{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1501","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1499","results":[{"created":"2020-11-20T09:19:21.086586+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmb4 has been classified as Amber List (Moderate Evidence).","entity_name":"PSMB4","entity_type":"gene"},{"created":"2020-11-20T09:19:15.241807+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSMB4 as Amber List (moderate evidence)","entity_name":"PSMB4","entity_type":"gene"},{"created":"2020-11-20T09:19:15.228709+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmb4 has been classified as Amber List (Moderate Evidence).","entity_name":"PSMB4","entity_type":"gene"},{"created":"2020-11-20T09:17:53.928686+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSMB4 was added\ngene: PSMB4 was added to Lipodystrophy_Lipoatrophy. Sources: Expert list\nMode of inheritance for gene: PSMB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMB4 were set to 26524591\nPhenotypes for gene: PSMB4 were set to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM#\t617591\nReview for gene: PSMB4 was set to AMBER\nAdded comment: Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anaemia, thrombocytopaenia, recurrent infections, autoantibodies, and hypergammaglobulinaemia. Some may have intracranial calcifications.\r\n\r\nOne individual with bi-allelic variants, and two others with mono-allelic variants in PSMB4 as well as variants in PSMB9 or PSMB8, digenic model proposed. \nSources: Expert list","entity_name":"PSMB4","entity_type":"gene"},{"created":"2020-11-20T08:59:34.702730+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: ANAPC1.","entity_name":"ANAPC1","entity_type":"gene"},{"created":"2020-11-20T08:59:24.374592+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund Thomson syndrome type 1, OMIM 618625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANAPC1","entity_type":"gene"},{"created":"2020-11-20T08:58:46.616750+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5392","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: ANAPC1.","entity_name":"ANAPC1","entity_type":"gene"},{"created":"2020-11-20T08:58:33.238783+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5392","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund-Thomson syndrome, type 1 618625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANAPC1","entity_type":"gene"},{"created":"2020-11-19T10:47:06.589624+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5392","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DZIP1 were changed from Mitral valve prolapse, MIM#610840 to Mitral valve prolapse, MIM#610840; Spermatogenic failure 47, MIM#\t619102","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:46:48.043735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5391","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DZIP1 were set to 31118289","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:46:28.497640+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5390","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DZIP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:46:08.643817+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5389","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: One large 4-generation family reported, where missense variant segregated with disease. Two additional individuals identified from a cohort. All variants present at low frequency in population databases. Mouse model recapitulated phenotype. \nSources: Literature; to: Association with MVP: One large 4-generation family reported, where missense variant segregated with disease. Two additional individuals identified from a cohort. All variants present at low frequency in population databases. Mouse model recapitulated phenotype. \r\nSources: Literature","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:45:56.084399+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5389","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DZIP1: Added comment: Two individuals reported in PMID 32051257 with bi-allelic variants and spermatogenic failure.; Changed publications: 31118289, 32051257; Changed phenotypes: Mitral valve prolapse, MIM#610840, Spermatogenic failure 47, MIM# 619102; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:27:41.017832+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5389","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DZIP1 as ready","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:27:41.008018+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dzip1 has been classified as Amber List (Moderate Evidence).","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:27:16.679931+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5389","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DZIP1 were changed from Mitral valve prolapse to Mitral valve prolapse, MIM#610840","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:26:55.280438+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5388","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DZIP1 as Amber List (moderate evidence)","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:26:55.272115+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dzip1 has been classified as Amber List (Moderate Evidence).","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:26:37.199070+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5387","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DZIP1: Changed phenotypes: Mitral valve prolapse, MIM#610840","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-19T10:26:21.119767+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5387","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DZIP1 was added\ngene: DZIP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DZIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DZIP1 were set to 31118289\nPhenotypes for gene: DZIP1 were set to Mitral valve prolapse\nReview for gene: DZIP1 was set to AMBER\nAdded comment: One large 4-generation family reported, where missense variant segregated with disease. Two additional individuals identified from a cohort. All variants present at low frequency in population databases. Mouse model recapitulated phenotype. \nSources: Literature","entity_name":"DZIP1","entity_type":"gene"},{"created":"2020-11-18T14:37:21.356177+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADH5 as ready","entity_name":"ADH5","entity_type":"gene"},{"created":"2020-11-18T14:37:21.345589+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adh5 has been classified as Green List (High Evidence).","entity_name":"ADH5","entity_type":"gene"},{"created":"2020-11-18T14:37:10.522911+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADH5 as ready","entity_name":"ADH5","entity_type":"gene"},{"created":"2020-11-18T14:37:10.511610+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adh5 has been classified as Green List (High Evidence).","entity_name":"ADH5","entity_type":"gene"},{"created":"2020-11-18T14:37:00.901642+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5386","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADH5 as Green List (high evidence)","entity_name":"ADH5","entity_type":"gene"},{"created":"2020-11-18T14:37:00.894063+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adh5 has been classified as Green List (High Evidence).","entity_name":"ADH5","entity_type":"gene"},{"created":"2020-11-18T14:36:39.782286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5385","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADH5 was added\ngene: ADH5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADH5 were set to 33147438\nPhenotypes for gene: ADH5 were set to Aplastic anaemia; myelodysplasia; short stature\nReview for gene: ADH5 was set to GREEN\nAdded comment: 7 individuals reported with bi-allelic variants in this gene and a Fanconi syndrome-like phenotype. All had aplastic anaemia, 4 developed a myelodysplastic syndrome, and one developed AML. Short stature and abnormal skin pigmentation were additional features. \r\n\r\nNote, all also had the ALDH2*2 allele, which is common in East Asian populations, and may be contributory.\r\n\r\nExtensive experimental data. \nSources: Literature","entity_name":"ADH5","entity_type":"gene"},{"created":"2020-11-18T14:35:52.500547+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADH5 as Green List (high evidence)","entity_name":"ADH5","entity_type":"gene"},{"created":"2020-11-18T14:35:52.489892+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adh5 has been classified as Green List (High Evidence).","entity_name":"ADH5","entity_type":"gene"},{"created":"2020-11-18T14:34:22.852051+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADH5 was added\ngene: ADH5 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: ADH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADH5 were set to 33147438\nPhenotypes for gene: ADH5 were set to Aplastic anaemia; myelodysplasia; short stature\nReview for gene: ADH5 was set to GREEN\nAdded comment: 7 individuals reported with bi-allelic variants in this gene and a Fanconi syndrome-like phenotype. All had aplastic anaemia, 4 developed a myelodysplastic syndrome, and one developed AML. Short stature and abnormal skin pigmentation were additional features.\r\n\r\nNote, all also had the ALDH2*2 allele, which is common in East Asian populations, and may be contributory.\r\n\r\nExtensive experimental data. \nSources: Literature","entity_name":"ADH5","entity_type":"gene"},{"created":"2020-11-18T12:25:24.821072+11:00","panel_name":"Malignant Hyperthermia Susceptibility","panel_id":3378,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2020-11-18T12:17:49.086616+11:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2020-11-18T12:15:50.099624+11:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-11-18T11:51:07.747185+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RFC1 as No list","entity_name":"RFC1","entity_type":"gene"},{"created":"2020-11-18T11:51:07.742039+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: STR is the only reported cause of condition. It is present under the STRs in this panel.","entity_name":"RFC1","entity_type":"gene"},{"created":"2020-11-18T11:51:07.697474+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rfc1 has been removed from the panel.","entity_name":"RFC1","entity_type":"gene"},{"created":"2020-11-18T11:49:35.084454+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: CANVAS as Green List (high evidence)","entity_name":"CANVAS","entity_type":"str"},{"created":"2020-11-18T11:49:35.073330+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"entity","text":"Str: canvas has been classified as Green List (High Evidence).","entity_name":"CANVAS","entity_type":"str"},{"created":"2020-11-18T11:47:15.068691+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"entity","text":"STR: CANVAS was added\nSTR: CANVAS was added to Hereditary Neuropathy - complex. Sources: Expert list\nSTR tags were added to STR: CANVAS.