{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=858","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=856","results":[{"created":"2022-05-05T11:18:03.928128+10:00","panel_name":"Glaucoma congenital","panel_id":105,"panel_version":"1.5","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: EFEMP1 as Green List (high evidence)","entity_name":"EFEMP1","entity_type":"gene"},{"created":"2022-05-05T11:18:03.917391+10:00","panel_name":"Glaucoma congenital","panel_id":105,"panel_version":"1.5","user_name":"Alison Yeung","item_type":"entity","text":"Gene: efemp1 has been classified as Green List (High Evidence).","entity_name":"EFEMP1","entity_type":"gene"},{"created":"2022-05-05T11:18:00.571563+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.89","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: MBD4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:35460607; Phenotypes: Adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"MBD4","entity_type":"gene"},{"created":"2022-05-05T11:17:44.942801+10:00","panel_name":"Glaucoma congenital","panel_id":105,"panel_version":"1.5","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: EFEMP1 as ready","entity_name":"EFEMP1","entity_type":"gene"},{"created":"2022-05-05T11:17:44.929615+10:00","panel_name":"Glaucoma congenital","panel_id":105,"panel_version":"1.5","user_name":"Alison Yeung","item_type":"entity","text":"Gene: efemp1 has been classified as Green List (High Evidence).","entity_name":"EFEMP1","entity_type":"gene"},{"created":"2022-05-05T11:17:38.030886+10:00","panel_name":"Glaucoma congenital","panel_id":105,"panel_version":"1.5","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: EFEMP1 as Green List (high evidence)","entity_name":"EFEMP1","entity_type":"gene"},{"created":"2022-05-05T11:17:38.013080+10:00","panel_name":"Glaucoma congenital","panel_id":105,"panel_version":"1.5","user_name":"Alison Yeung","item_type":"entity","text":"Gene: efemp1 has been classified as Green List (High Evidence).","entity_name":"EFEMP1","entity_type":"gene"},{"created":"2022-05-05T11:17:12.082964+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13781","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPFIBP1 was added\ngene: PPFIBP1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPFIBP1 were set to https://www.medrxiv.org/content/10.1101/2022.04.04.22273309v1\nPhenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: PPFIBP1 was set to GREEN\nAdded comment: 16 individuals from 10 unrelated families reported with moderate to profound developmental delay, often refractory early-onset epilepsy and progressive microcephaly. Drosophila model. \nSources: Expert Review","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-05-05T11:16:41.360147+10:00","panel_name":"Glaucoma congenital","panel_id":105,"panel_version":"1.4","user_name":"Alison Yeung","item_type":"entity","text":"gene: EFEMP1 was added\ngene: EFEMP1 was added to Glaucoma congenital. Sources: Literature\nMode of inheritance for gene: EFEMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EFEMP1 were set to 34923728\nPhenotypes for gene: EFEMP1 were set to Juvenile-onset open angle glaucoma, MONDO:0020367, EFEMP1-related\nPenetrance for gene: EFEMP1 were set to unknown\nReview for gene: EFEMP1 was set to GREEN\nAdded comment: Three unrelated Filipino families, total of 34 individuals. Variants segregate with disease. \r\nDisease onset average age of 16 years. \r\nFunctional studies: transfected cells exhibit protein aggregation \nSources: Literature","entity_name":"EFEMP1","entity_type":"gene"},{"created":"2022-05-05T11:14:34.179250+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13780","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: STX1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STX1A","entity_type":"gene"},{"created":"2022-05-05T11:14:07.576941+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13779","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: STX1A as Green List (high evidence)","entity_name":"STX1A","entity_type":"gene"},{"created":"2022-05-05T11:14:07.567255+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13779","user_name":"Ain Roesley","item_type":"entity","text":"Gene: stx1a has been classified as Green List (High Evidence).","entity_name":"STX1A","entity_type":"gene"},{"created":"2022-05-05T11:13:53.243431+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13778","user_name":"Ain Roesley","item_type":"entity","text":"gene: STX1A was added\ngene: STX1A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: STX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nReview for gene: STX1A was set to GREEN\ngene: STX1A was marked as current diagnostic\nAdded comment: Preprint:\r\n8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)\r\n\r\n7 unrelated since the 2 siblings share similar features:\r\n7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria \nSources: Literature","entity_name":"STX1A","entity_type":"gene"},{"created":"2022-05-05T10:58:24.887428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13777","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYDIN as ready","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-05-05T10:58:24.876585+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13777","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hydin has been classified as Green List (High Evidence).","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-05-05T10:58:16.597697+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13777","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HYDIN were changed from  to Ciliary dyskinesia, primary, 5 (MIM#608647)","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-05-05T10:57:55.442702+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13776","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYDIN were set to ","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-05-05T10:57:30.421602+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13775","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HYDIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-05-05T10:57:09.585295+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13774","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23022101, 23849777, 28441829, 31116566; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#608647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-05-05T10:55:34.441473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13774","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HTRA2 as