{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1272","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1270","results":[{"created":"2021-07-15T11:21:00.831506+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.197","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043417, 19043416; Phenotypes: Reticular dysgenesis MIM# 267500, Combined immunodeficiency, neutropenia, leukopenia, lymphopenia, agranulocytosis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AK2","entity_type":"gene"},{"created":"2021-07-14T22:10:46.809973+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-07-14T22:09:21.962578+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-07-14T22:08:48.935234+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERPING1 as ready","entity_name":"SERPING1","entity_type":"gene"},{"created":"2021-07-14T22:08:48.924481+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serping1 has been classified as Green List (High Evidence).","entity_name":"SERPING1","entity_type":"gene"},{"created":"2021-07-14T22:08:45.920964+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SERPING1 were changed from  to Angioedema, hereditary, 1 and 2, MIM# 106100","entity_name":"SERPING1","entity_type":"gene"},{"created":"2021-07-14T22:08:12.736394+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SERPING1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SERPING1","entity_type":"gene"},{"created":"2021-07-14T22:07:45.180322+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angioedema, hereditary, 1 and 2, MIM# 106100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SERPING1","entity_type":"gene"},{"created":"2021-07-14T22:04:52.027845+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F12 as ready","entity_name":"F12","entity_type":"gene"},{"created":"2021-07-14T22:04:52.018394+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f12 has been classified as Amber List (Moderate Evidence).","entity_name":"F12","entity_type":"gene"},{"created":"2021-07-14T22:04:46.969323+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: F12 were changed from  to Angioedema, hereditary, 3, MIM# 610618","entity_name":"F12","entity_type":"gene"},{"created":"2021-07-14T22:04:21.663929+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: F12 were set to ","entity_name":"F12","entity_type":"gene"},{"created":"2021-07-14T22:03:57.210475+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: F12.","entity_name":"F12","entity_type":"gene"},{"created":"2021-07-14T22:03:50.491335+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: F12 as Amber List (moderate evidence)","entity_name":"F12","entity_type":"gene"},{"created":"2021-07-14T22:03:50.479792+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f12 has been classified as Amber List (Moderate Evidence).","entity_name":"F12","entity_type":"gene"},{"created":"2021-07-14T22:03:19.573928+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: None; Publications: 16638441, 17186468, 19178938; Phenotypes: Angioedema, hereditary, 3, MIM# 610618; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"F12","entity_type":"gene"},{"created":"2021-07-14T20:51:08.322098+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP104 as ready","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-07-14T20:51:08.306847+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep104 has been classified as Red List (Low Evidence).","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-07-14T20:51:05.803489+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP104 were changed from  to Joubert syndrome 25, MIM# 616781; MONDO:0014770","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-07-14T20:50:31.502993+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-07-14T20:49:44.192746+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP104 as Red List (low evidence)","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-07-14T20:49:44.178520+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep104 has been classified as Red List (Low Evidence).","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-07-14T20:49:19.462321+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP104: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 25, MIM# 616781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-07-14T20:44:50.047940+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CC2D2A as ready","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2021-07-14T20:44:50.036349+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cc2d2a has been classified as Green List (High Evidence).","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2021-07-14T20:44:46.899925+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CC2D2A were changed from  to Meckel syndrome 6, MIM# 612284","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2021-07-14T20:44:15.461017+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2021-07-14T20:43:48.580281+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 6, MIM# 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2021-07-14T20:41:45.483141+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BBS2 as ready","entity_name":"BBS2","entity_type":"gene"},{"created":"2021-07-14T20:41:45.472540+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbs2 has been classified as Green List (High Evidence).","entity_name":"BBS2","entity_type":"gene"},{"created":"2021-07-14T20:41:42.599552+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BBS2 were changed from  to Bardet-Biedl syndrome 2, MIM# 615981","entity_name":"BBS2","entity_type":"gene"},{"created":"2021-07-14T20:41:11.386974+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BBS2 were set to ","entity_name":"BBS2","entity_type":"gene"},{"created":"2021-07-14T20:30:31.212565+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS2","entity_type":"gene"},{"created":"2021-07-14T20:30:05.460640+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Renal anomalies reported.","entity_name":"BBS2","entity_type":"gene"},{"created":"2021-07-14T20:28:55.510187+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BBS12 as ready","entity_name":"BBS12","entity_type":"gene"},{"created":"2021-07-14T20:28:55.498831+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbs12 has been classified as Green List (High Evidence).","entity_name":"BBS12","entity_type":"gene"},{"created":"2021-07-14T20:28:52.591221+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BBS12 were changed from  to Bardet-Biedl syndrome 12, MIM# 615989","entity_name":"BBS12","entity_type":"gene"},{"created":"2021-07-14T20:28:22.601994+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BBS12 