red List (Low Evidence).","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-12-27T15:56:25.478708+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HESX1 were changed from  to Septooptic dysplasia, MIM# 182230","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-12-27T15:55:57.848501+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HESX1 were set to ","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-12-27T15:55:27.137200+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-12-27T15:55:00.014073+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HESX1 as Red List (low evidence)","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-12-27T15:54:59.998746+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hesx1 has been classified as Red List (Low Evidence).","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-12-27T15:54:32.092993+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HESX1: Rating: RED; Mode of pathogenicity: None; Publications: 11136712; Phenotypes: Septooptic dysplasia, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HESX1","entity_type":"gene"},{"created":"2020-12-27T14:29:31.580617+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5813","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFRP as ready","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:29:31.572706+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5813","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfrp has been classified as Green List (High Evidence).","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:29:15.018532+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5813","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MFRP were changed from  to Microphthalmia, isolated 5, MIM# 611040","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:28:57.132927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5812","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MFRP were set to ","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:28:36.526060+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5811","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:28:18.946889+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5810","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17167404, 18554571, 20361016; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:27:34.495272+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFRP as ready","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:27:34.484303+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfrp has been classified as Green List (High Evidence).","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:27:31.753488+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MFRP were changed from  to Microphthalmia, isolated 5, MIM# 611040","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:27:05.292002+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MFRP were set to ","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:26:37.851644+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:26:03.840757+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17167404, 18554571, 20361016; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MFRP","entity_type":"gene"},{"created":"2020-12-27T14:22:35.935805+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3344","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAB21L2 as ready","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:22:35.923988+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mab21l2 has been classified as Green List (High Evidence).","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:22:31.850175+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3344","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAB21L2 were changed from  to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:21:59.368918+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3343","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAB21L2 were set to ","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:21:17.357415+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3342","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:20:44.670206+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3341","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:20:01.897569+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5810","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAB21L2 as ready","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:20:01.878544+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5810","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mab21l2 has been classified as Green List (High Evidence).","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:19:54.538305+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5810","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAB21L2 were changed from  to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:19:18.909037+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5809","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAB21L2 were set to ","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:18:59.128171+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5808","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:18:32.709055+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5807","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Two individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.; to: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:18:19.332618+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Two individuals with the c.151C > T (p.Arg51Cys) variant also had ID.\r\n\r\nOne family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.\r\n\r\nThree different animal models support gene-disease association.; to: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID.\r\n\r\nOne family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.\r\n\r\nThree different animal models support gene-disease association.","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:15:35.939446+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5807","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:14:43.307015+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAB21L2 as ready","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:14:43.298845+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mab21l2 has been classified as Green List (High Evidence).","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:14:40.488081+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAB21L2 were changed from  to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:14:12.557077+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAB21L2 were set to ","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:13:44.250068+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:13:13.865559+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAB21L2","entity_type":"gene"},{"created":"2020-12-27T14:03:25.487779+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDSS1 as ready","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T14:03:25.477019+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdss1 has been classified as Red List (Low Evidence).","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T14:03:22.840464+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDSS1 were changed from  to Coenzyme Q10 deficiency, primary, 2 MIM#614651","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T14:02:53.566748+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDSS1 were set to ","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T14:02:25.162496+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T14:01:50.514351+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDSS1 as Red List (low evidence)","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T14:01:50.505887+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdss1 has been classified as Red List (Low Evidence).","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T14:01:14.995504+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDSS1: Rating: RED; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:51:12.984440+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3341","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDSS1 as ready","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:51:12.973410+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3341","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdss1 has been classified as Green List (High