ready","entity_name":"HTRA2","entity_type":"gene"},{"created":"2022-05-05T10:55:34.424973+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13774","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: htra2 has been classified as Green List (High Evidence).","entity_name":"HTRA2","entity_type":"gene"},{"created":"2022-05-05T10:55:25.530311+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13774","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HTRA2 were changed from  to 3-methylglutaconic aciduria, type VIII, MIM# 617248","entity_name":"HTRA2","entity_type":"gene"},{"created":"2022-05-05T10:55:03.070652+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13773","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HTRA2 were set to ","entity_name":"HTRA2","entity_type":"gene"},{"created":"2022-05-05T10:54:41.829416+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13772","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HTRA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HTRA2","entity_type":"gene"},{"created":"2022-05-05T10:54:18.162928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13771","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208207, 27696117; Phenotypes: 3-methylglutaconic aciduria, type VIII, MIM# 617248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HTRA2","entity_type":"gene"},{"created":"2022-05-05T10:52:40.102447+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13771","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HTR1A as ready","entity_name":"HTR1A","entity_type":"gene"},{"created":"2022-05-05T10:52:40.087563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13771","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: htr1a has been classified as Red List (Low Evidence).","entity_name":"HTR1A","entity_type":"gene"},{"created":"2022-05-05T10:52:31.486795+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13771","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HTR1A were changed from  to Periodic fever, menstrual cycle dependent, MIM# 614674","entity_name":"HTR1A","entity_type":"gene"},{"created":"2022-05-05T10:52:06.580779+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13770","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HTR1A were set to ","entity_name":"HTR1A","entity_type":"gene"},{"created":"2022-05-05T10:51:46.390367+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13769","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HTR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HTR1A","entity_type":"gene"},{"created":"2022-05-05T10:51:28.179028+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13768","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HTR1A as Red List (low evidence)","entity_name":"HTR1A","entity_type":"gene"},{"created":"2022-05-05T10:51:28.166570+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13768","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: htr1a has been classified as Red List (Low Evidence).","entity_name":"HTR1A","entity_type":"gene"},{"created":"2022-05-05T10:51:09.867315+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13767","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HTR1A: Rating: RED; Mode of pathogenicity: None; Publications: 21990073; Phenotypes: Periodic fever, menstrual cycle dependent, MIM# 614674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HTR1A","entity_type":"gene"},{"created":"2022-05-05T10:44:00.472149+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13767","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSPD1 as ready","entity_name":"HSPD1","entity_type":"gene"},{"created":"2022-05-05T10:44:00.457901+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13767","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspd1 has been classified as Green List (High Evidence).","entity_name":"HSPD1","entity_type":"gene"},{"created":"2022-05-05T10:43:52.118715+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13767","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSPD1 were changed from  to Leukodystrophy, hypomyelinating, 4, MIM# 612233; Spastic paraplegia 13, autosomal dominant, MIM# 605280","entity_name":"HSPD1","entity_type":"gene"},{"created":"2022-05-05T10:43:31.745135+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13766","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSPD1 were set to ","entity_name":"HSPD1","entity_type":"gene"},{"created":"2022-05-05T10:43:12.341840+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13765","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSPD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HSPD1","entity_type":"gene"},{"created":"2022-05-05T10:42:50.394550+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13764","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012, 11898127, 17420924; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233, Spastic paraplegia 13, autosomal dominant, MIM# 605280; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HSPD1","entity_type":"gene"},{"created":"2022-05-05T10:39:37.265320+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13764","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD3B7 as ready","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-05-05T10:39:37.252944+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13764","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd3b7 has been classified as Green List (High Evidence).","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-05-05T10:39:28.719905+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13764","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD3B7 were changed from  to Bile acid synthesis defect, congenital, 1 MIM#607765; Disorders of bile acid biosynthesis","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-05-05T10:39:00.906998+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13763","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSD3B7 were set to ","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-05-05T10:38:39.774761+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13762","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSD3B7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2022-05-05T10:31:14.231438+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD3B2 as ready","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:31:14.218762+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd3b2 has been classified as Green List (High Evidence).","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:31:10.759894+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD3B2 were changed from  