{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1562","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1560","results":[{"created":"2020-10-02T17:03:31.280875+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3044","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTI2 as ready","entity_name":"TTI2","entity_type":"gene"},{"created":"2020-10-02T17:03:31.267720+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3044","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tti2 has been classified as Green List (High Evidence).","entity_name":"TTI2","entity_type":"gene"},{"created":"2020-10-02T17:03:27.208160+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3044","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTI2 were changed from  to Mental retardation, autosomal recessive 39 (MIM#615541) AR","entity_name":"TTI2","entity_type":"gene"},{"created":"2020-10-02T17:02:59.042577+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3043","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTI2 were set to ","entity_name":"TTI2","entity_type":"gene"},{"created":"2020-10-02T17:02:27.585993+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3042","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTI2","entity_type":"gene"},{"created":"2020-10-02T16:49:47.332642+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IGSF10 as ready","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:49:47.319212+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: igsf10 has been classified as Amber List (Moderate Evidence).","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:39:48.465969+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4725","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IGSF10 as ready","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:39:48.455983+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4725","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: igsf10 has been classified as Amber List (Moderate Evidence).","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:39:39.062231+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4725","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IGSF10 as Amber List (moderate evidence)","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:39:39.050827+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4725","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: igsf10 has been classified as Amber List (Moderate Evidence).","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:39:12.298223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4724","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IGSF10 was added\ngene: IGSF10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IGSF10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: IGSF10 were set to 27137492; 31042289\nPhenotypes for gene: IGSF10 were set to delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency\nReview for gene: IGSF10 was set to AMBER\nAdded comment: PMID: 27137492 - 4 Finnish families segregating p.Glu161Lys, but Finnish MAF in ExAC is 2%. Another six additional families with a possible missense, but variants are seen in ExAC suggesting incomplete penetrance. Supporting in vitro functional assays and zebrafish model. PMID: 31042289 - 2 unrelated consanguineous families with homozygous variants and family with a heterozygous frameshift and apparent incomplete penetrance. \nSources: Literature","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:26:39.156386+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IGSF10 as Amber List (moderate evidence)","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:26:39.148318+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: igsf10 has been classified as Amber List (Moderate Evidence).","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:26:28.588741+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: IGSF10: Changed phenotypes: delayed puberty, hypogonadotropic hypogonadism, primary ovary insufficiency","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:24:06.332956+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IGSF10 was added\ngene: IGSF10 was added to Amenorrhoea. Sources: Literature\nMode of inheritance for gene: IGSF10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: IGSF10 were set to 27137492; 31042289\nPhenotypes for gene: IGSF10 were set to delayed puberty; hypogonadotropic hypogonadism\nReview for gene: IGSF10 was set to AMBER\nAdded comment: PMID: 27137492 - 4 Finnish families segregating p.Glu161Lys, but Finnish MAF in ExAC is 2%. Another six additional families with a possible missense, but variants are seen in ExAC suggesting incomplete penetrance. Supporting in vitro functional assays and zebrafish model. PMID: 31042289 - 2 unrelated consanguineous families with homozygous variants and family with a heterozygous frameshift and apparent incomplete penetrance. \nSources: Literature","entity_name":"IGSF10","entity_type":"gene"},{"created":"2020-10-02T16:01:22.134200+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HNF1B as Red List (low evidence)","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-10-02T16:01:22.122794+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hnf1b has been classified as Red List (Low Evidence).","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-10-02T16:01:12.669606+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: HNF1B: Rating: RED; Mode of pathogenicity: None; Publications: 23431465; Phenotypes: Mayer-rokitansky-kuster-hauser syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-10-02T15:38:51.478271+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAFB as ready","entity_name":"MAFB","entity_type":"gene"},{"created":"2020-10-02T15:38:51.469545+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mafb has been classified as Green List (High Evidence).","entity_name":"MAFB","entity_type":"gene"},{"created":"2020-10-02T14:28:40.088297+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4723","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239382, 32358097, 32808430; Phenotypes: Mental retardation, autosomal recessive 41 (MIM#615637); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KPTN","entity_type":"gene"},{"created":"2020-10-02T14:11:31.908973+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.80","user_name":"Eunice Chan","item_type":"entity","text":"gene: RHOBTB2 was added\ngene: RHOBTB2 was added to Paroxysmal Dyskinesia. Sources: Other\nMode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RHOBTB2 were set to PMID 29276004\nPhenotypes for gene: RHOBTB2 were set to Paroxysmal movement disorder\nAdded comment: At least 5/10 patients described had paroxysmal, or chorea-like movements\r\n8/10 have a movement disorder \nSources: Other","entity_name":"RHOBTB2","entity_type":"gene"},{"created":"2020-10-02T14:09:22.969852+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.142","user_name":"Eunice Chan","item_type":"entity","text":"gene: RHOBTB2 was added\ngene: RHOBTB2 was added to Dystonia - complex. Sources: Other\nMode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RHOBTB2 were set to PMID: 29276004\nPhenotypes for gene: RHOBTB2 were set to Dystonia, hypertonia, movement disorder; truncal hypotonia; hemiparesis; developmental and epileptic encephalopathy\nAdded comment: 8/10 patients described had dystonic, paroxysmal, or chorea-like movements \nSources: Other","entity_name":"RHOBTB2","entity_type":"gene"},{"created":"2020-10-02T13:18:53.519855+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4723","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1 256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHS1","entity_type":"gene"},{"created":"2020-10-02T10:03:48.574309+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3041","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32061250, 23956177, 31737043; Phenotypes: Mental retardation, autosomal recessive 39 (MIM#615541) AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTI2","entity_type":"gene"},{"created":"2020-10-02T09:17:59.320293+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.137","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MAFB as Green List (high evidence)","entity_name":"MAFB","entity_type":"gene"},{"created":"2020-10-02T09:17:59.311532+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.137","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mafb has been classified as Green List (High Evidence).","entity_name":"MAFB","entity_type":"gene"},{"created":"2020-10-02T09:17:43.779317+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.137","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MAFB as Green List (high evidence)","entity_name":"MAFB","entity_type":"gene"},{"created":"2020-10-02T09:17:43.767797+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.137","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mafb has been classified as Green List (High Evidence).","entity_name":"MAFB","entity_type":"gene"},{"created":"2020-10-02T09:17:27.285914+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.137","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MAFB as Green List (high evidence)","entity_name":"MAFB","entity_type":"gene"},{"created":"2020-10-02T09:17:27.272945+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.137","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mafb has been classified as Green List (High Evidence).","entity_name":"MAFB","entity_type":"gene"},{"created":"2020-10-02T09:16:36.275936+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.136","user_name":"Chirag Patel","item_type":"entity","text":"gene: MAFB was added\ngene: MAFB was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAFB were set to PMID: 30208859; 29396697; 23956186\nPhenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome, OMIM#166300\nReview for gene: MAFB was set to GREEN\ngene: MAFB was marked as current diagnostic\nAdded comment: Renal disease is documented in multiple patients with this skeletal dysplasia (MCTO). Mostly presenting with proteinuria, FSGS on biopsy, and progressive renal failure. \nSources: Literature","entity_name":"MAFB","entity_type":"gene"},{"created":"2020-10-01T18:37:00.846692+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARID2 as ready","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:37:00.836150+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arid2 has been classified as Green List (High Evidence).","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:36:55.212411+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARID2 were changed from  to Coffin-Siris syndrome 6, MIM# 617808","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:36:38.169871+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARID2 were set to ","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:35:53.380049+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARID2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:35:30.617783+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26238514, 30838730, 29698805, 28884947, 28124119; Phenotypes: Coffin-Siris syndrome 6, MIM# 617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:34:35.728581+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3041","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26238514, 30838730, 29698805, 28884947, 28124119; Phenotypes: Coffin-Siris syndrome 6, MIM# 617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:33:54.633481+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3041","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARID2 as ready","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:33:54.623547+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3041","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arid2 has been classified as Green List (High Evidence).","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:33:51.370360+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3041","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARID2 were changed from  to Coffin-Siris syndrome 6, MIM#\t617808","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:33:18.488115+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3040","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARID2 were set to ","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:31:26.257850+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3039","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARID2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-10-01T18:30:27.187300+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4723","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PFN1 as ready","entity_name":"PFN1","entity_type":"gene"},{"created":"2020-10-01T18:30:27.174027+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4723","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pfn1 has been classified as Green List (High Evidence).","entity_name":"PFN1","entity_type":"gene"},{"created":"2020-10-01T18:30:19.985026+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4723","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PFN1 were set to ","entity_name":"PFN1","entity_type":"gene"},{"created":"2020-10-01T18:27:38.471886+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4722","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PFN1 were changed from  to Amyotrophic lateral sclerosis 18 (MIM# 614808); Paget’s disease of