{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=900","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=898","results":[{"created":"2022-04-01T15:23:30.080226+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12407","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: eng has been classified as Green List (High Evidence).","entity_name":"ENG","entity_type":"gene"},{"created":"2022-04-01T15:23:19.555810+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12407","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11506403, 31741825, 25267339, 18070103; Phenotypes: glycogen storage disease due to muscle beta-enolase deficiency MONDO:0013046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ENO3","entity_type":"gene"},{"created":"2022-04-01T15:21:04.259743+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12407","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ENG were changed from  to hereditary hemorrhagic telangiectasia MONDO:0019180","entity_name":"ENG","entity_type":"gene"},{"created":"2022-04-01T15:17:09.797551+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12406","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ENG were set to ","entity_name":"ENG","entity_type":"gene"},{"created":"2022-04-01T15:15:38.357125+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12405","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ENG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ENG","entity_type":"gene"},{"created":"2022-04-01T15:13:46.066021+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.181","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EMP2 as ready","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T15:13:46.056612+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.181","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: emp2 has been classified as Amber List (Moderate Evidence).","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T15:13:04.023314+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.181","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: EMP2 were changed from  to nephrotic syndrome, type 10 MONDO:0014373","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T15:12:33.079094+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12404","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 34012068, 30336550, 7894484, 10751092, 20414677, 30763665, 17384219, 20364125; Phenotypes: hereditary hemorrhagic telangiectasia MONDO:0019180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"ENG","entity_type":"gene"},{"created":"2022-04-01T15:11:37.827448+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.180","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: EMP2 were set to ","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T15:09:53.828096+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.179","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: EMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T15:07:44.041738+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.178","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EMP2 as Amber List (moderate evidence)","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T15:07:44.030657+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.178","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: emp2 has been classified as Amber List (Moderate Evidence).","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T15:07:15.473277+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.177","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24814193, 31508419; Phenotypes: nephrotic syndrome, type 10 MONDO:0014373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T15:06:00.499263+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12404","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EMP2 as ready","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T15:06:00.489727+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12404","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: emp2 has been classified as Amber List (Moderate Evidence).","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T15:00:44.445211+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12404","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: EMP2 were changed from  to nephrotic syndrome, type 10 MONDO:0014373","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T14:59:09.099195+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12403","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: EMP2 were set to ","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T14:54:34.466500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12402","user_name":"Manny Jacobs","item_type":"entity","text":"reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-04-01T14:54:07.519646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12402","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: EMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T14:53:02.253494+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12401","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EMP2 as Amber List (moderate evidence)","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T14:53:02.242088+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12401","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: emp2 has been classified as Amber List (Moderate Evidence).","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T14:52:40.950815+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12400","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24814193, 31508419; Phenotypes: nephrotic syndrome, type 10 MONDO:0014373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EMP2","entity_type":"gene"},{"created":"2022-04-01T14:39:02.037821+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12400","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ELP2 as ready","entity_name":"ELP2","entity_type":"gene"},{"created":"2022-04-01T14:39:02.014104+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12400","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: elp2 has been classified as Green List (High Evidence).","entity_name":"ELP2","entity_type":"gene"},{"created":"2022-04-01T14:37:55.105437+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12400","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ELP2 were changed from  to intellectual disability, autosomal recessive 58 MONDO:0014996","entity_name":"ELP2","entity_type":"gene"},{"created":"2022-04-01T14:32:01.394745+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12399","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ELP2 were set to ","entity_name":"ELP2","entity_type":"gene"},{"created":"2022-04-01T14:30:10.414020+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12398","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ELP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ELP2","entity_type":"gene"},{"created":"2022-04-01T14:29:50.638228+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12397","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25847581, 32573669, 34653680; Phenotypes: intellectual disability, autosomal recessive 58 MONDO:0014996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ELP2","entity_type":"gene"},{"created":"2022-04-01T14:14:07.215187+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12397","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ELOVL4 as ready","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2022-04-01T14:14:07.203310+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12397","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: elovl4 has been classified as Green List (High Evidence).","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2022-04-01T14:13:43.847648+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12397","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ELOVL5 as ready","entity_name":"ELOVL5","entity_type":"gene"},{"created":"2022-04-01T14:13:43.838463+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12397","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: elovl5 has been classified as Green List (High Evidence).","entity_name":"ELOVL5","entity_type":"gene"},{"created":"2022-04-01T14:11:34.226448+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12397","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ELOVL5 were changed from  to spinocerebellar ataxia type 38 MONDO:0014417","entity_name":"ELOVL5","entity_type":"gene"},{"created":"2022-04-01T14:11:16.515849+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12396","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ELOVL4 were changed from  to congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760; spinocerebellar