to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:30:35.136545+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSD3B2 were set to ","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:30:07.694176+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSD3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:29:37.651533+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1363812, 18252794; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:27:39.537843+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13761","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD3B2 as ready","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:27:39.526133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13761","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd3b2 has been classified as Green List (High Evidence).","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:27:14.264429+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13761","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD3B2 were changed from  to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:26:48.670834+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13760","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSD3B2 were set to ","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:26:19.075932+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13759","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSD3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-05T10:25:57.553280+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13758","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1363812, 18252794; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-05-04T21:50:41.226306+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13758","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: only 1 probed reported thus far; to: only 1 proband reported thus far","entity_name":"CPN1","entity_type":"gene"},{"created":"2022-05-04T21:48:38.336369+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13758","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CUBN as ready","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-05-04T21:48:38.319820+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13758","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cubn has been classified as Green List (High Evidence).","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-05-04T21:48:11.595593+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13758","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CUBN were changed from  to Imerslund-Grasbeck syndrome 1 MIM#261100 AR; [Proteinuria, chronic benign] MIM#618884","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-05-04T21:48:03.374672+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13757","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CUBN were set to ","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-05-04T21:47:53.443917+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13756","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CUBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-05-04T21:47:35.087260+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13755","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31613795, 21903995, 31497480; Phenotypes: Imerslund-Grasbeck syndrome 1 MIM#261100 AR, [Proteinuria, chronic benign] MIM#618884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CUBN","entity_type":"gene"},{"created":"2022-05-04T21:45:03.561011+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13755","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CTSF as ready","entity_name":"CTSF","entity_type":"gene"},{"created":"2022-05-04T21:45:03.548769+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13755","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ctsf has been classified as Green List (High Evidence).","entity_name":"CTSF","entity_type":"gene"},{"created":"2022-05-04T21:44:52.121190+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13755","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CTSF were set to ","entity_name":"CTSF","entity_type":"gene"},{"created":"2022-05-04T21:44:48.377576+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13755","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CTSF were changed from  to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362","entity_name":"CTSF","entity_type":"gene"},{"created":"2022-05-04T21:44:32.197678+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13754","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSF","entity_type":"gene"},{"created":"2022-05-04T21:44:14.910465+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13753","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28749476, 27668283, 27524508; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CTSF","entity_type":"gene"},{"created":"2022-05-04T21:42:40.315607+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13753","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CTSC as ready","entity_name":"CTSC","entity_type":"gene"},{"created":"2022-05-04T21:42:40.305098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13753","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ctsc has been classified as Green List (High Evidence).","entity_name":"CTSC","entity_type":"gene"},{"created":"2022-05-04T21:42:32.722525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13753","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CTSC were changed from  to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000; Periodontitis 1, juvenile MIM#170650","entity_name":"CTSC","entity_type":"gene"},{"created":"2022-05-04T21:42:12.463714+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13752","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11106356, 32601924, 10581027, 14974080, 10662808; Phenotypes: Haim-Munk syndrome MIM#245010, Papillon-Lefevre syndrome MIM#245000, Periodontitis 1, juvenile MIM#170650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CTSC","entity_type":"gene"},{"created":"2022-05-04T21:41:05.471635+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13752","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CTSC were set to ","entity_name":"CTSC","entity_type":"gene"},{"created":"2022-05-04T21:40:49.424907+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13751","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CTSC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSC","entity_type":"gene"},{"created":"2022-05-04T21:31:03.733959+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13750","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CTNS