{"count":221277,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1934","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1932","results":[{"created":"2020-02-08T12:26:39.707127+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1308","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTS8 as ready","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:26:39.695724+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1308","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints8 has been classified as Red List (Low Evidence).","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:26:27.294090+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1308","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INTS8 were changed from  to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:26:10.167611+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1307","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INTS8 were set to ","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:25:50.762088+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1306","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:25:32.229658+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1305","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INTS8 as Red List (low evidence)","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:25:32.224419+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints8 has been classified as Red List (Low Evidence).","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:25:13.714080+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1304","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:24:35.948220+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTS8 as ready","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:24:35.943279+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints8 has been classified as Red List (Low Evidence).","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:24:26.332044+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INTS8 were changed from  to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:23:54.135993+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INTS8 were set to ","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:23:20.908206+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:22:48.913965+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INTS8 as Red List (low evidence)","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:22:48.909271+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints8 has been classified as Red List (Low Evidence).","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:22:14.365806+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:21:41.528894+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTS8 as ready","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:21:41.523795+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints8 has been classified as Red List (Low Evidence).","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:21:33.321754+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INTS8 were changed from Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:21:00.324212+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INTS8 were changed from  to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:20:32.772283+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INTS8 were set to ","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:20:06.268323+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:19:39.898413+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INTS8 as Red List (low evidence)","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:19:39.892770+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints8 has been classified as Red List (Low Evidence).","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:19:05.121176+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:18:45.333043+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2047","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTS8 as ready","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:18:45.327683+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2047","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints8 has been classified as Red List (Low Evidence).","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:18:20.932687+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2047","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INTS8 were changed from  to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:16:05.723471+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2046","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INTS8 were set to ","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:15:07.321303+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2045","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:14:36.778365+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2044","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INTS8 as Red List (low evidence)","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:14:36.770081+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2044","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints8 has been classified as Red List (Low Evidence).","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T12:13:50.228189+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2043","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS8","entity_type":"gene"},{"created":"2020-02-08T09:18:36.094286+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ZFYVE26 as Green List (high evidence)","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-02-08T09:18:36.075091+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: zfyve26 has been classified as Green List (High Evidence).","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-02-08T09:18:22.995231+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 18394578, 14409555; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-02-08T09:02:25.194047+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SLC7A14 as Red List (low evidence)","entity_name":"SLC7A14","entity_type":"gene"},{"created":"2020-02-08T09:02:25.191972+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: The animal models are compelling, but there currently is limited evidence in humans.","entity_name":"SLC7A14","entity_type":"gene"},{"created":"2020-02-08T09:02:25.164978+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc7a14 has been classified as Red List (Low Evidence).","entity_name":"SLC7A14","entity_type":"gene"},{"created":"2020-02-08T09:01:33.026044+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SLC7A14: Rating: RED; Mode of pathogenicity: None; Publications: 31921845, 30924391, 24670872; Phenotypes: Retinitis pigmentosa 68 