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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1418",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}