as ready","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-05-04T21:31:03.720656+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13750","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ctns has been classified as Green List (High Evidence).","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-05-04T21:30:53.678270+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13750","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CTNS were changed from  to Cystinosis, atypical nephropathic MIM#219800; Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, nephropathic MIM#219800; Cystinosis, ocular nonnephropathic MIM#219750","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-05-04T21:30:36.800088+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13749","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CTNS were set to ","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-05-04T21:30:29.903147+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13748","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CTNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-05-04T21:30:07.332925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13747","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: CTNS: Changed rating: GREEN","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-05-04T21:29:51.618303+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13747","user_name":"Ain Roesley","item_type":"entity","text":"Deleted their comment","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-05-04T21:29:44.395632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13747","user_name":"Ain Roesley","item_type":"entity","text":"commented on gene: CTNS: Established association.\r\n\r\nGenereviews PMID:20301574","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-05-04T21:29:44.256396+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13747","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CTNS: Rating: ; Mode of pathogenicity: None; Publications: 20301574, 9537412, 31068690; Phenotypes: Cystinosis, atypical nephropathic MIM#219800, Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, nephropathic MIM#219800, Cystinosis, ocular nonnephropathic MIM#219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CTNS","entity_type":"gene"},{"created":"2022-05-04T21:24:35.706745+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13747","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CTNNA1 as ready","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2022-05-04T21:24:35.696621+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13747","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ctnna1 has been classified as Green List (High Evidence).","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2022-05-04T21:24:28.683789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13747","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CTNNA1 were changed from  to Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970; Familial exudative vitreoretinopathy MONDO#0019516, CTNNA1-related","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2022-05-04T21:24:16.149364+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13746","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CTNNA1 were set to ","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2022-05-04T21:24:10.775402+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13746","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CTNNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2022-05-04T21:23:50.553640+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13745","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CTNNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26691986, 33497368; Phenotypes: Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970, Familial exudative vitreoretinopathy MONDO#0019516, CTNNA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2022-05-04T21:20:35.089655+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13745","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CTHRC1 as ready","entity_name":"CTHRC1","entity_type":"gene"},{"created":"2022-05-04T21:20:35.075423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13745","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cthrc1 has been classified as Red List (Low Evidence).","entity_name":"CTHRC1","entity_type":"gene"},{"created":"2022-05-04T21:20:18.878336+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13745","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CTHRC1 were changed from  to Barrett esophagus/esophageal adenocarcinoma MIM#614266","entity_name":"CTHRC1","entity_type":"gene"},{"created":"2022-05-04T21:20:15.019104+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13745","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CTHRC1 were set to ","entity_name":"CTHRC1","entity_type":"gene"},{"created":"2022-05-04T21:19:53.928629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13744","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: CTHRC1 as Red List (low evidence)","entity_name":"CTHRC1","entity_type":"gene"},{"created":"2022-05-04T21:19:53.915650+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13744","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cthrc1 has been classified as Red List (Low Evidence).","entity_name":"CTHRC1","entity_type":"gene"},{"created":"2022-05-04T21:19:27.849392+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13743","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CTHRC1: Rating: RED; Mode of pathogenicity: None; Publications: 21791690; Phenotypes: Barrett esophagus/esophageal adenocarcinoma MIM#614266; Mode of inheritance: None; Current diagnostic: yes","entity_name":"CTHRC1","entity_type":"gene"},{"created":"2022-05-04T21:14:04.641717+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13743","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CSRP3 as ready","entity_name":"CSRP3","entity_type":"gene"},{"created":"2022-05-04T21:14:04.623914+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13743","user_name":"Ain Roesley","item_type":"entity","text":"Gene: csrp3 has been classified as Green List (High Evidence).","entity_name":"CSRP3","entity_type":"gene"},{"created":"2022-05-04T21:13:57.638904+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13743","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CSRP3 were changed from  to hypertrophic cardiomyopathy12 MIM#612124; dilated cardiomyopathy 1M MIM#607482","entity_name":"CSRP3","entity_type":"gene"}]}