{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1418","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1416","results":[{"created":"2021-02-07T12:56:48.578213+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.257","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MTRR was added\ngene: MTRR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTRR were set to 27604308; 9501215\nPhenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type MIM#236270; Disorders of the metabolism of sulphur amino acids\nReview for gene: MTRR was set to GREEN\ngene: MTRR was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). Homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sulphur amino acid metabolism. \nSources: NHS GMS","entity_name":"MTRR","entity_type":"gene"},{"created":"2021-02-07T12:50:32.275585+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.256","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MTR as ready","entity_name":"MTR","entity_type":"gene"},{"created":"2021-02-07T12:50:32.264823+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.256","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtr has been classified as Green List (High Evidence).","entity_name":"MTR","entity_type":"gene"},{"created":"2021-02-07T12:49:41.455427+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.256","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MTR as Green List (high evidence)","entity_name":"MTR","entity_type":"gene"},{"created":"2021-02-07T12:49:41.442233+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.256","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtr has been classified as Green List (High Evidence).","entity_name":"MTR","entity_type":"gene"},{"created":"2021-02-07T12:49:28.377324+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.255","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MTR was added\ngene: MTR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTR were set to 8968735; 27604308\nPhenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940; Organic aciduria\nReview for gene: MTR was set to GREEN\ngene: MTR was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). Methionine synthase deficiency-cblG is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sulphur amino acid metabolism. \nSources: NHS GMS","entity_name":"MTR","entity_type":"gene"},{"created":"2021-02-07T12:41:29.317020+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.254","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MTHFR as ready","entity_name":"MTHFR","entity_type":"gene"},{"created":"2021-02-07T12:41:29.306425+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.254","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mthfr has been classified as Green List (High Evidence).","entity_name":"MTHFR","entity_type":"gene"},{"created":"2021-02-07T12:41:22.264740+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.254","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MTHFR as Green List (high evidence)","entity_name":"MTHFR","entity_type":"gene"},{"created":"2021-02-07T12:41:22.257345+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.254","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mthfr has been classified as Green List (High Evidence).","entity_name":"MTHFR","entity_type":"gene"},{"created":"2021-02-07T12:41:12.260542+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.253","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MTHFR was added\ngene: MTHFR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFR were set to 27604308; 7920641\nPhenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency MIM#236250; Disorders of folate metabolism and transport\nReview for gene: MTHFR was set to GREEN\ngene: MTHFR was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). Homocystinuria due to MTHFR deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of folate metabolism. \nSources: NHS GMS","entity_name":"MTHFR","entity_type":"gene"},{"created":"2021-02-07T12:36:55.258241+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.252","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MSMO1 as ready","entity_name":"MSMO1","entity_type":"gene"},{"created":"2021-02-07T12:36:55.248071+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.252","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msmo1 has been classified as Green List (High Evidence).","entity_name":"MSMO1","entity_type":"gene"},{"created":"2021-02-07T12:36:44.526000+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.252","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MSMO1 as Green List (high evidence)","entity_name":"MSMO1","entity_type":"gene"},{"created":"2021-02-07T12:36:44.515998+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.252","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msmo1 has been classified as Green List (High Evidence).","entity_name":"MSMO1","entity_type":"gene"},{"created":"2021-02-07T12:36:34.135179+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.251","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MSMO1 was added\ngene: MSMO1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSMO1 were set to 27604308; 21285510; 24144731; 33161406; 28673550\nPhenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols\nReview for gene: MSMO1 was set to GREEN\ngene: MSMO1 was marked as current diagnostic\nAdded comment: 5 cases in 4 unrelated families reported, with supporting biochemical assays demonstrating an inborn error of sterol metabolism. \nSources: NHS GMS","entity_name":"MSMO1","entity_type":"gene"},{"created":"2021-02-07T12:26:39.640982+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.250","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MOCS2 as ready","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-02-07T12:26:39.629975+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.250","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mocs2 has been classified as Green List (High Evidence).","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-02-07T12:26:36.340949+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.250","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MOCS2 as Green List (high evidence)","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-02-07T12:26:36.327048+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.250","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mocs2 has been classified as Green List (High Evidence).","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-02-07T12:26:26.403710+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.249","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MOCS2 was added\ngene: MOCS2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOCS2 were set to 27604308; 10053004\nPhenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism\nReview for gene: MOCS2 was set to GREEN\ngene: MOCS2 was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). Molybdenum cofactor deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of non-protein vitamin cofactor metabolism. \nSources: NHS GMS","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-02-07T12:24:03.740131+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.248","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MOCS1 as ready","entity_name":"MOCS1","entity_type":"gene"},{"created":"2021-02-07T12:24:03.732392+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.248","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mocs1 has been classified as Green List (High Evidence).","entity_name":"MOCS1","entity_type":"gene"},{"created":"2021-02-07T12:24:00.073989+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.248","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MOCS1 