were set to ","entity_name":"BBS12","entity_type":"gene"},{"created":"2021-07-14T20:25:03.756198+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS12","entity_type":"gene"},{"created":"2021-07-14T20:24:31.658219+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Renal anomalies reported.","entity_name":"BBS12","entity_type":"gene"},{"created":"2021-07-14T20:23:58.312251+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BBS10 as ready","entity_name":"BBS10","entity_type":"gene"},{"created":"2021-07-14T20:23:58.301196+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbs10 has been classified as Green List (High Evidence).","entity_name":"BBS10","entity_type":"gene"},{"created":"2021-07-14T20:23:55.446667+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BBS10 were changed from  to Bardet-Biedl syndrome 10, MIM# 615987","entity_name":"BBS10","entity_type":"gene"},{"created":"2021-07-14T20:23:25.360625+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BBS10 were set to ","entity_name":"BBS10","entity_type":"gene"},{"created":"2021-07-14T20:22:59.520141+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS10","entity_type":"gene"},{"created":"2021-07-14T20:22:34.079811+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients; to: BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients. Renal anomalies, including cysts reported.","entity_name":"BBS10","entity_type":"gene"},{"created":"2021-07-14T18:39:04.992557+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-07-14T18:38:03.705899+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPA1 as ready","entity_name":"OPA1","entity_type":"gene"},{"created":"2021-07-14T18:38:03.694907+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa1 has been classified as Green List (High Evidence).","entity_name":"OPA1","entity_type":"gene"},{"created":"2021-07-14T18:37:58.354810+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPA1 were changed from  to Optic atrophy 1 165500; Optic atrophy plus syndrome, MIM# 125250; Behr syndrome, MIM# 210000","entity_name":"OPA1","entity_type":"gene"},{"created":"2021-07-14T18:37:27.865136+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"OPA1","entity_type":"gene"},{"created":"2021-07-14T18:37:02.316504+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 1 165500, Optic atrophy plus syndrome, MIM# 125250, Behr syndrome, MIM# 210000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"OPA1","entity_type":"gene"},{"created":"2021-07-14T18:35:23.243641+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8326","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM126A as ready","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:35:23.231008+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem126a has been classified as Green List (High Evidence).","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:35:15.715081+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8326","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM126A were changed from  to Optic atrophy 7, MIM# 612989; MONDO:0013069; Syndromic auditory neuropathy spectrum disorder","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:34:29.616321+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8325","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM126A were set to ","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:34:08.651618+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8324","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:33:49.916615+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8323","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19327736, 20405026, 22815638, 33879611, 31119195, 30961538; Phenotypes: Optic atrophy 7, MIM# 612989, MONDO:0013069, Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:32:08.303254+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM126A as ready","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:32:08.292076+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem126a has been classified as Green List (High Evidence).","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:32:05.839587+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM126A were changed from  to Optic atrophy 7, MIM# 612989; MONDO:0013069","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:31:17.613582+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM126A were set to ","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:30:53.630072+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:30:22.716384+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19327736, 20405026, 22815638, 33879611, 31119195, 30961538; Phenotypes: Optic atrophy 7, MIM# 612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2021-07-14T18:21:03.238900+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA5 as ready","entity_name":"SPATA5","entity_type":"gene"},{"created":"2021-07-14T18:21:03.228751+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5 has been classified as Green List (High Evidence).","entity_name":"SPATA5","entity_type":"gene"},{"created":"2021-07-14T18:20:59.348417+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA5 as Green List (high evidence)","entity_name":"SPATA5","entity_type":"gene"},{"created":"2021-07-14T18:20:59.337130+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5 has been classified as Green List (High Evidence).","entity_name":"SPATA5","entity_type":"gene"},{"created":"2021-07-14T16:04:50.496299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8323","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYC as ready","entity_name":"MYC","entity_type":"gene"},{"created":"2021-07-14T16:04:50.485565+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8323","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myc has been classified as Red List (Low Evidence).","entity_name":"MYC","entity_type":"gene"},{"created":"2021-07-14T16:04:43.414076+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8323","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYC were changed from  to Burkitt lymphoma, somatic, MIM# 113970","entity_name":"MYC","entity_type":"gene"},{"created":"2021-07-14T16:04:25.058385+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8322","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYC was changed from Unknown to Other","entity_name":"MYC","entity_type":"gene"},{"created":"2021-07-14T16:04:07.562524+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8321","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYC as Red List (low