{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1302","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1300","results":[{"created":"2021-06-10T18:43:15.160293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7908","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KNG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KNG1","entity_type":"gene"},{"created":"2021-06-10T18:42:58.536990+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7907","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KNG1 as Amber List (moderate evidence)","entity_name":"KNG1","entity_type":"gene"},{"created":"2021-06-10T18:42:58.525118+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7907","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kng1 has been classified as Amber List (Moderate Evidence).","entity_name":"KNG1","entity_type":"gene"},{"created":"2021-06-10T18:42:41.484159+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7906","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KNG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31087670, 33114181; Phenotypes: Hereditary angioedema-6 (HAE6), MIM#619363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KNG1","entity_type":"gene"},{"created":"2021-06-10T18:38:07.044420+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANGPT1 as ready","entity_name":"ANGPT1","entity_type":"gene"},{"created":"2021-06-10T18:38:07.034241+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: angpt1 has been classified as Amber List (Moderate Evidence).","entity_name":"ANGPT1","entity_type":"gene"},{"created":"2021-06-10T18:37:37.877237+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7906","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANGPT1 as ready","entity_name":"ANGPT1","entity_type":"gene"},{"created":"2021-06-10T18:37:37.867076+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7906","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: angpt1 has been classified as Amber List (Moderate Evidence).","entity_name":"ANGPT1","entity_type":"gene"},{"created":"2021-06-10T18:37:26.936109+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7906","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANGPT1 were changed from Hereditary angioedema to Hereditary angioedema-5 (HAE5), MIM#619361","entity_name":"ANGPT1","entity_type":"gene"},{"created":"2021-06-10T18:37:02.342512+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7905","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANGPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary angioedema-5 (HAE5), MIM#619361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANGPT1","entity_type":"gene"},{"created":"2021-06-10T18:36:58.023352+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANGPT1 were changed from Hereditary angioedema to Hereditary angioedema-5 (HAE5), MIM#619361","entity_name":"ANGPT1","entity_type":"gene"},{"created":"2021-06-10T18:35:36.401586+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANGPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary angioedema-5 (HAE5), MIM#619361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANGPT1","entity_type":"gene"},{"created":"2021-06-10T18:33:01.982797+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLG as ready","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:33:01.972136+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plg has been classified as Green List (High Evidence).","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:32:58.886836+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLG were changed from Plasminogen deficiency to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:32:44.676997+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLG were set to ","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:32:28.348282+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:32:14.685509+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 28795768, 29548426, 29987869, 9242524, 10233898, 21174000, 21174000; Phenotypes: Hereditary angioedema-4 (HAE4), MIM#619360, Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:26:28.090765+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLG as ready","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:26:28.080918+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plg has been classified as Green List (High Evidence).","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:26:15.444303+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLG were changed from  to Plasminogen deficiency, type I, MIM# 217090","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:11:54.901620+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLG were set to ","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:11:26.255674+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:11:02.737233+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9242524, 10233898, 21174000, 21174000; Phenotypes: Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:10:09.672748+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7905","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association between mono-allelic variants and HAE: Over 20 families reported with a recurrent variant, p.Lys330Glu. Single family reported with a different variant. Note bi-allelic variants are associated with a separate disorder.\r\n\r\nBi-allelic variants and plasminogen deficiency: congenital plasminogen deficiency is characterised clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. At least 3 unrelated families reported.; to: Association between mono-allelic variants and HAE: Over 20 families reported with a recurrent variant, p.Lys330Glu. Single family reported with a different variant. Note bi-allelic variants are associated with a separate disorder.\r\n\r\nBi-allelic variants and plasminogen deficiency: congenital plasminogen deficiency is characterised clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. Over 20 unrelated families reported.","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:09:55.803008+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7905","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLG: Changed publications: 28795768, 29548426, 29987869, 9242524, 10233898, 21174000, 21174000","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:08:21.623864+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7905","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLG as ready","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:08:21.614484+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7905","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plg has been classified as Green List (High Evidence).","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:08:09.293343+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7905","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLG were changed from  to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:07:48.683666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7904","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLG were set to ","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:07:28.167902+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7903","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T18:07:04.575845+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7902","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 