{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1678","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1676","results":[{"created":"2020-08-11T13:00:43.850464+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3746","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTN1","entity_type":"gene"},{"created":"2020-08-11T13:00:27.532289+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3745","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23434115; Phenotypes: Bleeding disorder, platelet-type, 15, MIM# 615193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTN1","entity_type":"gene"},{"created":"2020-08-11T12:59:31.313133+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTN1 as ready","entity_name":"ACTN1","entity_type":"gene"},{"created":"2020-08-11T12:59:31.304872+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actn1 has been classified as Green List (High Evidence).","entity_name":"ACTN1","entity_type":"gene"},{"created":"2020-08-11T12:59:28.002904+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACTN1 as Green List (high evidence)","entity_name":"ACTN1","entity_type":"gene"},{"created":"2020-08-11T12:59:27.992901+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actn1 has been classified as Green List (High Evidence).","entity_name":"ACTN1","entity_type":"gene"},{"created":"2020-08-11T12:59:00.854759+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTN1 was added\ngene: ACTN1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTN1 were set to 23434115\nPhenotypes for gene: ACTN1 were set to Bleeding disorder, platelet-type, 15, MIM#\t615193\nReview for gene: ACTN1 was set to GREEN\nAdded comment: At least 6 unrelated families reported. \nSources: Expert list","entity_name":"ACTN1","entity_type":"gene"},{"created":"2020-08-11T12:56:24.885567+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy. \nSources: Expert list; to: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB (exons 5 and 6) and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy. \r\nSources: Expert list","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-08-11T12:56:09.338485+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTB as ready","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-08-11T12:56:09.328087+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actb has been classified as Green List (High Evidence).","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-08-11T12:56:06.650744+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACTB as Green List (high evidence)","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-08-11T12:56:06.640858+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actb has been classified as Green List (High Evidence).","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-08-11T12:55:39.721873+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTB was added\ngene: ACTB was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTB were set to 30315159\nPhenotypes for gene: ACTB were set to Syndromic thrombocytopaenia\nReview for gene: ACTB was set to GREEN\nAdded comment: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy. \nSources: Expert list","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-08-11T12:52:33.537882+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTA2 as ready","entity_name":"ACTA2","entity_type":"gene"},{"created":"2020-08-11T12:52:33.528698+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acta2 has been classified as Green List (High Evidence).","entity_name":"ACTA2","entity_type":"gene"},{"created":"2020-08-11T12:52:31.237188+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTA2 were changed from  to Aortic aneurysm, familial thoracic 6, MIM# 611788","entity_name":"ACTA2","entity_type":"gene"},{"created":"2020-08-11T12:52:04.264297+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTA2","entity_type":"gene"},{"created":"2020-08-11T12:51:41.361614+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTA2","entity_type":"gene"},{"created":"2020-08-11T12:47:51.593693+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCG8 as ready","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-11T12:47:51.582303+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcg8 has been classified as Green List (High Evidence).","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-11T12:47:46.901864+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCG8 as Green List (high evidence)","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-11T12:47:46.891794+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcg8 has been classified as Green List (High Evidence).","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-11T12:47:16.789518+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCG8 was added\ngene: ABCG8 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCG8 were set to 32546081; 23556150\nPhenotypes for gene: ABCG8 were set to Sitosterolemia 1, MIM#\t210250\nReview for gene: ABCG8 was set to GREEN\nAdded comment: Thrombocytopaenia is a feature of this metabolic disorder. \nSources: Expert list","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-08-11T12:45:52.644991+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCG5 as ready","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-11T12:45:52.636324+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcg5 has been classified as Green List (High Evidence).","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-11T12:45:49.173139+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCG5 as Green List (high evidence)","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-11T12:45:49.162830+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcg5 