evidence)","entity_name":"MYC","entity_type":"gene"},{"created":"2021-07-14T16:04:07.552150+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8321","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myc has been classified as Red List (Low Evidence).","entity_name":"MYC","entity_type":"gene"},{"created":"2021-07-14T16:03:51.261338+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8320","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Burkitt lymphoma, somatic, MIM# 113970; Mode of inheritance: Other","entity_name":"MYC","entity_type":"gene"},{"created":"2021-07-14T15:17:27.770164+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.33","user_name":"Elena Savva","item_type":"entity","text":"gene: SPATA5 was added\ngene: SPATA5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5 were set to PMID: 26299366\nPhenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577\nReview for gene: SPATA5 was set to GREEN\nAdded comment: PMID: 26299366 - 12/14 patients presented with microcephaly, incl 4x with congenital microcephaly and another 4 with acquired microcephaly \nSources: Literature","entity_name":"SPATA5","entity_type":"gene"},{"created":"2021-07-14T14:00:27.687405+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-07-14T10:45:23.361447+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-07-14T09:14:27.294498+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3978","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model. \r\nSources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model. \r\nSources: Literature","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:14:07.280142+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8318","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model.\r\nSources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model.\r\nSources: Literature","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:13:42.419863+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3978","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model. \nSources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model. \r\nSources: Literature","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:13:26.484453+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model. \nSources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model. \r\nSources: Literature","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:13:07.261633+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATG7 as ready","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:13:07.250866+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atg7 has been classified as Green List (High Evidence).","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:12:57.536057+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATG7 as Green List (high evidence)","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:12:57.526872+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atg7 has been classified as Green List (High Evidence).","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:12:29.700179+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATG7 was added\ngene: ATG7 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG7 were set to 34161705\nPhenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422\nReview for gene: ATG7 was set to GREEN\nAdded comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model. \nSources: Literature","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:12:18.047799+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3978","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATG7 as ready","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:12:18.035462+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3978","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atg7 has been classified as Green List (High Evidence).","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:11:21.582802+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3978","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATG7 as Green List (high evidence)","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:11:21.573901+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3978","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atg7 has been classified as Green List (High Evidence).","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:10:50.246124+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3977","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATG7 was added\ngene: ATG7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG7 were set to 34161705\nPhenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422\nReview for gene: ATG7 was set to GREEN\nAdded comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model. \nSources: Literature","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:09:32.921287+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATG7 as ready","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:09:32.910706+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atg7 has been classified as Green List (High Evidence).","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:09:29.349928+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATG7 as Green List (high evidence)","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:09:29.334164+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atg7 has been classified as Green List (High Evidence).","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:09:17.528914+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATG7 was added\ngene: ATG7 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG7 were set to 34161705\nPhenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422\nReview for gene: ATG7 was set to GREEN\nAdded comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model. \nSources: Literature","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:08:18.989995+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8318","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk. \nSources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.\r\n\r\nFunctional data including mouse model.\r\nSources: Literature","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:07:59.832108+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8318","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATG7 as ready","entity_name":"ATG7","entity_type":"gene"},{"created":"2021-07-14T09:07:59.822458+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8318","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atg7 has been classified as Green List (High Evidence).","entity_name":"ATG7","entity_type":"gene"}]}