bone","entity_name":"PFN1","entity_type":"gene"},{"created":"2020-10-01T18:25:26.613590+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4721","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PFN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PFN1","entity_type":"gene"},{"created":"2020-10-01T18:20:45.345091+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4720","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31802421, 31611772, 31401564, 30203378, 28040732, 22801503; Phenotypes: Amyotrophic lateral sclerosis 18, MIM# 614808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PFN1","entity_type":"gene"},{"created":"2020-10-01T18:15:31.787806+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4720","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDH15 as ready","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T18:15:31.777063+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4720","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh15 has been classified as Green List (High Evidence).","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T18:15:21.216954+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4720","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCDH15 were changed from  to Usher syndrome, type 1F, MIM# 602083; Deafness, autosomal recessive 23, MIM# 609533","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T18:14:56.866163+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4719","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCDH15 were set to ","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T18:14:39.206508+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4718","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCDH15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T17:08:11.156735+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4717","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779; Phenotypes: Usher syndrome, type 1F, MIM# 602083, Deafness, autosomal recessive 23, MIM# 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T17:07:01.462722+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.542","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDH15 as ready","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T17:07:01.452755+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.542","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh15 has been classified as Green List (High Evidence).","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T17:06:57.850285+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.542","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCDH15 were changed from  to Usher syndrome, type 1F, MIM# 602083; Deafness, autosomal recessive 23, MIM# 609533","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T17:06:31.503782+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCDH15 were set to ","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T17:06:00.578647+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCDH15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T17:05:35.200968+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.539","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779; Phenotypes: Usher syndrome, type 1F, MIM# 602083, Deafness, autosomal recessive 23, MIM# 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCDH15","entity_type":"gene"},{"created":"2020-10-01T16:12:49.347377+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.539","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WFS1 as ready","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-10-01T16:12:49.331724+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.539","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wfs1 has been classified as Green List (High Evidence).","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-10-01T16:12:46.953118+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.539","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WFS1 were changed from  to Deafness, autosomal dominant 6/14/38, MIM# 600965; Wolfram syndrome 1 222300; Wolfram-like syndrome, autosomal dominant, MIM# 614296","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-10-01T16:12:22.773509+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.538","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WFS1 were set to ","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-10-01T16:11:56.516641+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.537","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-10-01T16:11:27.164781+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.536","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WFS1: Changed publications: 11709537, 12073007, 16648378, 18544103, 20069065, 21538838, 25250959, 27395765, 28802351, 29529044, 12754709, 16151413, 21446023, 21602428","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-10-01T16:10:55.996829+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.536","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11709537, 12073007, 16648378, 18544103, 20069065, 21538838, 25250959, 27395765, 28802351, 29529044; Phenotypes: Deafness, autosomal dominant 6/14/38, MIM# 600965, Wolfram syndrome 1 222300, Wolfram-like syndrome, autosomal dominant, MIM# 614296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-10-01T16:09:19.751829+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4717","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: PFN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32392277, 31991009, 31346562, 32589291, 22801503; Phenotypes: Paget’s disease of bone; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PFN1","entity_type":"gene"},{"created":"2020-10-01T16:06:59.117449+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WHRN as ready","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:06:59.107091+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: whrn has been classified as Green List (High Evidence).","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:06:51.361597+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WHRN were set to ","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:06:38.574795+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483; Phenotypes: Usher syndrome, type 2D, MIM# 611383, Deafness, autosomal recessive 31, MIM# 607084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:05:57.589669+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WHRN as ready","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:05:57.577229+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: whrn has been classified as Green List (High Evidence).","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:05:53.714682+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WHRN were changed from Hearing loss to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:05:31.507674+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WHRN were set to ","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:05:21.981122+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WHRN