has been classified as Green List (High Evidence).","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-11T12:45:21.923266+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCG5 was added\ngene: ABCG5 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCG5 were set to 32546081; 23556150\nPhenotypes for gene: ABCG5 were set to Sitosterolemia 2, MIM#\t618666\nReview for gene: ABCG5 was set to GREEN\nAdded comment: Thrombocytopaenia is a feature of this metabolic disorder. \nSources: Expert list","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-08-11T12:13:55.554805+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL17A1 as ready","entity_name":"COL17A1","entity_type":"gene"},{"created":"2020-08-11T12:13:55.546002+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col17a1 has been classified as Green List (High Evidence).","entity_name":"COL17A1","entity_type":"gene"},{"created":"2020-08-11T12:13:52.760089+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL17A1 were changed from  to Epidermolysis bullosa, junctional, localisata variant, MIM# 226650; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epithelial recurrent erosion dystrophy, MIM# 122400","entity_name":"COL17A1","entity_type":"gene"},{"created":"2020-08-11T12:13:29.906677+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL17A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL17A1","entity_type":"gene"},{"created":"2020-08-11T12:13:05.974577+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, localisata variant, MIM# 226650, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epithelial recurrent erosion dystrophy, MIM# 122400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL17A1","entity_type":"gene"},{"created":"2020-08-11T12:11:35.755678+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERPINB8 as ready","entity_name":"SERPINB8","entity_type":"gene"},{"created":"2020-08-11T12:11:35.738980+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpinb8 has been classified as Amber List (Moderate Evidence).","entity_name":"SERPINB8","entity_type":"gene"},{"created":"2020-08-11T12:11:29.471308+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SERPINB8 as Amber List (moderate evidence)","entity_name":"SERPINB8","entity_type":"gene"},{"created":"2020-08-11T12:11:29.461549+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpinb8 has been classified as Amber List (Moderate Evidence).","entity_name":"SERPINB8","entity_type":"gene"},{"created":"2020-08-11T12:11:02.671751+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SERPINB8 was added\ngene: SERPINB8 was added to Epidermolysis bullosa. Sources: Expert list\nMode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERPINB8 were set to 27476651\nPhenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5 (MIM#617115)\nReview for gene: SERPINB8 was set to AMBER\nAdded comment: PMID:27476651 describes 3 families with what they refer to as exfoliative ichthyosis. Histological analysis of a skin biopsy showed disadhesion of keratinocytes in the lower epidermal layers. In vitro studies showed that in the absence of the protein, there is a cell-cell adhesion defect, supportive of this being a skin fragility disorder. Phenotype sits between ichthyosis and skin fragility, hence rated Amber on this panel. \nSources: Expert list","entity_name":"SERPINB8","entity_type":"gene"},{"created":"2020-08-11T12:05:06.017504+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3745","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSG3 as ready","entity_name":"DSG3","entity_type":"gene"},{"created":"2020-08-11T12:05:06.007597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3745","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsg3 has been classified as Red List (Low Evidence).","entity_name":"DSG3","entity_type":"gene"},{"created":"2020-08-11T12:04:57.453014+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3745","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DSG3 was added\ngene: DSG3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DSG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DSG3 were set to 30528827\nPhenotypes for gene: DSG3 were set to Mucosal blistering\nReview for gene: DSG3 was set to RED\nAdded comment: One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*). \nSources: Expert list","entity_name":"DSG3","entity_type":"gene"},{"created":"2020-08-11T12:03:31.690660+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSG3 as ready","entity_name":"DSG3","entity_type":"gene"},{"created":"2020-08-11T12:03:31.678380+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsg3 has been classified as Red List (Low Evidence).","entity_name":"DSG3","entity_type":"gene"},{"created":"2020-08-11T12:03:24.680894+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DSG3 was added\ngene: DSG3 was added to Epidermolysis bullosa. Sources: Expert list\nMode of inheritance for gene: DSG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DSG3 were set to 30528827\nPhenotypes for gene: DSG3 were set to Mucosal blistering\nReview for gene: DSG3 was set to RED\nAdded comment: One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*). \nSources: Expert list","entity_name":"DSG3","entity_type":"gene"},{"created":"2020-08-11T10:26:42.949092+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3744","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGA9 as ready","entity_name":"ITGA9","entity_type":"gene"},{"created":"2020-08-11T10:26:42.938035+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3744","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itga9 has been classified as Red