{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=868","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=866","results":[{"created":"2022-04-29T18:00:00.515360+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633220, 32705276, 30652268, 20301590, 7479749; Phenotypes: Retinitis pigmentosa 49 MIM#613756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CNGA1","entity_type":"gene"},{"created":"2022-04-29T17:56:12.921343+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13440","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLEC7A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CLEC7A","entity_type":"gene"},{"created":"2022-04-29T15:16:18.582875+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13439","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: APOA5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"APOA5","entity_type":"gene"},{"created":"2022-04-29T15:10:34.279710+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13438","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APOA5 were changed from  to Hyperchylomicronemia, late-onset MIM#144650; {Hypertriglyceridemia, susceptibility to} MIM#145750","entity_name":"APOA5","entity_type":"gene"},{"created":"2022-04-29T15:10:29.972744+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13438","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APOA5 were set to PMID: 19447388; 16200213; 11588264","entity_name":"APOA5","entity_type":"gene"},{"created":"2022-04-29T15:10:23.313283+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13438","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APOA5 were set to ","entity_name":"APOA5","entity_type":"gene"},{"created":"2022-04-29T15:10:19.773951+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13438","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: APOA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APOA5","entity_type":"gene"},{"created":"2022-04-29T15:08:31.663526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13437","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APOA5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19447388, 16200213, 11588264; Phenotypes: Hyperchylomicronemia, late-onset MIM#144650, {Hypertriglyceridemia, susceptibility to} MIM#145750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APOA5","entity_type":"gene"},{"created":"2022-04-29T14:15:14.984706+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13437","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: APOA2 as ready","entity_name":"APOA2","entity_type":"gene"},{"created":"2022-04-29T14:15:14.972299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13437","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoa2 has been classified as Red List (Low Evidence).","entity_name":"APOA2","entity_type":"gene"},{"created":"2022-04-29T13:51:42.170708+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13437","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APOA2 were changed from  to Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890","entity_name":"APOA2","entity_type":"gene"},{"created":"2022-04-29T13:51:41.512777+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13437","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: APOA2 were set to ","entity_name":"APOA2","entity_type":"gene"},{"created":"2022-04-29T13:51:32.531930+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13436","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: APOA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"APOA2","entity_type":"gene"},{"created":"2022-04-29T13:51:30.270415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13436","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: APOA2 as Red List (low evidence)","entity_name":"APOA2","entity_type":"gene"},{"created":"2022-04-29T13:51:30.259944+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13436","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoa2 has been classified as Red List (Low Evidence).","entity_name":"APOA2","entity_type":"gene"},{"created":"2022-04-29T13:43:29.713213+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13435","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APOA2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12522687, 2107739, 25904114; Phenotypes: Apolipoprotein A-II deficiency, {Hypercholesterolemia, familial, modifier of} MIM#143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"APOA2","entity_type":"gene"},{"created":"2022-04-29T12:56:35.673434+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13435","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: APOA1 as ready","entity_name":"APOA1","entity_type":"gene"},{"created":"2022-04-29T12:56:35.661423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13435","user_name":"Elena Savva","item_type":"entity","text":"Gene: apoa1 has been classified as Green List (High Evidence).","entity_name":"APOA1","entity_type":"gene"},{"created":"2022-04-29T12:53:27.290239+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13435","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: APOA1 were changed from  to Amyloidosis, 3 or more types MIM#105200; Hypoalphalipoproteinemia, primary, 2 MIM#618463; Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836","entity_name":"APOA1","entity_type":"gene"},{"created":"2022-04-29T12:53:16.212487+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13435","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: APOA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"APOA1","entity_type":"gene"},{"created":"2022-04-29T12:52:18.212574+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13434","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, 3 or more types MIM#105200, Hypoalphalipoproteinemia, primary, 2 MIM#618463, Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"APOA1","entity_type":"gene"},{"created":"2022-04-29T12:40:07.412899+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13434","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AP1S2 as ready","entity_name":"AP1S2","entity_type":"gene"},{"created":"2022-04-29T12:40:07.401039+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13434","user_name":"Elena Savva","item_type":"entity","text":"Gene: ap1s2 has been classified as Green List (High Evidence).","entity_name":"AP1S2","entity_type":"gene"},{"created":"2022-04-29T12:37:45.884408+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13434","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AP1S2 were changed from  to Mental retardation, X-linked syndromic 5, MIM#304340","entity_name":"AP1S2","entity_type":"gene"},{"created":"2022-04-29T12:37:33.216186+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13433","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AP1S2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AP1S2","entity_type":"gene"},{"created":"2022-04-29T12:18:33.823582+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.61","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APCDD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22512811; Phenotypes: Hypotrichosis 1 MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APCDD1","entity_type":"gene"},{"created":"2022-04-29T11:56:20.905302+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13432","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APCDD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22512811; Phenotypes: Hypotrichosis 1 MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APCDD1","entity_type":"gene"},{"created":"2022-04-29T11:34:04.343158+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13432","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-04-29T11:21:26.181256+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13431","user_name":"Elena Savva","item_type":"entity","text":"Mode of pathogenicity for gene: ANO10 was changed from  to None","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-04-29T11:21:15.680395+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13430","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ANO10 were changed from  to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-04-29T11:21:00.945637+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13430","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ANO10 