{"count":220821,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=731","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=729","results":[{"created":"2022-10-06T11:19:20.354113+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mkks has been classified as Red List (Low Evidence).","entity_name":"MKKS","entity_type":"gene"},{"created":"2022-10-06T11:19:09.137016+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome, MIM# 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKKS","entity_type":"gene"},{"created":"2022-10-06T11:17:45.420138+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMB3 as ready","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-10-06T11:17:45.410591+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb3 has been classified as Red List (Low Evidence).","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-10-06T11:17:41.202956+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-10-06T11:17:28.351831+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-10-06T11:17:17.909926+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMB3 as Red List (low evidence)","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-10-06T11:17:17.900551+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb3 has been classified as Red List (Low Evidence).","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-10-06T11:16:42.493229+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA2 as ready","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-10-06T11:16:42.484120+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama2 has been classified as Red List (Low Evidence).","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-10-06T11:16:38.733175+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-10-06T11:16:26.986909+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMA2 as Red List (low evidence)","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-10-06T11:16:26.977953+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama2 has been classified as Red List (Low Evidence).","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-10-06T11:15:45.868277+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MITF as ready","entity_name":"MITF","entity_type":"gene"},{"created":"2022-10-06T11:15:45.859110+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mitf has been classified as Green List (High Evidence).","entity_name":"MITF","entity_type":"gene"},{"created":"2022-10-06T11:15:42.432020+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MITF were changed from Waardenburg syndrome to Waardenburg syndrome, type 2A, MIM# 193510; Deafness","entity_name":"MITF","entity_type":"gene"},{"created":"2022-10-06T11:15:27.479677+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.332","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MITF","entity_type":"gene"},{"created":"2022-10-06T11:15:12.820570+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MITF","entity_type":"gene"},{"created":"2022-10-06T11:12:47.386519+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MGP as ready","entity_name":"MGP","entity_type":"gene"},{"created":"2022-10-06T11:12:47.373394+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mgp has been classified as Red List (Low Evidence).","entity_name":"MGP","entity_type":"gene"},{"created":"2022-10-06T11:12:43.884507+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MGP were changed from Keutel syndrome to Keutel syndrome, MIM #245150","entity_name":"MGP","entity_type":"gene"},{"created":"2022-10-06T11:12:31.491318+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MGP as Red List (low evidence)","entity_name":"MGP","entity_type":"gene"},{"created":"2022-10-06T11:12:31.482826+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mgp has been classified as Red List (Low Evidence).","entity_name":"MGP","entity_type":"gene"},{"created":"2022-10-06T11:12:20.199940+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, MIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MGP","entity_type":"gene"},{"created":"2022-10-06T11:11:24.690406+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MGAT2 as ready","entity_name":"MGAT2","entity_type":"gene"},{"created":"2022-10-06T11:11:24.682212+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mgat2 has been classified as Red List (Low Evidence).","entity_name":"MGAT2","entity_type":"gene"},{"created":"2022-10-06T11:11:14.129736+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MGAT2 as Red List (low evidence)","entity_name":"MGAT2","entity_type":"gene"},{"created":"2022-10-06T11:11:14.119221+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mgat2 has been classified as Red List (Low Evidence).","entity_name":"MGAT2","entity_type":"gene"},{"created":"2022-10-06T11:11:02.309643+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MGAT2","entity_type":"gene"},{"created":"2022-10-06T11:04:11.906033+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFSD8 as ready","entity_name":"MFSD8","entity_type":"gene"},{"created":"2022-10-06T11:04:11.890967+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfsd8 has been classified as Red List (Low Evidence).","entity_name":"MFSD8","entity_type":"gene"},{"created":"2022-10-06T11:04:05.962892+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951","entity_name":"MFSD8","entity_type":"gene"},{"created":"2022-10-06T11:03:50.352673+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MFSD8 were set to ","entity_name":"MFSD8","entity_type":"gene"},{"created":"2022-10-06T11:02:12.573175+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MFSD8 as Red List (low evidence)","entity_name":"MFSD8","entity_type":"gene"},{"created":"2022-10-06T11:02:12.564238+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfsd8 has been classified as Red List (Low