MIM#615725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC7A14","entity_type":"gene"},{"created":"2020-02-08T08:16:59.659773+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SAMD11 as Red List (low evidence)","entity_name":"SAMD11","entity_type":"gene"},{"created":"2020-02-08T08:16:59.657651+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Same variant in two families from the same region","entity_name":"SAMD11","entity_type":"gene"},{"created":"2020-02-08T08:16:59.630544+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: samd11 has been classified as Red List (Low Evidence).","entity_name":"SAMD11","entity_type":"gene"},{"created":"2020-02-08T08:16:27.227026+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SAMD11: Rating: RED; Mode of pathogenicity: None; Publications: 27734943; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SAMD11","entity_type":"gene"},{"created":"2020-02-08T08:05:40.514327+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ADIPOR1 as Amber List (moderate evidence)","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-02-08T08:05:40.509368+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Additional cases required to validate the association and confirm the inheritance patterns.","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-02-08T08:05:40.481541+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: adipor1 has been classified as Amber List (Moderate Evidence).","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-02-08T08:04:11.078524+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26662040, 25736573, 30254279, 27655171; Phenotypes: Syndromic retinitis pigmentosa, non-syndromic retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-02-07T22:18:21.745849+11:00","panel_name":"Hyperlipidaemia","panel_id":332,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Hyperlipidaemia_RMH to Hyperlipidaemia\nPanel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-07T21:56:49.632162+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2 MIM#213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMPCA","entity_type":"gene"},{"created":"2020-02-07T21:52:48.949967+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ZNF513 as Amber List (moderate evidence)","entity_name":"ZNF513","entity_type":"gene"},{"created":"2020-02-07T21:52:48.945055+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: znf513 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF513","entity_type":"gene"},{"created":"2020-02-07T21:52:36.017008+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ZNF513: Rating: AMBER; Mode of pathogenicity: None; Publications: 20797688; Phenotypes: ?Retinitis pigmentosa 58 MIM#613617; Mode of inheritance: None","entity_name":"ZNF513","entity_type":"gene"},{"created":"2020-02-07T21:47:26.337231+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24043777; Phenotypes: ?Retinitis pigmentosa 67 MIM#615565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEK2","entity_type":"gene"},{"created":"2020-02-07T21:44:30.137982+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AHR as Amber List (moderate evidence)","entity_name":"AHR","entity_type":"gene"},{"created":"2020-02-07T21:44:30.118652+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ahr has been classified as Amber List (Moderate Evidence).","entity_name":"AHR","entity_type":"gene"},{"created":"2020-02-07T21:44:18.677271+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 29726989; Phenotypes: ?Retinitis pigmentosa 85 MIM#618345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AHR","entity_type":"gene"},{"created":"2020-02-07T21:38:07.152803+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ADGRA3: Rating: RED; Mode of pathogenicity: None; Publications: 23105016; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRA3","entity_type":"gene"},{"created":"2020-02-07T21:32:35.302572+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29271071; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EMC1","entity_type":"gene"},{"created":"2020-02-07T21:20:31.352482+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SCAPER as Green List (high evidence)","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-02-07T21:20:31.347441+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: scaper has been classified as Green List (High Evidence).","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-02-07T21:16:25.146304+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCAPER was added\ngene: SCAPER was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319\nPhenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa MIM#618195\nReview for gene: SCAPER was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-02-07T20:21:18.303882+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EXOSC2 as Green List (high evidence)","entity_name":"EXOSC2","entity_type":"gene"},{"created":"2020-02-07T20:21:18.298946+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: exosc2 has been classified as Green List (High Evidence).","entity_name":"EXOSC2","entity_type":"gene"},{"created":"2020-02-07T20:21:06.250436+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EXOSC2 was added\ngene: EXOSC2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC2 were set to 26843489; 31628467\nPhenotypes for gene: EXOSC2 were set to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies\tMIM#617763\nReview for gene: EXOSC2 was set to GREEN\nAdded comment: 3 patients from 2 unrelated German families with homozygous or compound heterozygous mutations (G30V, G198D), segregated with the disorder in both families. Drosophila model showed the gene is critical for eye development, and was rescued by the normal protein. \nSources: Expert list","entity_name":"EXOSC2","entity_type":"gene"},{"created":"2020-02-07T20:08:30.084775+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CACNA1F as Green List (high evidence)","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2020-02-07T20:08:30.079448+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cacna1f has been classified as Green List (High Evidence).","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2020-02-07T20:08:19.252907+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CACNA1F was added\ngene: CACNA1F was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CACNA1F were set to 26075273; 25999675\nPhenotypes for gene: CACNA1F were set to X-linked retinitis pigmentosa\nReview for gene: CACNA1F was set to GREEN\nAdded comment: Hemizygous variants mainly cause congenital stationary night blindness, cone-rod dystrophy, and Aland Island eye disease. At least 3 unrelated cases/families reported with RP. \nSources: Expert list","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2020-02-07T19:39:49.488864+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH to Autosomal Recessive/X-Linked Retinitis Pigmentosa\nPanel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-07T19:29:07.019581+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-07T19:21:48.094765+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-07T19:21:08.745216+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HARS as Red List (low evidence)","entity_name":"HARS","entity_type":"gene"},{"created":"2020-02-07T19:21:08.739484+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hars has been classified as Red List (Low Evidence).","entity_name":"HARS","entity_type":"gene"},{"created":"2020-02-07T19:10:00.878144+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2020-02-07T19:07:14.988500+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TIMM8A was added\ngene: TIMM8A was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: TIMM8A was set to Unknown","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-02-07T19:07:14.939791+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OFD1 was added\ngene: OFD1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OFD1 were set to Retinitis pigmentosa 23, 300424; Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209; Joubert syndrome 10, 300804","entity_name":"OFD1","entity_type":"gene"},{"created":"2020-02-07T19:07:14.877035+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ZNF423 was added\ngene: ZNF423 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ZNF423","entity_type":"gene"},{"created":"2020-02-07T19:07:14.813271+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WFS1 was added\ngene: WFS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: WFS1 was set to Unknown","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-02-07T19:07:14.750180+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR19 was added\ngene: WDR19 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR19","entity_type":"gene"},{"created":"2020-02-07T19:07:14.687311+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDPCP was added\ngene: WDPCP was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDPCP","entity_type":"gene"},{"created":"2020-02-07T19:07:14.625315+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TUBGCP6 was added\ngene: TUBGCP6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: TUBGCP6 was set to Unknown","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-02-07T19:07:14.560879+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TUBGCP4 was added\ngene: TUBGCP4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: TUBGCP4 was set to Unknown","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-02-07T19:07:14.498887+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TUB was added\ngene: TUB was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: TUB was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUB","entity_type":"gene"},{"created":"2020-02-07T19:07:14.438296+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TTPA was added\ngene: TTPA was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: TTPA was set to Unknown","entity_name":"TTPA","entity_type":"gene"},{"created":"2020-02-07T19:07:14.374753+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TRNT1 was added\ngene: TRNT1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis","entity_name":"TRNT1","entity_type":"gene"},{"created":"2020-02-07T19:07:14.326076+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM237 was added\ngene: TMEM237 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-02-07T19:07:14.265872+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM216 was added\ngene: TMEM216 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: TMEM216 was set to Unknown","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-02-07T19:07:14.205378+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC25A46 was added\ngene: SLC25A46 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: SLC25A46 was set to Unknown","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-02-07T19:07:14.137467+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SDCCAG8 was added\ngene: SDCCAG8 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2020-02-07T19:07:14.078354+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RPGRIP1L was added\ngene: RPGRIP1L was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1L were set to Meckel syndrome 5; Joubert syndrome 7; COACH syndrome","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2020-02-07T19:07:14.014809+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RDH11 was added\ngene: RDH11 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: RDH11 was set to Unknown","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-02-07T19:07:13.954116+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PRPS1 was added\ngene: PRPS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"PRPS1","entity_type":"gene"},{"created":"2020-02-07T19:07:13.893298+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POC1B was added\ngene: POC1B was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POC1B were set to Cone-rod dystrophy 20, 615973","entity_name":"POC1B","entity_type":"gene"},{"created":"2020-02-07T19:07:13.831844+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POC5 was added\ngene: POC5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: POC5 was set to Unknown","entity_name":"POC5","entity_type":"gene"},{"created":"2020-02-07T19:07:13.771377+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PNPLA6 was added\ngene: PNPLA6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PNPLA6 was set to Unknown","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2020-02-07T19:07:13.711458+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PLK4 was added\ngene: PLK4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PLK4 was set to Unknown","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-02-07T19:07:13.664905+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PHYH was added\ngene: PHYH was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHYH were set to Refsum disease","entity_name":"PHYH","entity_type":"gene"},{"created":"2020-02-07T19:07:13.603380+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PEX7 was added\ngene: PEX7 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX7 were set to Refsum disease","entity_name":"PEX7","entity_type":"gene"},{"created":"2020-02-07T19:07:13.542216+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PEX2 was added\ngene: PEX2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX2","entity_type":"gene"},{"created":"2020-02-07T19:07:13.481505+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PEX1 was added\ngene: PEX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX1 were set to Heimler syndrome 1, 234580","entity_name":"PEX1","entity_type":"gene"}]}