ataxia type 34 MONDO:0007574; Stargardt disease MONDO:0019353","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2022-04-01T14:09:51.041765+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12395","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ELOVL5 were set to ","entity_name":"ELOVL5","entity_type":"gene"},{"created":"2022-04-01T14:09:02.469045+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12394","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ELOVL4 were set to 11138005; 15028284; 11726641; 17208947; 22100072; 24566826; 34227061; 24571530; 26010696","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2022-04-01T14:08:49.906674+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12393","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ELOVL4 were set to ","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2022-04-01T14:08:05.117408+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12392","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ELOVL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ELOVL5","entity_type":"gene"},{"created":"2022-04-01T14:07:35.006919+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12391","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ELOVL4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2022-04-01T14:07:00.150626+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12390","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138005, 15028284, 11726641, 17208947, 22100072, 24566826, 34227061, 24571530, 26010696; Phenotypes: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760, spinocerebellar ataxia type 34 MONDO:0007574, Stargardt disease MONDO:0019353; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2022-04-01T12:36:22.736481+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12390","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ELN as ready","entity_name":"ELN","entity_type":"gene"},{"created":"2022-04-01T12:36:22.724927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12390","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: eln has been classified as Green List (High Evidence).","entity_name":"ELN","entity_type":"gene"},{"created":"2022-04-01T12:35:07.349896+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12390","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ELN were changed from  to cutis laxa, autosomal dominant 1 MONDO:0007411; supravalvular aortic stenosis MONDO:0008504","entity_name":"ELN","entity_type":"gene"},{"created":"2022-04-01T12:33:46.814628+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12389","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ELN were set to ","entity_name":"ELN","entity_type":"gene"},{"created":"2022-04-01T12:32:04.104320+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12388","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ELN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ELN","entity_type":"gene"},{"created":"2022-04-01T12:31:43.979723+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12387","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 8132745, 9580666, 9873040, 10190324, 10190538, 22573328, 28383366; Phenotypes: cutis laxa, autosomal dominant 1 MONDO:0007411, supravalvular aortic stenosis MONDO:0008504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"ELN","entity_type":"gene"},{"created":"2022-04-01T11:31:47.991047+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12387","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072","entity_name":"ARPC4","entity_type":"gene"},{"created":"2022-04-01T11:31:22.032434+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12386","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: ARPC4: Changed publications: 35047857; Set current diagnostic: yes","entity_name":"ARPC4","entity_type":"gene"},{"created":"2022-04-01T11:29:10.845848+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC52A2 as ready","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2022-04-01T11:29:10.832193+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc52a2 has been classified as Green List (High Evidence).","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2022-04-01T11:28:58.890300+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC52A2 were changed from  to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2022-04-01T11:28:38.107198+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12385","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC52A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2022-04-01T11:28:18.001322+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12384","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Generally presents with a range of neuropathies but ataxia described.; to: Well established gene-disease association.","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2022-04-01T11:27:24.394715+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC52A3 as ready","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-04-01T11:27:24.379798+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc52a3 has been classified as Green List (High Evidence).","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-04-01T11:27:16.350198+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12384","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC52A3 were changed from  to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-04-01T11:26:55.660563+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12383","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC52A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-04-01T11:26:35.764299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12382","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-04-01T11:26:08.527744+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12382","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DVL2 as ready","entity_name":"DVL2","entity_type":"gene"},{"created":"2022-04-01T11:26:08.507177+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12382","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dvl2 has been classified as Amber List (Moderate Evidence).","entity_name":"DVL2","entity_type":"gene"},{"created":"2022-04-01T11:25:07.994850+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12382","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DVL2 as Amber List (moderate evidence)","entity_name":"DVL2","entity_type":"gene"},{"created":"2022-04-01T11:25:07.977740+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12382","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dvl2 has been classified as Amber List (Moderate Evidence).","entity_name":"DVL2","entity_type":"gene"},{"created":"2022-04-01T11:25:04.949418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12381","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC5A2 as ready","entity_name":"SLC5A2","entity_type":"gene"},{"created":"2022-04-01T11:25:04.939420+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12381","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc5a2 has been classified as Green List (High Evidence).","entity_name":"SLC5A2","entity_type":"gene"},{"created":"2022-04-01T11:24:56.679407+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12381","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC5A2 were changed from  to Renal glucosuria, MIM# 233100","entity_name":"SLC5A2","entity_type":"gene"},{"created":"2022-04-01T11:24:50.929836+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12381","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DVL2 was added\ngene: DVL2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DVL2 were set to 35047859; 33599851; 30521570\nPhenotypes for gene: DVL2 were set to Robinow syndrome MONDO:0019978\nReview for gene: DVL2 was set to AMBER\nAdded comment: A single case with Robinow syndrome identified with a de novo frameshift variant in the last exon of the gene (c.2105dupC, p.Pro703Serfs*103). Also, a canine DVL2 frameshift variant has been associated with a Robinow-like syndrome in dogs, contributing to the brachycephalic phenotype and caudal vertebral anomalies. \nSources: Literature","entity_name":"DVL2","entity_type":"gene"},{"created":"2022-04-01T11:24:36.417772+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12380","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC5A2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SLC5A2","entity_type":"gene"},{"created":"2022-04-01T11:24:14.879834+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12379","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, MIM# 233100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SLC5A2","entity_type":"gene"},{"created":"2022-04-01T11:20:44.827101+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12379","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A17 