Evidence).","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:51:08.021261+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3341","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDSS1 were changed from  to Coenzyme Q10 deficiency, primary, 2 MIM#614651","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:50:35.244005+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3340","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDSS1 were set to ","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:49:59.336835+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3339","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:49:07.748008+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5807","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDSS1 as ready","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:49:07.739945+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5807","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdss1 has been classified as Green List (High Evidence).","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:48:59.747413+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5807","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDSS1 were changed from  to Coenzyme Q10 deficiency, primary, 2 MIM#614651","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:48:40.433438+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5806","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDSS1 were set to ","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:48:20.193490+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5805","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:47:53.128817+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.563","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDSS1 as ready","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:47:53.115026+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.563","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdss1 has been classified as Green List (High Evidence).","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:47:49.263109+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.563","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDSS1 were changed from  to Coenzyme Q10 deficiency, primary, 2 MIM#614651","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:47:19.520597+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.562","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDSS1 were set to ","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:46:49.739190+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.561","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T13:37:25.783384+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR1A as ready","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T13:37:25.755957+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1a has been classified as Green List (High Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:56:47.777782+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3338","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T10:54:47.650932+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.560","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T10:50:44.047323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5804","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PDSS1","entity_type":"gene"},{"created":"2020-12-27T10:44:38.208433+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR1A were changed from  to Acrofacial dysostosis, Cincinnati type, MIM# 616462","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:43:06.022315+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLR1A were set to 25913037","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:42:46.666829+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLR1A were set to ","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:42:11.480562+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:41:42.240605+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037; Phenotypes: Acrofacial dysostosis, Cincinnati type, MIM# 616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:39:57.888210+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5804","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR1A as ready","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:39:57.885032+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5804","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Limited evidence for the association between bi-allelic variants and leukodystrophy.","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:39:57.857155+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5804","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1a has been classified as Green List (High Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:39:25.000297+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5804","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR1A were changed from Acrofacial dysostosis, Cincinnati type, (MIM#616462) to Acrofacial dysostosis, Cincinnati type, (MIM#616462); Leukodystrophy","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:38:29.854352+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5803","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR1A were changed from  to Acrofacial dysostosis, Cincinnati type, (MIM#616462)","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:38:07.081690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5802","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLR1A were set to ","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T10:37:47.099896+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5801","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T09:53:22.079139+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5800","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037, 28051070; Phenotypes: Acrofacial dysostosis, Cincinnati type, (MIM#616462); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POLR1A","entity_type":"gene"},{"created":"2020-12-27T09:01:47.181259+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5800","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LOXL3 as ready","entity_name":"LOXL3","entity_type":"gene"},{"created":"2020-12-27T09:01:47.173807+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5800","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxl3 has been classified as Amber List (Moderate Evidence).","entity_name":"LOXL3","entity_type":"gene"},{"created":"2020-12-27T09:01:36.790321+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5800","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LOXL3 as Amber List (moderate evidence)","entity_name":"LOXL3","entity_type":"gene"},{"created":"2020-12-27T09:01:36.782659+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5800","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxl3 has been classified as Amber List (Moderate Evidence).","entity_name":"LOXL3","entity_type":"gene"},{"created":"2020-12-27T09:01:17.096735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5799","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LOXL3 was added\ngene: LOXL3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LOXL3 were set to 30362103; 25663169\nPhenotypes for gene: LOXL3 were set to Stickler syndrome\nReview for gene: LOXL3 was set to AMBER\nAdded comment: Two unrelated families reported with homozygous missense variants, mouse model supports gene-disease association. \nSources: Expert Review","entity_name":"LOXL3","entity_type":"gene"},{"created":"2020-12-24T17:34:25.462028+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMCHD1 as ready","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2020-12-24T17:34:25.446790+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smchd1 has been classified as Green List (High Evidence).","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2020-12-24T17:34:23.165229+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMCHD1 were changed from  to Bosma arhinia microphthalmia syndrome (MIM#603457)","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2020-12-24T17:33:56.025600+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMCHD1 were set to ","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2020-12-24T17:33:31.872101+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SMCHD1 was changed from  to Other","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2020-12-24T17:33:07.844448+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2020-12-24T17:31:23.540240+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5798","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBP4 as ready","entity_name":"RBP4","entity_type":"gene"}]}