{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1315","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1313","results":[{"created":"2021-06-01T19:20:49.356000+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3B1 were set to ","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:20:21.552941+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:19:56.563633+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:19:12.459763+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP3B1 as ready","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:19:12.444612+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3b1 has been classified as Green List (High Evidence).","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:19:05.288540+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7743","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP3B1 as ready","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:19:05.277585+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7743","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3b1 has been classified as Green List (High Evidence).","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:18:57.162289+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7743","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP3B1 were changed from  to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:16:20.242726+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7742","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3B1 were set to ","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:16:00.693365+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7741","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:15:43.501934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7740","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:15:33.650515+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP3B1 were changed from  to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:15:03.339693+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:14:43.924046+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3B1 were set to ","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:14:01.190904+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T19:13:37.054395+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-06-01T13:21:48.914483+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:TGFBR3 from the panel","entity_name":null,"entity_type":null},{"created":"2021-06-01T11:20:51.552504+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHCGR as ready","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:20:51.542422+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhcgr has been classified as Green List (High Evidence).","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:20:48.959256+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHCGR were changed from  to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:20:36.147742+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LHCGR were set to ","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:20:24.106324+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LHCGR was changed from  to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:20:12.857483+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11041448; Phenotypes: Luteinizing hormone resistance, female, (MIM#238320), Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320), Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:18:39.136696+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHCGR as ready","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:18:39.127878+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhcgr has been classified as Green List (High Evidence).","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:18:36.013189+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHCGR were changed from  to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320); Precocious puberty, male, (MIM#176410)","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:18:05.421117+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LHCGR were set to ","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:17:35.544265+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LHCGR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:17:10.479775+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11041448; Phenotypes: Luteinizing hormone resistance, female, (MIM#238320), Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320), Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320), Precocious puberty, male, (MIM#176410); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:16:13.032699+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7740","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHCGR as ready","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:16:13.020772+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7740","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhcgr has been classified as Green List (High Evidence).","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:16:04.720511+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7740","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHCGR were changed from  to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320); Precocious puberty, male, (MIM#176410)","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:15:43.997098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7739","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LHCGR were set to ","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:15:25.396177+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7738","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LHCGR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-06-01T11:12:35.275243+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH11 were changed from Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Visceral myopathy 2, MIM# 619350; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM#\t619351; Dominant smooth muscle dysmotility syndrome","entity_name":"MYH11","entity_type":"gene"},{"created":"2021-06-01T11:11:51.761329+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH11 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome","entity_name":"MYH11","entity_type":"gene"},{"created":"2021-06-01T11:11:22.452942+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYH11: Changed phenotypes: Visceral myopathy 2, MIM# 619350, Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, Dominant smooth muscle dysmotility syndrome","entity_name":"MYH11","entity_type":"gene"},{"created":"2021-06-01T11:09:06.734352+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7737","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEB were set to 25205138","entity_name":"NEB","entity_type":"gene"},{"created":"2021-06-01T11:08:36.358315+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7736","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive 256030 to Nemaline myopathy 2, autosomal recessive 256030; MONDO:0009725; Arthrogryposis multiplex congenita 6, MIM# 619334","entity_name":"NEB","entity_type":"gene"},{"created":"2021-06-01T11:08:11.755273+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEB as ready","entity_name":"NEB","entity_type":"gene"},{"created":"2021-06-01T11:08:11.743922+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: neb has been classified as Green List (High Evidence).","entity_name":"NEB","entity_type":"gene"},{"created":"2021-06-01T11:08:08.176427+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEB were changed from  to Arthrogryposis multiplex congenita 6, MIM# 619334","entity_name":"NEB","entity_type":"gene"},{"created":"2021-06-01T11:07:42.231241+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7735","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEB","entity_type":"gene"},{"created":"2021-06-01T11:07:08.735968+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEB were set to ","entity_name":"NEB","entity_type":"gene"},{"created":"2021-06-01T11:06:28.679641+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEB","entity_type":"gene"},{"created":"2021-06-01T11:05:57.093347+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEB","entity_type":"gene"},{"created":"2021-06-01T09:28:01.725264+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7735","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11041448; Phenotypes: Luteinizing hormone resistance, female, (MIM#238320), Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320), Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320), Precocious puberty, male, (MIM#176410); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LHCGR","entity_type":"gene"},{"created":"2021-05-31T21:18:28.812027+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7735","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GEMIN5 as ready","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2021-05-31T21:18:28.797934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7735","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gemin5 has been classified as Green List (High Evidence).","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2021-05-31T21:17:52.333220+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7735","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GEMIN5 as Green List (high evidence)","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2021-05-31T21:17:52.322988+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7735","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gemin5 has been classified as Green List (High Evidence).","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2021-05-31T21:17:36.184640+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7734","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GEMIN5 was added\ngene: GEMIN5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GEMIN5 were set to 33963192\nPhenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333\nReview for gene: GEMIN5 was set to GREEN\nAdded comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. 