as Green List (high evidence)","entity_name":"MOCS1","entity_type":"gene"},{"created":"2021-02-07T12:24:00.066119+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.248","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mocs1 has been classified as Green List (High Evidence).","entity_name":"MOCS1","entity_type":"gene"},{"created":"2021-02-07T12:23:47.749372+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.247","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MOCS1 was added\ngene: MOCS1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOCS1 were set to 27604308; 9731530\nPhenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A MIM#252150; Disorders of molybdenum cofactor metabolism\nReview for gene: MOCS1 was set to GREEN\ngene: MOCS1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). Molybdenum cofactor deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of non-protein vitamin cofactor metabolism. \nSources: NHS GMS","entity_name":"MOCS1","entity_type":"gene"},{"created":"2021-02-07T12:19:05.550607+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.246","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MMADHC as ready","entity_name":"MMADHC","entity_type":"gene"},{"created":"2021-02-07T12:19:05.540150+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.246","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmadhc has been classified as Green List (High Evidence).","entity_name":"MMADHC","entity_type":"gene"},{"created":"2021-02-07T12:19:01.641733+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.246","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MMADHC as Green List (high evidence)","entity_name":"MMADHC","entity_type":"gene"},{"created":"2021-02-07T12:19:01.623401+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.246","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmadhc has been classified as Green List (High Evidence).","entity_name":"MMADHC","entity_type":"gene"},{"created":"2021-02-07T12:18:50.061174+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.245","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MMADHC was added\ngene: MMADHC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMADHC were set to 27604308; 18385497\nPhenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: MMADHC was set to GREEN\ngene: MMADHC was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). Methylmalonic acidemia with homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism. \nSources: NHS GMS","entity_name":"MMADHC","entity_type":"gene"},{"created":"2021-02-07T12:14:29.742833+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.244","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MMACHC as ready","entity_name":"MMACHC","entity_type":"gene"},{"created":"2021-02-07T12:14:29.734804+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.244","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2021-02-07T12:14:26.158845+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.244","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MMACHC as Green List (high evidence)","entity_name":"MMACHC","entity_type":"gene"},{"created":"2021-02-07T12:14:26.147670+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.244","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2021-02-07T12:14:15.359970+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.243","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MMACHC was added\ngene: MMACHC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMACHC were set to 27604308; 16311595\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: MMACHC was set to GREEN\ngene: MMACHC was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). Methylmalonic acidemia with homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism. \nSources: NHS GMS","entity_name":"MMACHC","entity_type":"gene"},{"created":"2021-02-07T11:12:40.220986+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPS28 as ready","entity_name":"RPS28","entity_type":"gene"},{"created":"2021-02-07T11:12:40.212866+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps28 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS28","entity_type":"gene"},{"created":"2021-02-07T11:12:38.057127+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS28 were changed from DBA15; DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; Cleft palate to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Cleft palate","entity_name":"RPS28","entity_type":"gene"},{"created":"2021-02-07T11:12:23.283443+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS28 were set to ","entity_name":"RPS28","entity_type":"gene"},{"created":"2021-02-07T11:11:26.489210+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTS1 as ready","entity_name":"INTS1","entity_type":"gene"},{"created":"2021-02-07T11:11:26.479189+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints1 has been classified as Red List (Low Evidence).","entity_name":"INTS1","entity_type":"gene"},{"created":"2021-02-07T11:11:26.394974+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTS1 as ready","entity_name":"INTS1","entity_type":"gene"},{"created":"2021-02-07T11:11:26.376314+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints1 has been classified as Red List (Low Evidence).","entity_name":"INTS1","entity_type":"gene"},{"created":"2021-02-07T11:11:23.155382+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INTS1 were changed from Cleft palate to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Cleft palate","entity_name":"INTS1","entity_type":"gene"},{"created":"2021-02-07T11:11:14.590813+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INTS1 were set to ","entity_name":"INTS1","entity_type":"gene"},{"created":"2021-02-07T11:11:06.540191+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS1","entity_type":"gene"},{"created":"2021-02-07T11:10:29.495881+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SELENOI as ready","entity_name":"SELENOI","entity_type":"gene"},{"created":"2021-02-07T11:10:29.485263+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenoi has been classified as Red List (Low Evidence).","entity_name":"SELENOI","entity_type":"gene"},{"created":"2021-02-07T11:10:27.426872+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SELENOI were changed from Cleft palate to Cleft palate; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals","entity_name":"SELENOI","entity_type":"gene"},{"created":"2021-02-07T11:10:13.340175+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SELENOI were set to ","entity_name":"SELENOI","entity_type":"gene"},{"created":"2021-02-07T11:10:05.543376+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SELENOI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SELENOI","entity_type":"gene"},{"created":"2021-02-07T11:09:37.692178+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX2 as ready","entity_name":"TBX2","entity_type":"gene"},{"created":"2021-02-07T11:09:37.681418+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx2 has been classified as Red List (Low Evidence).","entity_name":"TBX2","entity_type":"gene"},{"created":"2021-02-07T11:09:10.201030+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSR2 as ready","entity_name":"TSR2","entity_type":"gene"},{"created":"2021-02-07T11:09:10.191035+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsr2 has been classified as Red List (Low Evidence).","entity_name":"TSR2","entity_type":"gene"},{"created":"2021-02-07T11:07:57.035859+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSR2 were changed from Cleft palate to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Cleft palate","entity_name":"TSR2","entity_type":"gene"},{"created":"2021-02-07T11:07:46.601384+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSR2 