\nMode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CANVAS were set to 30926972\nPhenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575\nReview for STR: CANVAS was set to GREEN\nSTR: CANVAS was marked as clinically relevant\nSTR: CANVAS was marked as current diagnostic\nAdded comment: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease. \nSources: Expert list","entity_name":"CANVAS","entity_type":"str"},{"created":"2020-11-17T15:40:25.496596+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNCA as ready","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:40:25.485513+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snca has been classified as Green List (High Evidence).","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:40:10.357331+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNCA were changed from  to Dementia, Lewy body (MIM#127750); Parkinson disease 1 (MIM#168601); Parkinson disease 4 (MIM#605543)","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:39:40.771299+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNCA were set to ","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:39:11.978407+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNCA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:38:46.395104+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SNCA.","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:38:38.318463+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32849182, 26858591, 32740728; Phenotypes: Dementia, Lewy body (MIM#127750), Parkinson disease 1 (MIM#168601), Parkinson disease 4 (MIM#605543); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:37:58.336690+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNCA as ready","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:37:58.327280+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snca has been classified as Green List (High Evidence).","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:37:55.410138+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNCA were changed from  to Dementia, Lewy body (MIM#127750); Parkinson disease 1 (MIM#168601); Parkinson disease 4 (MIM#605543)","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:37:22.310389+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNCA were set to ","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:36:50.199235+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNCA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:36:17.340179+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32849182, 26858591, 32740728; Phenotypes: Dementia, Lewy body (MIM#127750), Parkinson disease 1 (MIM#168601), Parkinson disease 4 (MIM#605543); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:35:14.000266+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNCA as ready","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:35:13.987186+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snca has been classified as Green List (High Evidence).","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:35:10.050851+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNCA were changed from  to Dementia, Lewy body (MIM#127750); Parkinson disease 1 (MIM#168601); Parkinson disease 4 (MIM#605543)","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:34:38.099640+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNCA were set to ","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:34:05.283181+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNCA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T15:33:34.261017+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SNCA.","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T14:45:21.281445+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.89","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32849182, 26858591, 32740728; Phenotypes: Dementia, Lewy body (MIM#127750), Parkinson disease 1 (MIM#168601), Parkinson disease 4 (MIM#605543); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNCA","entity_type":"gene"},{"created":"2020-11-17T12:32:24.338683+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHS2 as ready","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T12:32:24.322219+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphs2 has been classified as Green List (High Evidence).","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T12:15:45.878501+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHS2 were changed from  to Nephrotic syndrome, type 2 (MIM#600995), AR","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T12:14:42.822131+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPHS2 were set to ","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T12:14:10.471510+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T12:13:38.420852+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 30260545, 24509478; Phenotypes: Nephrotic syndrome, type 2 (MIM#600995), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T12:12:27.191170+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHS2 as ready","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T12:12:27.182375+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphs2 has been classified as Green List (High Evidence).","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T12:12:19.951834+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5384","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHS2 were changed from  to Nephrotic syndrome, type 2 (MIM#600995), AR","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T12:11:59.426244+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5383","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPHS2 were set to ","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T12:11:39.438606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5382","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T09:21:48.510023+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5381","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 30260545, 24509478; Phenotypes: Nephrotic syndrome, type 2 (MIM#600995), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NPHS2","entity_type":"gene"},{"created":"2020-11-17T06:23:26.534410+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RYR1 