30 individuals from 22 unrelated families reported. \nSources: Literature","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2021-05-31T21:17:15.004705+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3801","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GEMIN5 as ready","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2021-05-31T21:17:14.986855+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3801","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gemin5 has been classified as Green List (High Evidence).","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2021-05-31T21:17:10.606817+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3801","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GEMIN5 as Green List (high evidence)","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2021-05-31T21:17:10.598326+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3801","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gemin5 has been classified as Green List (High Evidence).","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2021-05-31T21:15:50.253779+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3800","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GEMIN5 was added\ngene: GEMIN5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GEMIN5 were set to 33963192\nPhenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM#\t619333\nReview for gene: GEMIN5 was set to GREEN\nAdded comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy.\r\n\r\n30 individuals from 22 unrelated families reported. \nSources: Literature","entity_name":"GEMIN5","entity_type":"gene"},{"created":"2021-05-31T21:07:22.604560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7733","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANO6 as ready","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:07:22.594235+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7733","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ano6 has been classified as Green List (High Evidence).","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:07:15.285013+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7733","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANO6 were changed from  to Scott syndrome, MIM# 262890; MONDO:0009885","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:06:54.081954+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7732","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANO6 were set to ","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:05:55.525102+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7731","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANO6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:05:26.255131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7730","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21107324, 11895776, 27879994, 27634832; Phenotypes: Scott syndrome, MIM# 262890, MONDO:0009885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:04:29.595814+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ANO6: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:04:12.805481+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANO6 as ready","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:04:12.791098+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ano6 has been classified as Green List (High Evidence).","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:04:08.879988+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANO6 were changed from  to Scott syndrome, MIM# 262890; MONDO:0009885","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:03:46.328725+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANO6 were set to ","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:03:14.520642+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANO6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:02:45.375884+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ANO6: Changed phenotypes: Scott syndrome, MIM# 262890, MONDO:0009885","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T21:02:09.403063+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21107324, 11895776, 27879994, 27634832; Phenotypes: Scott syndrome, MIM# 262890; Mode of inheritance: None","entity_name":"ANO6","entity_type":"gene"},{"created":"2021-05-31T20:55:10.840271+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-05-31T20:53:13.738723+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNK4 as ready","entity_name":"WNK4","entity_type":"gene"},{"created":"2021-05-31T20:53:13.728131+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk4 has been classified as Green List (High Evidence).","entity_name":"WNK4","entity_type":"gene"},{"created":"2021-05-31T20:53:07.903068+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNK4 were changed from  to Pseudohypoaldosteronism, type IIB, MIM# 614491","entity_name":"WNK4","entity_type":"gene"},{"created":"2021-05-31T20:52:37.897220+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNK4 were set to ","entity_name":"WNK4","entity_type":"gene"},{"created":"2021-05-31T20:52:06.171670+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WNK4","entity_type":"gene"},{"created":"2021-05-31T20:51:34.756887+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WNK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 31044551; Phenotypes: Pseudohypoaldosteronism, type IIB, MIM# 614491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WNK4","entity_type":"gene"},{"created":"2021-05-31T20:49:11.832078+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCNN1G as ready","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2021-05-31T20:49:11.820947+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1g has been classified as Green List (High Evidence).","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2021-05-31T20:49:08.640630+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCNN1G were changed from  to Liddle syndrome 2, MIM# 618114; Pseudohypoaldosteronism, type I, MIM# 264350","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2021-05-31T20:48:39.872061+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCNN1G was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2021-05-31T20:48:10.380012+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 2, MIM# 618114, Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2021-05-31T20:46:44.914547+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCNN1B as ready","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2021-05-31T20:46:44.904952+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1b has been classified as Green List (High Evidence).","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2021-05-31T20:46:41.905203+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCNN1B were changed from  to Liddle syndrome 1, MIM# 177200; Pseudohypoaldosteronism, type I, MIM# 264350","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2021-05-31T20:45:59.299335+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCNN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2021-05-31T20:45:22.729764+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 1, MIM# 177200, Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2021-05-31T20:37:10.082235+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIO as ready","entity_name":"TRIO","entity_type":"gene"},{"created":"2021-05-31T20:37:10.072145+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trio has been classified as Green List (High Evidence).","entity_name":"TRIO","entity_type":"gene"},{"created":"2021-05-31T20:36:55.946912+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIO","entity_type":"gene"},{"created":"2021-05-31T20:36:28.791941+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRIO as Green List (high evidence)","entity_name":"TRIO","entity_type":"gene"},{"created":"2021-05-31T20:36:28.781935+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trio has been classified as Green List (High Evidence).","entity_name":"TRIO","entity_type":"gene"},{"created":"2021-05-31T20:34:59.845085+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PINK1 as ready","entity_name":"PINK1","entity_type":"gene"},{"created":"2021-05-31T20:34:59.831071+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pink1 has been classified as Green List (High Evidence).","entity_name":"PINK1","entity_type":"gene"},{"created":"2021-05-31T20:34:56.617518+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PINK1 were changed from  to Parkinson disease 6, early onset MIM#605909","entity_name":"PINK1","entity_type":"gene"},{"created":"2021-05-31T20:34:21.677074+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PINK1 were set to ","entity_name":"PINK1","entity_type":"gene"},{"created":"2021-05-31T20:33:55.738113+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PINK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PINK1","entity_type":"gene"},{"created":"2021-05-31T08:37:13.147219+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.72","user_name":"Elena Savva","item_type":"entity","text":"commented on gene: TRIO: LOF = microcephaly, GOF = macrocephaly\r\n\r\nPMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly\r\n\r\nPTCs = LOF\r\n\r\nPMID: 32109419 - 7/9 patients with global dev delay also had macrocephaly","entity_name":"TRIO","entity_type":"gene"},{"created":"2021-05-31T08:34:52.332902+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.72","user_name":"Elena Savva","item_type":"entity","text":"gene: TRIO was added\ngene: TRIO was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRIO were set to PMID: 32109419; 28928363\nPhenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825\nMode of pathogenicity for gene: TRIO was set to Other\nReview for gene: TRIO was set to GREEN\nAdded comment: LOF = microcephaly, GOF = macrocephaly\r\n\r\nPMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly\r\n\r\nPTCs = LOF \nSources: Literature","entity_name":"TRIO","entity_type":"gene"}]}