as ready","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T11:20:44.813784+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12379","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a17 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T11:20:36.269556+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4647","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A17 as ready","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T11:20:36.260434+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4647","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a17 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T11:20:31.870158+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4647","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A17 were changed from  to Mental retardation, autosomal recessive 48, MIM# 616269","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T11:17:21.599381+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4646","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC6A17 were set to ","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T11:02:37.082304+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.763","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TAMM41 as ready","entity_name":"TAMM41","entity_type":"gene"},{"created":"2022-04-01T11:02:37.067276+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.763","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tamm41 has been classified as Green List (High Evidence).","entity_name":"TAMM41","entity_type":"gene"},{"created":"2022-04-01T11:01:01.295136+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.763","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TAMM41 as Green List (high evidence)","entity_name":"TAMM41","entity_type":"gene"},{"created":"2022-04-01T11:01:01.279765+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.763","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tamm41 has been classified as Green List (High Evidence).","entity_name":"TAMM41","entity_type":"gene"},{"created":"2022-04-01T11:00:06.289003+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.762","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TAMM41 was added\ngene: TAMM41 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAMM41 were set to 35321494; 29253589\nPhenotypes for gene: TAMM41 were set to inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis\nReview for gene: TAMM41 was set to GREEN\nAdded comment: Three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis with biallelic variants. Tissue-specific observations on OXPHOS were identified, cardiolipin levels were unchanged in subject fibroblasts but significantly decreased in the skeletal muscle of affected individuals. The missense variants identified were defective in yeast models. In an in vitro cell model knockdown of TAMM41 resulted in decreased mitochondrial CDP diacylglycerol synthase activity, decreased cardiolipin levels and a decrease in oxygen consumption. \nSources: Literature","entity_name":"TAMM41","entity_type":"gene"},{"created":"2022-04-01T10:56:05.339067+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.159","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BNIP1 as ready","entity_name":"BNIP1","entity_type":"gene"},{"created":"2022-04-01T10:56:05.328005+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.159","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bnip1 has been classified as Amber List (Moderate Evidence).","entity_name":"BNIP1","entity_type":"gene"},{"created":"2022-04-01T10:55:09.047794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12379","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TAMM41 as ready","entity_name":"TAMM41","entity_type":"gene"},{"created":"2022-04-01T10:55:09.035027+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12379","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tamm41 has been classified as Green List (High Evidence).","entity_name":"TAMM41","entity_type":"gene"},{"created":"2022-04-01T10:54:07.284940+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12379","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TAMM41 as Green List (high evidence)","entity_name":"TAMM41","entity_type":"gene"},{"created":"2022-04-01T10:54:07.275230+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12379","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tamm41 has been classified as Green List (High Evidence).","entity_name":"TAMM41","entity_type":"gene"},{"created":"2022-04-01T10:53:48.477578+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12378","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TAMM41 was added\ngene: TAMM41 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAMM41 were set to 35321494; 29253589\nPhenotypes for gene: TAMM41 were set to inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis\nReview for gene: TAMM41 was set to GREEN\nAdded comment: Three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis with biallelic variants. Tissue-specific observations on OXPHOS were identified, cardiolipin levels were unchanged in subject fibroblasts but significantly decreased in the skeletal muscle of affected individuals. The missense variants identified were defective in yeast models. In an in vitro cell model knockdown of TAMM41 resulted in decreased mitochondrial CDP diacylglycerol synthase activity, decreased cardiolipin levels and a decrease in oxygen consumption. \nSources: Literature","entity_name":"TAMM41","entity_type":"gene"},{"created":"2022-04-01T10:53:33.436067+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4645","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC6A17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T10:53:01.953296+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4644","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC6A17 as Amber List (moderate evidence)","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T10:53:01.937019+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4644","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a17 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T10:52:29.823438+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4643","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: None; Publications: 25704603, 23672601; Phenotypes: Mental retardation, autosomal recessive 48, MIM# 616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T10:52:24.039632+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12377","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A17 were changed from  to Mental retardation, autosomal recessive 48, MIM# 616269","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T10:52:04.449280+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12376","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC6A17 were set to ","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T10:51:45.599378+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12375","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC6A17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T10:51:27.474395+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12374","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC6A17 as Amber List (moderate evidence)","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T10:51:27.464577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12374","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a17 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T10:50:50.568425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12373","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: None; Publications: 25704603, 23672601; Phenotypes: Mental retardation, autosomal recessive 48, MIM# 616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC6A17","entity_type":"gene"},{"created":"2022-04-01T10:49:58.191094+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.154","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: APOE: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 33679311; Phenotypes: Alzheimer disease 2 MIM#104310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APOE","entity_type":"gene"},{"created":"2022-04-01T10:48:03.057237+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12373","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A19 as ready","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2022-04-01T10:48:03.046658+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12373","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a19 has been classified as Green List (High Evidence).","entity_name":"SLC6A19","entity_type":"gene"}]}