List (Low Evidence).","entity_name":"ITGA9","entity_type":"gene"},{"created":"2020-08-11T10:26:33.573655+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3744","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGA9 as Red List (low evidence)","entity_name":"ITGA9","entity_type":"gene"},{"created":"2020-08-11T10:26:33.558592+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3744","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itga9 has been classified as Red List (Low Evidence).","entity_name":"ITGA9","entity_type":"gene"},{"created":"2020-08-11T10:26:15.864793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3743","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITGA9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ITGA9","entity_type":"gene"},{"created":"2020-08-10T17:02:53.364774+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Cancer Germline; SA Pathology; Adult Genetics Unit, Royal Adelaide Hospital","entity_name":null,"entity_type":null},{"created":"2020-08-10T17:02:14.257173+10:00","panel_name":"Medulloblastoma","panel_id":3280,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Cancer Germline; SA Pathology; Adult Genetics Unit, Royal Adelaide Hospital","entity_name":null,"entity_type":null},{"created":"2020-08-10T16:25:43.296343+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSTB as ready","entity_name":"CSTB","entity_type":"gene"},{"created":"2020-08-10T16:25:43.287404+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cstb has been classified as Amber List (Moderate Evidence).","entity_name":"CSTB","entity_type":"gene"},{"created":"2020-08-10T16:25:39.279933+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSTB as Amber List (moderate evidence)","entity_name":"CSTB","entity_type":"gene"},{"created":"2020-08-10T16:25:39.270031+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cstb has been classified as Amber List (Moderate Evidence).","entity_name":"CSTB","entity_type":"gene"},{"created":"2020-08-10T16:25:14.310642+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CSTB.","entity_name":"CSTB","entity_type":"gene"},{"created":"2020-08-10T16:25:06.884444+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3743","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: None; Publications: 28457472; Phenotypes: Keratolytic winter erythema (MIM#148370); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"CSTB","entity_type":"gene"},{"created":"2020-08-10T16:23:00.665519+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.36","user_name":"Ain Roesley","item_type":"entity","text":"gene: CSTB was added\ngene: CSTB was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: CSTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CSTB were set to 28457472\nPhenotypes for gene: CSTB were set to Keratolytic winter erythema\t(MIM#148370)\nPenetrance for gene: CSTB were set to unknown\nReview for gene: CSTB was set to AMBER\nAdded comment: PMID: 28457472; CNV\r\n- 7 South African families with keratolytic winter erythema. Identified a noncoding 7.67-kb tandem duplication on chromosome 8 that segregated with disease and was not found in 127 controls.\r\n- This region overlaps with an enhancer element which correlated with CTSB expression\r\n- qPCR analysis and immunohistochemistry of the palmar epidermis demonstrated significantly increased expression of CTSB, as well as stronger staining of cathepsin B in the stratum granulosum of affected individuals than in that of control \nSources: Literature","entity_name":"CSTB","entity_type":"gene"},{"created":"2020-08-10T16:20:14.815467+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKBKG as ready","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-08-10T16:20:14.799893+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbkg has been classified as Green List (High Evidence).","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-08-10T16:20:08.691543+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKBKG as Green List (high evidence)","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-08-10T16:20:08.683629+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbkg has been classified as Green List (High Evidence).","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-08-10T16:19:39.476250+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: IKBKG.","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-08-10T16:19:09.698752+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSG1 as ready","entity_name":"DSG1","entity_type":"gene"},{"created":"2020-08-10T16:19:09.687757+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsg1 has been classified as Amber List (Moderate Evidence).","entity_name":"DSG1","entity_type":"gene"},{"created":"2020-08-10T16:19:04.521138+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DSG1 as Amber List (moderate evidence)","entity_name":"DSG1","entity_type":"gene"},{"created":"2020-08-10T16:19:04.511245+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsg1 has been classified as Amber List (Moderate Evidence).","entity_name":"DSG1","entity_type":"gene"},{"created":"2020-08-10T16:17:26.040040+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT1 as ready","entity_name":"KRT1","entity_type":"gene"},{"created":"2020-08-10T16:17:25.990215+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt1 has been classified as Green List (High Evidence).","entity_name":"KRT1","entity_type":"gene"},{"created":"2020-08-10T16:17:21.270055+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KRT1 as Green List (high evidence)","entity_name":"KRT1","entity_type":"gene"},{"created":"2020-08-10T16:17:21.259097+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt1 