Evidence).","entity_name":"MFSD8","entity_type":"gene"},{"created":"2022-10-06T11:02:01.256192+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: 31597037; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MFSD8","entity_type":"gene"},{"created":"2022-10-06T10:59:44.624664+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFN2 as ready","entity_name":"MFN2","entity_type":"gene"},{"created":"2022-10-06T10:59:44.615586+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfn2 has been classified as Red List (Low Evidence).","entity_name":"MFN2","entity_type":"gene"},{"created":"2022-10-06T10:59:41.329460+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152","entity_name":"MFN2","entity_type":"gene"},{"created":"2022-10-06T10:56:59.749425+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.324","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MFN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MFN2","entity_type":"gene"},{"created":"2022-10-06T10:56:49.321484+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.323","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MFN2 as Red List (low evidence)","entity_name":"MFN2","entity_type":"gene"},{"created":"2022-10-06T10:56:49.313239+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.323","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfn2 has been classified as Red List (Low Evidence).","entity_name":"MFN2","entity_type":"gene"},{"created":"2022-10-06T10:56:39.213348+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087, Hereditary motor and sensory neuropathy VIA, OMIM #601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MFN2","entity_type":"gene"},{"created":"2022-10-06T10:55:46.889147+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEN1 as ready","entity_name":"MEN1","entity_type":"gene"},{"created":"2022-10-06T10:55:46.877548+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: men1 has been classified as Green List (High Evidence).","entity_name":"MEN1","entity_type":"gene"},{"created":"2022-10-06T10:55:43.083234+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia I to Multiple endocrine neoplasia 1, MIM#131100","entity_name":"MEN1","entity_type":"gene"},{"created":"2022-10-06T10:55:26.938165+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.321","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: MEN1.","entity_name":"MEN1","entity_type":"gene"},{"created":"2022-10-06T10:55:16.494333+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.321","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM#131100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MEN1","entity_type":"gene"},{"created":"2022-10-06T10:54:08.453205+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.321","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEGF10 as ready","entity_name":"MEGF10","entity_type":"gene"},{"created":"2022-10-06T10:54:08.445226+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.321","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: megf10 has been classified as Red List (Low Evidence).","entity_name":"MEGF10","entity_type":"gene"},{"created":"2022-10-06T10:54:00.746731+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.321","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399","entity_name":"MEGF10","entity_type":"gene"},{"created":"2022-10-06T10:53:46.300301+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MEGF10 as Red List (low evidence)","entity_name":"MEGF10","entity_type":"gene"},{"created":"2022-10-06T10:53:46.291567+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: megf10 has been classified as Red List (Low Evidence).","entity_name":"MEGF10","entity_type":"gene"},{"created":"2022-10-06T10:53:34.251225+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MEGF10","entity_type":"gene"},{"created":"2022-10-06T10:52:44.861863+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEFV as ready","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-10-06T10:52:44.849861+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mefv has been classified as Green List (High Evidence).","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-10-06T10:48:36.190343+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MEFV were changed from Mediterranean fever, familial to Familial Mediterranean fever MIM# 249100","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-10-06T10:48:23.111262+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: MEFV.","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-10-06T10:48:13.792267+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever MIM# 249100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-10-06T10:46:00.786172+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MED25 as ready","entity_name":"MED25","entity_type":"gene"},{"created":"2022-10-06T10:46:00.775038+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med25 has been classified as Red List (Low Evidence).","entity_name":"MED25","entity_type":"gene"},{"created":"2022-10-06T10:45:50.862011+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MED25 as Red List (low evidence)","entity_name":"MED25","entity_type":"gene"},{"created":"2022-10-06T10:45:50.853654+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med25 has been classified as Red List (Low Evidence).","entity_name":"MED25","entity_type":"gene"},{"created":"2022-10-06T10:45:38.926154+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MED25","entity_type":"gene"},{"created":"2022-10-06T10:44:47.982993+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MED12 as ready","entity_name":"MED12","entity_type":"gene"},{"created":"2022-10-06T10:44:47.974642+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med12 has been classified as Red List (Low Evidence).","entity_name":"MED12","entity_type":"gene"},{"created":"2022-10-06T10:44:43.880223+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MED12 