as ready","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-11-17T06:23:26.525909+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ryr1 has been classified as Green List (High Evidence).","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-11-17T06:23:21.783210+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RYR1 as Green List (high evidence)","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-11-17T06:23:21.772701+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ryr1 has been classified as Green List (High Evidence).","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-11-17T06:23:07.151538+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLG as ready","entity_name":"POLG","entity_type":"gene"},{"created":"2020-11-17T06:23:07.143848+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Green List (High Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2020-11-17T06:23:03.244964+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLG as Green List (high evidence)","entity_name":"POLG","entity_type":"gene"},{"created":"2020-11-17T06:23:03.233371+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Green List (High Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2020-11-17T06:22:39.960322+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH2 as ready","entity_name":"MYH2","entity_type":"gene"},{"created":"2020-11-17T06:22:39.948698+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh2 has been classified as Green List (High Evidence).","entity_name":"MYH2","entity_type":"gene"},{"created":"2020-11-17T06:22:36.745493+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH2 were changed from  to Proximal myopathy and ophthalmoplegia, MIM# 605637","entity_name":"MYH2","entity_type":"gene"},{"created":"2020-11-17T06:22:26.763756+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYH2 as Green List (high evidence)","entity_name":"MYH2","entity_type":"gene"},{"created":"2020-11-17T06:22:26.753850+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh2 has been classified as Green List (High Evidence).","entity_name":"MYH2","entity_type":"gene"},{"created":"2020-11-17T06:22:16.530858+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia, MIM# 605637; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYH2","entity_type":"gene"},{"created":"2020-11-17T06:20:55.125046+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TYMP","entity_type":"gene"},{"created":"2020-11-17T06:20:33.334006+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TYMP as ready","entity_name":"TYMP","entity_type":"gene"},{"created":"2020-11-17T06:20:33.326155+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tymp has been classified as Green List (High Evidence).","entity_name":"TYMP","entity_type":"gene"},{"created":"2020-11-17T06:20:28.591523+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TYMP as Green List (high evidence)","entity_name":"TYMP","entity_type":"gene"},{"created":"2020-11-17T06:20:28.581764+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tymp has been classified as Green List (High Evidence).","entity_name":"TYMP","entity_type":"gene"},{"created":"2020-11-17T06:19:50.322385+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPC1 as ready","entity_name":"NPC1","entity_type":"gene"},{"created":"2020-11-17T06:19:50.310732+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npc1 has been classified as Green List (High Evidence).","entity_name":"NPC1","entity_type":"gene"},{"created":"2020-11-17T06:19:46.255619+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPC1 as Green List (high evidence)","entity_name":"NPC1","entity_type":"gene"},{"created":"2020-11-17T06:19:46.244571+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npc1 has been classified as Green List (High Evidence).","entity_name":"NPC1","entity_type":"gene"},{"created":"2020-11-17T06:19:24.564217+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TWNK as ready","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-11-17T06:19:24.553738+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: twnk has been classified as Green List (High Evidence).","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-11-17T06:19:17.754561+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TWNK as Green List (high evidence)","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-11-17T06:19:17.743090+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: twnk has been classified as Green List (High Evidence).","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-11-16T22:18:47.395033+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.59","user_name":"Shannon LeBlanc","item_type":"entity","text":"gene: TWNK was added\ngene: TWNK was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TWNK were set to PMID 17921179; 32234020\nPhenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286\nReview for gene: TWNK was set to GREEN\nAdded comment: Mitochondrial DNA depletion syndrome-7: biallelic, severe neurodegenerative disorder characterized primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy. Infantile onset\r\n\r\nPMID: 32234020: Fig 1 shows the variant distribution for various phenotypes \nSources: Literature","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-11-16T21:51:03.298325+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.59","user_name":"Shannon LeBlanc","item_type":"entity","text":"gene: NPC1 was added\ngene: NPC1 was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease, type C, 257220\nReview for gene: NPC1 was set to GREEN\nAdded comment: Well established gene-disease association. \r\n\r\nVertical supranuclear gaze palsy is an early manifestation in childhood-onset type. \nSources: Literature","entity_name":"NPC1","entity_type":"gene"}]}