as Green List (high evidence)","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:05:21.967782+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: whrn has been classified as Green List (High Evidence).","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:05:11.427579+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483; Phenotypes: Usher syndrome, type 2D, MIM# 611383, Deafness, autosomal recessive 31, MIM# 607084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:04:13.561392+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4717","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WHRN as ready","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:04:13.551663+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4717","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: whrn has been classified as Green List (High Evidence).","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:03:58.914522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4717","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WHRN were changed from  to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:03:42.263263+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4716","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WHRN were set to ","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:03:22.245212+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4715","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WHRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:03:04.379737+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4714","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483; Phenotypes: Usher syndrome, type 2D, MIM# 611383, Deafness, autosomal recessive 31, MIM# 607084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:02:35.781945+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.536","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WHRN: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:02:05.338745+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.536","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WHRN as ready","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:02:05.327036+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.536","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: whrn has been classified as Green List (High Evidence).","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:02:01.692775+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.536","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WHRN were changed from  to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:01:40.511699+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.535","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WHRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:01:16.779543+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.534","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WHRN were set to ","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:00:24.032132+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.533","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WHRN: Changed phenotypes: Usher syndrome, type 2D, MIM# 611383, Deafness, autosomal recessive 31, MIM# 607084","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T16:00:07.303664+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.533","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association with Usher syndrome: DEFINITIVE by ClinGen, multiple families and animal models. Of note, the Whrn(neo/neo) mouse model, in which the N-terminal and long transcripts are ablated, leads to Usher syndrome (Mather et al. 2015, PMID: 26307081).\r\n\r\nAssociated with isolated AR deafness: MODERATE by ClinGen. Of note, the Whrn(wi/wi) model, which disrupts only the long and C-terminal transcripts, results in a mouse with profound hearing loss and severe vestibular defect without a retinal phenotype (Ebrahim et al. 2016, PMID: 27117407). The Whrn(tm1b/tm1b) model disrupts the C-terminal transcripts, resulting in a mouse with mild-hearing loss and no vestibular or retinal defects (Ebrahim et al. 2016, PMID: 27117407). Several families reported with AR deafness, however, in many reports, there is insufficient phenotyping to be certain an eye phenotype is absent.; to: Multiple transcripts with differential tissue expression exist for WHRN which are thought to explain the basis for distinct phenotypes. The long transcript is expressed in the retina, vestibule and cochlea, whereas the C-terminal transcript is expressed exclusively in the cochlea and vestibule and the N-terminal transcript is expressed exclusively in the retina (Ebrahim et al. 2016, PMID: 27117407).\r\n\r\nAssociation with Usher syndrome: DEFINITIVE by ClinGen, multiple families and animal models. Of note, the Whrn(neo/neo) mouse model, in which the N-terminal and long transcripts are ablated, leads to Usher syndrome (Mather et al. 2015, PMID: 26307081).\r\n\r\nAssociated with isolated AR deafness: MODERATE by ClinGen. Of note, the Whrn(wi/wi) model, which disrupts only the long and C-terminal transcripts, results in a mouse with profound hearing loss and severe vestibular defect without a retinal phenotype (Ebrahim et al. 2016, PMID: 27117407). The Whrn(tm1b/tm1b) model disrupts the C-terminal transcripts, resulting in a mouse with mild-hearing loss and no vestibular or retinal defects (Ebrahim et al. 2016, PMID: 27117407). Several families reported with AR deafness, however, in many reports, there is insufficient phenotyping to be certain an eye phenotype is absent.","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T15:52:46.497863+10:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.111","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141414, 22801503, 25499087, 24309268, 22801503, 26908597; Phenotypes: Amyotrophic lateral sclerosis 18 (MIM# 614808); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PFN1","entity_type":"gene"},{"created":"2020-10-01T15:51:50.733943+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4714","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141414, 22801503, 25499087, 24309268, 22801503, 26908597; Phenotypes: Amyotrophic lateral sclerosis 18 (MIM# 614808); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PFN1","entity_type":"gene"},{"created":"2020-10-01T14:02:08.111500+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.533","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483; Phenotypes: Usher syndrome, type 2D, MIM# 611383; Mode of inheritance: None","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-10-01T13:49:42.306484+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.533","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX3 as ready","entity_name":"PAX3","entity_type":"gene"}]}