28795768, 29548426, 29987869, 9242524, 10233898; Phenotypes: Hereditary angioedema-4 (HAE4), MIM#619360, Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T17:58:09.645784+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLG as ready","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T17:58:09.627971+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plg has been classified as Green List (High Evidence).","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T17:57:11.721337+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLG as Green List (high evidence)","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T17:57:11.711540+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plg has been classified as Green List (High Evidence).","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T17:56:40.117509+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLG: Changed rating: GREEN","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T17:56:33.495117+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLG was added\ngene: PLG was added to Hereditary angioedema. Sources: Expert list\nMode of inheritance for gene: PLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLG were set to 28795768; 29548426; 29987869\nPhenotypes for gene: PLG were set to Hereditary angioedema-4 (HAE4), MIM#619360\nAdded comment: Over 20 families reported with a recurrent variant, p.Lys330Glu. Single family reported with a different variant.\r\n\r\nNote bi-allelic variants are associated with a separate disorder. \nSources: Expert list","entity_name":"PLG","entity_type":"gene"},{"created":"2021-06-10T17:51:07.996864+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POU4F1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POU4F1","entity_type":"gene"},{"created":"2021-06-10T17:50:45.773373+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7902","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POU4F1 were changed from Ataxia; intention tremor; hypotonia to Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352","entity_name":"POU4F1","entity_type":"gene"},{"created":"2021-06-10T17:50:21.313846+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7901","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POU4F1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POU4F1","entity_type":"gene"},{"created":"2021-06-09T18:39:54.014244+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7901","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKD1 were changed from Congenital heart defects and ectodermal dysplasia, 617364 to Congenital heart defects and ectodermal dysplasia, 617364; Congenital heart disease, autosomal recessive","entity_name":"PRKD1","entity_type":"gene"},{"created":"2021-06-09T18:36:45.083862+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7900","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKD1 were set to 27479907; 32817298","entity_name":"PRKD1","entity_type":"gene"},{"created":"2021-06-09T18:36:23.267161+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7899","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRKD1","entity_type":"gene"},{"created":"2021-06-09T18:29:41.716566+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: WDR60.","entity_name":"WDR60","entity_type":"gene"},{"created":"2021-06-09T18:29:32.820029+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: WDR60","entity_name":"WDR60","entity_type":"gene"},{"created":"2021-06-09T18:28:37.936715+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: WDR34.","entity_name":"WDR34","entity_type":"gene"},{"created":"2021-06-09T18:28:28.754509+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: WDR34","entity_name":"WDR34","entity_type":"gene"},{"created":"2021-06-09T18:27:14.146868+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: VARS.","entity_name":"VARS","entity_type":"gene"},{"created":"2021-06-09T18:27:05.748023+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: VARS","entity_name":"VARS","entity_type":"gene"},{"created":"2021-06-09T18:26:31.937926+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: TMEM5.","entity_name":"TMEM5","entity_type":"gene"},{"created":"2021-06-09T18:26:23.812248+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: TMEM5","entity_name":"TMEM5","entity_type":"gene"},{"created":"2021-06-09T18:25:26.001937+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: RARS.","entity_name":"RARS","entity_type":"gene"},{"created":"2021-06-09T18:25:17.242916+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: RARS","entity_name":"RARS","entity_type":"gene"},{"created":"2021-06-09T18:24:50.447920+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: QARS.","entity_name":"QARS","entity_type":"gene"},{"created":"2021-06-09T18:24:40.052068+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: QARS","entity_name":"QARS","entity_type":"gene"},{"created":"2021-06-09T18:23:54.161950+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: PIH1D3.","entity_name":"PIH1D3","entity_type":"gene"},{"created":"2021-06-09T18:23:45.353023+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: PIH1D3","entity_name":"PIH1D3","entity_type":"gene"},{"created":"2021-06-09T18:23:15.745806+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: MUT.","entity_name":"MUT","entity_type":"gene"},{"created":"2021-06-09T18:23:07.079772+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: MUT","entity_name":"MUT","entity_type":"gene"},{"created":"2021-06-09T18:22:19.520342+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: MARS.","entity_name":"MARS","entity_type":"gene"},{"created":"2021-06-09T18:22:09.092754+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: MARS","entity_name":"MARS","entity_type":"gene"},{"created":"2021-06-09T18:21:43.046550+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ISPD.","entity_name":"ISPD","entity_type":"gene"},{"created":"2021-06-09T18:21:35.165383+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ISPD","entity_name":"ISPD","entity_type":"gene"},{"created":"2021-06-09T18:20:38.129507+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C5orf42.","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-09T18:20:29.838351+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: C5orf42","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-09T18:20:02.786681+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C21orf2.","entity_name":"C21orf2","entity_type":"gene"},{"created":"2021-06-09T18:19:53.475321+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: C21orf2","entity_name":"C21orf2","entity_type":"gene"},{"created":"2021-06-09T18:18:47.187349+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: APOPT1","entity_name":"APOPT1","entity_type":"gene"},{"created":"2021-06-09T18:18:27.583575+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: APOPT1.","entity_name":"APOPT1","entity_type":"gene"},{"created":"2021-06-09T18:13:34.722621+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3851","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGF were changed from Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-06-09T18:13:05.978829+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3850","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-06-09T18:12:42.215054+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7898","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGF were changed from Glycosylphosphatidylinositol\\  deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-06-09T18:12:21.807622+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7897","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-06-09T18:12:07.352600+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGF were changed from Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-06-09T18:11:30.532432+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGF: Changed rating: RED","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-06-09T18:11:24.264782+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGF: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-06-09T14:08:27.092337+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Sarah Righetti","item_type":"entity","text":"reviewed gene: SNORD118: Rating: RED; Mode of pathogenicity: None; Publications: 32361877, 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNORD118","entity_type":"gene"},{"created":"2021-06-09T14:05:10.538018+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Sarah Righetti","item_type":"entity","text":"Deleted their review","entity_name":"SNORD118","entity_type":"gene"},{"created":"2021-06-09T14:04:55.132018+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Sarah Righetti","item_type":"entity","text":"reviewed gene: SNORD118: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32361877, 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNORD118","entity_type":"gene"},{"created":"2021-06-08T20:05:17.068234+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7897","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRKD1: Added comment: Additional publications supporting association with bi-allelic disease:\r\n\r\nPMID: 33919081: Three sisters with pulmonary stenosis, truncus arteriosis, and atrial septal defect were homozygous for c.265-1G>T. Their asymptomatic father was also homozygous, however he had two affected sisters (not genotyped), raising the possibility that PRKD1 may undergo autosomal recessive inheritance mode with gender limitation. PMID: 25713110: Two sisters with truncus arteriosis were homozygous for R618X.; Changed publications: 27479907, 32817298, 25713110, 33919081; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRKD1","entity_type":"gene"},{"created":"2021-06-08T18:17:24.557003+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKD1 were changed from Congenital heart defects and ectodermal dysplasia, 617364 to Congenital heart defects and ectodermal dysplasia, 617364; Autosomal Recessive Congenital Heart Disease","entity_name":"PRKD1","entity_type":"gene"},{"created":"2021-06-08T18:16:54.855071+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKD1 were set to 27479907; 32817298","entity_name":"PRKD1","entity_type":"gene"},{"created":"2021-06-08T18:07:32.554238+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRKD1","entity_type":"gene"},{"created":"2021-06-08T16:50:15.170621+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.113","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25713110, 33919081; Phenotypes: Autosomal Recessive Congenital Heart Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRKD1","entity_type":"gene"},{"created":"2021-06-08T16:37:49.510451+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7897","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: ATXN2L as ready","entity_name":"ATXN2L","entity_type":"gene"},{"created":"2021-06-08T16:37:49.499072+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7897","user_name":"Seb Lunke","item_type":"entity","text":"Gene: atxn2l has been classified as Amber List (Moderate Evidence).","entity_name":"ATXN2L","entity_type":"gene"},{"created":"2021-06-08T16:37:05.343721+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7897","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: ATXN2L as Amber List (moderate evidence)","entity_name":"ATXN2L","entity_type":"gene"},{"created":"2021-06-08T16:37:05.329695+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7897","user_name":"Seb Lunke","item_type":"entity","text":"Gene: atxn2l has been classified as Amber List (Moderate Evidence).","entity_name":"ATXN2L","entity_type":"gene"},{"created":"2021-06-08T16:36:40.179193+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7896","user_name":"Seb Lunke","item_type":"entity","text":"gene: ATXN2L was added\ngene: ATXN2L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATXN2L were set to 33283965; 33057194\nPhenotypes for gene: ATXN2L were set to macrocephaly; intellectual disability\nReview for gene: ATXN2L was set to AMBER\nAdded comment: Sources: Literature","entity_name":"ATXN2L","entity_type":"gene"},{"created":"2021-06-08T16:27:15.128289+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7895","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: LTBP1 as ready","entity_name":"LTBP1","entity_type":"gene"},{"created":"2021-06-08T16:27:15.118732+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7895","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ltbp1 has been classified as Green List (High Evidence).","entity_name":"LTBP1","entity_type":"gene"},{"created":"2021-06-08T16:26:03.717074+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7895","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: LTBP1 as Green List (high evidence)","entity_name":"LTBP1","entity_type":"gene"},{"created":"2021-06-08T16:26:03.704221+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7895","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ltbp1 has been classified as Green List (High Evidence).","entity_name":"LTBP1","entity_type":"gene"},{"created":"2021-06-08T16:24:27.686575+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3850","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: BCAS3 as ready","entity_name":"BCAS3","entity_type":"gene"},{"created":"2021-06-08T16:24:27.675410+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3850","user_name":"Seb Lunke","item_type":"entity","text":"Gene: bcas3 has been classified as Green List (High Evidence).","entity_name":"BCAS3","entity_type":"gene"},{"created":"2021-06-08T16:23:55.151719+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3850","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: BCAS3 as Green List (high evidence)","entity_name":"BCAS3","entity_type":"gene"},{"created":"2021-06-08T16:23:55.142780+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3850","user_name":"Seb Lunke","item_type":"entity","text":"Gene: bcas3 has been classified as Green List (High Evidence).","entity_name":"BCAS3","entity_type":"gene"},{"created":"2021-06-08T16:19:35.006057+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7894","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC30A5 as Amber List (moderate evidence)","entity_name":"SLC30A5","entity_type":"gene"},{"created":"2021-06-08T16:19:34.994693+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7894","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc30a5 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A5","entity_type":"gene"}]}