were set to ","entity_name":"TSR2","entity_type":"gene"},{"created":"2021-02-07T11:07:36.024876+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TSR2","entity_type":"gene"},{"created":"2021-02-07T10:27:02.285019+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM1 as ready","entity_name":"PGM1","entity_type":"gene"},{"created":"2021-02-07T10:27:02.274334+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm1 has been classified as Green List (High Evidence).","entity_name":"PGM1","entity_type":"gene"},{"created":"2021-02-07T10:26:59.944187+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGM1 were changed from Cleft palate to Congenital disorder of glycosylation, type It\t614921; Cleft palate","entity_name":"PGM1","entity_type":"gene"},{"created":"2021-02-07T10:26:35.901243+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGM1 were set to 31563034; 26303607; 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750","entity_name":"PGM1","entity_type":"gene"},{"created":"2021-02-07T10:01:11.401033+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750","entity_name":"PGM1","entity_type":"gene"},{"created":"2021-02-07T10:00:53.328246+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGM1 were set to ","entity_name":"PGM1","entity_type":"gene"},{"created":"2021-02-07T10:00:29.839995+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM1","entity_type":"gene"},{"created":"2021-02-07T09:59:27.327348+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTNND1 as ready","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-02-07T09:59:27.317666+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnd1 has been classified as Green List (High Evidence).","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-02-07T09:59:25.011735+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTNND1 were changed from BLEPHAROCHEILODONTIC; Cleft palate to Blepharocheilodontic syndrome 2, MIM# 617681","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-02-07T09:59:14.763782+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTNND1 were set to 28301459","entity_name":"CTNND1","entity_type":"gene"},{"created":"2021-02-07T09:58:35.958676+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGAP29 as ready","entity_name":"ARHGAP29","entity_type":"gene"},{"created":"2021-02-07T09:58:35.950809+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgap29 has been classified as Green List (High Evidence).","entity_name":"ARHGAP29","entity_type":"gene"},{"created":"2021-02-06T21:42:38.440816+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Clefting_GEL to Clefting disorders\nPanel status changed from internal to public\nPanel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-02-06T21:41:37.261002+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBRSL1 as ready","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-02-06T21:41:37.250842+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-02-06T21:41:32.777432+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBRSL1 as Amber List (moderate evidence)","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-02-06T21:41:32.770335+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-02-06T21:41:24.226358+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBRSL1 was added\ngene: FBRSL1 was added to Clefting_GEL. Sources: Expert list\nMode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBRSL1 were set to 32424618\nPhenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome; Cleft palate\nReview for gene: FBRSL1 was set to AMBER\nAdded comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype.\r\n2/3 had heart defects, cleft palate and hearing impairment.\r\nVariant pathogenicity supported by Xenopus oocyte functional studies \nSources: Expert list","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-02-06T21:40:05.749065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6247","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ESRP2 as ready","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:40:05.738558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esrp2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:39:57.398625+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6247","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESRP2 were changed from  to Cleft lip","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:39:38.868981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6246","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ESRP2 were set to ","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:39:20.114681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6245","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ESRP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:39:02.928125+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6244","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ESRP2 as Amber List (moderate evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:39:02.916389+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esrp2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:38:44.310156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6243","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESRP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:37:33.473702+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ESRP2 as ready","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:37:33.461943+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esrp2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:37:24.879568+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESRP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ESRP2","entity_type":"gene"},{"created":"2021-02-06T21:34:35.543545+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EDN1 as ready","entity_name":"EDN1","entity_type":"gene"},{"created":"2021-02-06T21:34:35.532732+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: edn1 has been classified as Amber List (Moderate Evidence).","entity_name":"EDN1","entity_type":"gene"},{"created":"2021-02-06T21:34:31.482503+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EDN1 were changed from Cleft palate to Auriculocondylar syndrome 3, MIM# 615706; Cleft palate","entity_name":"EDN1","entity_type":"gene"},{"created":"2021-02-06T21:34:17.745950+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EDN1 were set to ","entity_name":"EDN1","entity_type":"gene"},{"created":"2021-02-06T21:34:05.468100+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EDN1","entity_type":"gene"},{"created":"2021-02-06T21:33:58.468660+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EDN1 as Amber List (moderate evidence)","entity_name":"EDN1","entity_type":"gene"},{"created":"2021-02-06T21:33:58.461355+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: edn1 has been classified as Amber List (Moderate Evidence).","entity_name":"EDN1","entity_type":"gene"},{"created":"2021-02-06T21:33:46.279321+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EDN1: Changed rating: AMBER","entity_name":"EDN1","entity_type":"gene"},{"created":"2021-02-06T21:33:39.481124+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315542, 23913798; Phenotypes: Auriculocondylar syndrome 3, MIM# 615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EDN1","entity_type":"gene"},{"created":"2021-02-06T17:39:47.353851+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL9A3 as ready","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-02-06T17:39:47.344363+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col9a3 has been classified as Amber List (Moderate Evidence).","entity_name":"COL9A3","entity_type":"gene"}]}