as ready","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-04-29T11:21:00.929191+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13430","user_name":"Elena Savva","item_type":"entity","text":"Gene: ano10 has been classified as Green List (High Evidence).","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-04-29T11:20:56.710893+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13430","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ANO10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-04-28T22:05:59.722357+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444792; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880, Neuroblastoma with Hirschsprung disease - MIM#613013; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PHOX2B","entity_type":"gene"},{"created":"2022-04-28T21:57:50.876645+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717447, 15858711, 17336976; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, Peroxisome biogenesis disorder 7B - MIM#614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX26","entity_type":"gene"},{"created":"2022-04-28T21:54:41.073300+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14630978, 10528859, 23430938, 1546315; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866, Peroxisome biogenesis disorder 5B - MIM#614867; Mode of inheritance: None","entity_name":"PEX2","entity_type":"gene"},{"created":"2022-04-28T21:51:00.468680+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051604, 20683989, 11883941, 28391327; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX19","entity_type":"gene"},{"created":"2022-04-28T21:42:40.317261+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 20647552, 12223482, 9837814, 11890679; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) - MIM#614876, Peroxisome biogenesis disorder 8B - MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX16","entity_type":"gene"},{"created":"2022-04-28T21:39:41.712252+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285423, 26627464, 21686775, 15146459; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger) - MIM#614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX14","entity_type":"gene"},{"created":"2022-04-28T21:31:04.697844+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger) - MIM#614883, Peroxisome biogenesis disorder 11B - MIM#614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX13","entity_type":"gene"},{"created":"2022-04-28T21:29:06.729624+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859, Peroxisome biogenesis disorder 3B - MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX12","entity_type":"gene"},{"created":"2022-04-28T09:47:03.202936+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ETFDH as ready","entity_name":"ETFDH","entity_type":"gene"},{"created":"2022-04-28T09:47:03.169578+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: etfdh has been classified as Green List (High Evidence).","entity_name":"ETFDH","entity_type":"gene"},{"created":"2022-04-28T09:45:44.451678+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ETFDH as Green List (high evidence)","entity_name":"ETFDH","entity_type":"gene"},{"created":"2022-04-28T09:45:44.439261+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: etfdh has been classified as Green List (High Evidence).","entity_name":"ETFDH","entity_type":"gene"},{"created":"2022-04-28T09:45:15.959931+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.124","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ETFDH was added\ngene: ETFDH was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFDH were set to 32608139; 35309592; 26821934\nPhenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; sensory neuropathy\nReview for gene: ETFDH was set to GREEN\ngene: ETFDH was marked as current diagnostic\nAdded comment: Sensory neuropathy can be a feature of the condition. >10 cases with biallelic variants has been reported with sensory neuropathy confirmed with nerve conduction studies. \nSources: Literature","entity_name":"ETFDH","entity_type":"gene"},{"created":"2022-04-28T08:59:34.966804+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DIO1 as ready","entity_name":"DIO1","entity_type":"gene"},{"created":"2022-04-28T08:59:34.953651+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dio1 has been classified as Amber List (Moderate Evidence).","entity_name":"DIO1","entity_type":"gene"},{"created":"2022-04-28T08:59:25.636666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13429","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DIO1 were changed from  to Thyroid hormone metabolism, abnormal, 2, MIM# 619855","entity_name":"DIO1","entity_type":"gene"},{"created":"2022-04-28T08:59:04.459938+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13428","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DIO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DIO1","entity_type":"gene"},{"created":"2022-04-28T08:58:44.964302+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13427","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DIO1 as Amber List (moderate evidence)","entity_name":"DIO1","entity_type":"gene"},{"created":"2022-04-28T08:58:44.950894+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dio1 has been classified as Amber List (Moderate Evidence).","entity_name":"DIO1","entity_type":"gene"},{"created":"2022-04-28T08:58:26.143247+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13426","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DIO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone metabolism, abnormal, 2, MIM# 619855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DIO1","entity_type":"gene"},{"created":"2022-04-28T08:55:13.462750+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBA8 as ready","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:55:13.450987+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Amber List (Moderate Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:55:08.903815+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBA8 as Amber List (moderate evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:55:08.891852+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Amber List (Moderate Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:54:35.055983+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBA8 was added\ngene: TUBA8 was added to Bleeding and Platelet Disorders. Sources: Expert list\nMode of inheritance for gene: TUBA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA8 were set to 34704371\nPhenotypes for gene: TUBA8 were set to Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840\nReview for gene: TUBA8 was set to AMBER\nAdded comment: 6 unrelated individuals with missense variants found in a large cohort of blood donors, some functional data. Individuals were generally asymptomatic, one had menorrhagia. \nSources: Expert list","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:52:21.381566+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13426","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 to Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:51:53.493548+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13425","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA8 were set to 19896110; 31481326; 28388629","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:51:26.136733+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13424","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBA8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:51:06.535620+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13423","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBA8 as Amber List (moderate evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:51:06.519260+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Amber List (Moderate Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:50:42.799494+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13422","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families reported initially (PMID 19896110). However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).; to: Bi-allelic variants and cortical dysplasia: Two families reported initially (PMID 19896110). However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:50:23.116642+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13422","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TUBA8: Added comment: Mono-allelic variants and macrothrombocytopaenia: 6 unrelated individuals with missense variants found in a large cohort of blood donors, some functional data. Individuals were generally asymptomatic.; Changed rating: AMBER; Changed publications: 34704371; Changed phenotypes: Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-04-28T08:45:58.142136+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4705","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NRCAM were changed from Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833 to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833","entity_name":"NRCAM","entity_type":"gene"},{"created":"2022-04-28T08:45:36.637202+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4705","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NRCAM were changed from neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833","entity_name":"NRCAM","entity_type":"gene"},{"created":"2022-04-28T08:45:00.484252+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4704","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NRCAM","entity_type":"gene"},{"created":"2022-04-28T08:44:15.814763+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13422","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NRCAM were changed from neurodevelopmental disorder, NRCAM-related, MONDO:0700092 to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833","entity_name":"NRCAM","entity_type":"gene"},{"created":"2022-04-28T08:43:04.409580+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13421","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NRCAM","entity_type":"gene"},{"created":"2022-04-28T08:41:54.415682+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4704","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDC42BPB were changed from Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2022-04-28T08:41:18.098659+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4703","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDC42BPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2022-04-28T08:40:36.931135+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1576","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDC42BPB were changed from Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2022-04-28T08:39:57.394752+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1575","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CDC42BPB: Changed rating: AMBER; Changed phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2022-04-28T08:39:09.076699+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13421","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDC42BPB were changed from Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2022-04-28T08:38:42.808963+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13420","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CDC42BPB: Changed phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2022-04-28T08:18:07.115696+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.25","user_name":"Shekeeb Mohammad","item_type":"entity","text":"reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35471564; Phenotypes: spastic paraplegia, intellectual disability, white matter abnormalities on MRI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ENTPD1","entity_type":"gene"},{"created":"2022-04-28T07:48:04.413925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13420","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX3 as ready","entity_name":"PEX3","entity_type":"gene"},{"created":"2022-04-28T07:48:04.403687+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13420","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex3 has been classified as Green List (High Evidence).","entity_name":"PEX3","entity_type":"gene"},{"created":"2022-04-28T07:47:53.216008+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13420","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX3 were changed from  to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370","entity_name":"PEX3","entity_type":"gene"},{"created":"2022-04-28T07:47:29.969127+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13419","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX3 were set to ","entity_name":"PEX3","entity_type":"gene"},{"created":"2022-04-28T07:47:05.444370+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13418","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX3","entity_type":"gene"},{"created":"2022-04-28T07:46:42.696349+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13417","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942428, 10958759, 10968777, 27557811, 33101983; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882, Peroxisome biogenesis disorder 10B , MIM# 617370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX3","entity_type":"gene"},{"created":"2022-04-28T07:36:12.529393+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX5 as ready","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:36:12.513784+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex5 has been classified as Green List (High Evidence).","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:36:04.430824+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX5 were changed from  to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370; Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:33:38.081422+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX5 were set to ","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:33:01.442595+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:32:23.750851+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7719337, 26220973, 20301621; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110, Peroxisome biogenesis disorder 2B, MIM# 202370, Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:31:06.925901+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13417","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX5 as ready","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:31:06.909017+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex5 has been classified as Green List (High Evidence).","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:30:57.269150+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX5 were changed from  to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370; Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:29:58.150312+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13416","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX5 were set to ","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:29:37.890878+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13415","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:29:18.217155+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13414","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7719337, 26220973, 20301621; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110, Peroxisome biogenesis disorder 2B, MIM# 202370, Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-04-28T07:22:20.474819+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX7 as ready","entity_name":"PEX7","entity_type":"gene"},{"created":"2022-04-28T07:22:20.465031+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex7 has been classified as Green List (High Evidence).","entity_name":"PEX7","entity_type":"gene"},{"created":"2022-04-28T07:20:18.528419+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX7 were changed from  to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100","entity_name":"PEX7","entity_type":"gene"},{"created":"2022-04-28T07:19:42.720138+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX7 were set to ","entity_name":"PEX7","entity_type":"gene"},{"created":"2022-04-28T07:19:05.104391+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX7","entity_type":"gene"}]}