has been classified as Green List (High Evidence).","entity_name":"KRT1","entity_type":"gene"},{"created":"2020-08-10T16:16:31.297325+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSC3 as ready","entity_name":"DSC3","entity_type":"gene"},{"created":"2020-08-10T16:16:31.286192+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsc3 has been classified as Amber List (Moderate Evidence).","entity_name":"DSC3","entity_type":"gene"},{"created":"2020-08-10T16:16:25.543740+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DSC3 as Amber List (moderate evidence)","entity_name":"DSC3","entity_type":"gene"},{"created":"2020-08-10T16:16:25.533169+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsc3 has been classified as Amber List (Moderate Evidence).","entity_name":"DSC3","entity_type":"gene"},{"created":"2020-08-10T16:15:21.503955+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSTA as ready","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-08-10T16:15:21.490906+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csta has been classified as Green List (High Evidence).","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-08-10T16:15:18.469321+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSTA as Green List (high evidence)","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-08-10T16:15:18.459116+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csta has been classified as Green List (High Evidence).","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-08-10T16:14:34.458829+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDSN as ready","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-08-10T16:14:34.450458+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdsn has been classified as Green List (High Evidence).","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-08-10T16:14:28.727329+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDSN as Green List (high evidence)","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-08-10T16:14:28.717256+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdsn has been classified as Green List (High Evidence).","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-08-10T16:13:50.868918+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.30","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Well-established gene-disease association. \r\n\r\nAssociated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK. \nSources: Literature; to: Well-established gene-disease association. \r\n\r\nAssociated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK. \r\n\r\nEHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel.\r\nSources: Literature","entity_name":"KRT10","entity_type":"gene"},{"created":"2020-08-10T16:13:37.897768+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT10 as ready","entity_name":"KRT10","entity_type":"gene"},{"created":"2020-08-10T16:13:37.887187+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt10 has been classified as Green List (High Evidence).","entity_name":"KRT10","entity_type":"gene"},{"created":"2020-08-10T16:13:33.468393+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KRT10 as Green List (high evidence)","entity_name":"KRT10","entity_type":"gene"},{"created":"2020-08-10T16:13:33.460146+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt10 has been classified as Green List (High Evidence).","entity_name":"KRT10","entity_type":"gene"},{"created":"2020-08-10T16:11:53.820369+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAST as ready","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-10T16:11:53.810491+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cast has been classified as Green List (High Evidence).","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-10T16:11:42.848989+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAST as Green List (high evidence)","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-10T16:11:42.840905+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cast has been classified as Green List (High Evidence).","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-10T16:10:56.883911+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP2A2 as ready","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2020-08-10T16:10:56.872510+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp2a2 has been classified as Green List (High Evidence).","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2020-08-10T16:10:50.132854+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP2A2 as Green List (high evidence)","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2020-08-10T16:10:50.124354+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp2a2 has been classified as Green List (High Evidence).","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2020-08-10T16:08:44.906598+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC39A4 as ready","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2020-08-10T16:08:44.897019+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc39a4 has been classified as Green List (High Evidence).","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2020-08-10T16:08:44.633418+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3743","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ATP2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28551824; Phenotypes: Hailey-Hailey disease (MIM# 169600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP2C1","entity_type":"gene"},{"created":"2020-08-10T16:08:41.280458+10:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC39A4 as Green List (high evidence)","entity_name":"SLC39A4","entity_type":"gene"}]}