were changed from Intellectual disability to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, MIM# 301068","entity_name":"MED12","entity_type":"gene"},{"created":"2022-10-06T10:44:26.973664+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MED12 as Red List (low evidence)","entity_name":"MED12","entity_type":"gene"},{"created":"2022-10-06T10:44:26.958218+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med12 has been classified as Red List (Low Evidence).","entity_name":"MED12","entity_type":"gene"},{"created":"2022-10-06T10:44:14.951515+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ohdo syndrome, X-linked MIM#300895, Lujan-Fryns syndrome MIM#309520, Opitz-Kaveggia syndrome MIM#305450, Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MED12","entity_type":"gene"},{"created":"2022-10-06T10:42:56.440200+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MECP2 as ready","entity_name":"MECP2","entity_type":"gene"},{"created":"2022-10-06T10:42:56.431623+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mecp2 has been classified as Red List (Low Evidence).","entity_name":"MECP2","entity_type":"gene"},{"created":"2022-10-06T10:42:50.942847+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MECP2 were changed from Rett syndrome to MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055","entity_name":"MECP2","entity_type":"gene"},{"created":"2022-10-06T10:42:38.671361+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.314","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"MECP2","entity_type":"gene"},{"created":"2022-10-06T10:42:27.409769+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MECP2 as Red List (low evidence)","entity_name":"MECP2","entity_type":"gene"},{"created":"2022-10-06T10:42:27.400837+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mecp2 has been classified as Red List (Low Evidence).","entity_name":"MECP2","entity_type":"gene"},{"created":"2022-10-06T10:42:16.103504+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055; 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":"MECP2","entity_type":"gene"},{"created":"2022-10-06T10:41:15.706500+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCPH1 as ready","entity_name":"MCPH1","entity_type":"gene"},{"created":"2022-10-06T10:41:15.698194+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcph1 has been classified as Red List (Low Evidence).","entity_name":"MCPH1","entity_type":"gene"},{"created":"2022-10-06T10:41:11.985601+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive to Microcephaly 1, primary, autosomal recessive, MIM# 251200","entity_name":"MCPH1","entity_type":"gene"},{"created":"2022-10-06T10:40:54.706271+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCPH1","entity_type":"gene"},{"created":"2022-10-06T10:40:27.460831+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCPH1 as Red List (low evidence)","entity_name":"MCPH1","entity_type":"gene"},{"created":"2022-10-06T10:40:27.451653+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcph1 has been classified as Red List (Low Evidence).","entity_name":"MCPH1","entity_type":"gene"},{"created":"2022-10-06T10:39:38.464430+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEFV as ready","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-10-06T10:39:38.456193+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mefv has been classified as Amber List (Moderate Evidence).","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-10-06T10:38:54.016134+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COQ8B as ready","entity_name":"COQ8B","entity_type":"gene"},{"created":"2022-10-06T10:38:54.006490+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq8b has been classified as Green List (High Evidence).","entity_name":"COQ8B","entity_type":"gene"},{"created":"2022-10-06T10:38:45.463642+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: COQ8B.","entity_name":"COQ8B","entity_type":"gene"},{"created":"2022-10-06T10:38:36.195913+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COQ8B","entity_type":"gene"},{"created":"2022-10-06T10:31:19.345080+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COQ8A as ready","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-10-06T10:31:19.336736+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq8a has been classified as Green List (High Evidence).","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-10-06T10:31:15.449281+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COQ8A were set to ","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-10-06T10:30:54.957276+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ8A.","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-10-06T10:30:38.014337+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ8A.","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-10-06T10:30:19.526624+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ8A.","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-10-06T10:30:00.288147+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4959","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ8A.","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-10-06T10:29:42.831327+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ8A.","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-10-06T10:29:25.876591+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.836","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ8A.","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-10-06T10:29:00.385020+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ8A.","entity_name":"COQ8A","entity_type":"gene"},{"created":"2022-10-06T10:28:40.138833+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ8A.","entity_name":"COQ8A","entity_type":"gene"}]}