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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=447",
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"results": [
{
"created": "2024-05-23T15:53:14.641327+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMD9 as ready",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:53:14.619576+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samd9 has been classified as Green List (High Evidence).",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:52:21.142908+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CPS1 was added\ngene: CPS1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPS1 were set to 9862865; 29801986; 27834067; 27150549; 22173106\nPhenotypes for gene: CPS1 were set to carbamoyl phosphate synthetase I deficiency disease MONDO:0009376\nReview for gene: CPS1 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/10/2018 - https://search.clinicalgenome.org/CCID:004568\r\n\r\nWell established gene-disease association. Reported individuals are deficient in CPS which affects their urea cycle. Classified as an inborn error of metabolism of the urea cycle. \nSources: ClinGen",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:50:49.228872+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAMD9 were changed from MIRAGE Syndrome, MIM#617053 to MIRAGE Syndrome, MIM#617053",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:50:14.950928+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAMD9 were changed from to MIRAGE Syndrome, MIM#617053",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:49:28.689356+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAMD9 were set to ",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:48:17.318374+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SAMD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:47:30.473371+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIRAGE Syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:47:09.009636+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5898",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22581619, 31053785, 30568244, 18252212, 21340693, 34926457, 36140739, 37107605; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:45:15.742536+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:45:15.728174+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:43:56.469263+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:43:17.872405+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:42:35.707927+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:42:24.262776+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CBS was added\ngene: CBS was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBS were set to 20301697; 18987302; 29398487\nPhenotypes for gene: CBS were set to classic homocystinuria MONDO:0009352\nReview for gene: CBS was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/04/2019 - https://search.clinicalgenome.org/CCID:004360\r\n\r\nWell established gene-disease association. Multiple reported individuals and mouse models recapitulating the clinical phenotype. Classic homocystinuria is an inborn error of amino acid metabolism. \nSources: ClinGen",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:40:45.617308+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:40:45.600395+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:40:37.401348+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:39:54.284637+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:39:09.256493+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:38:30.198865+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:37:00.030302+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:36:59.998534+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:36:56.255899+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:36:45.487246+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:36:10.535907+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to 16088910; 9823897; 10911993; 15333585; 9809069, 12023982; 11040211; 15175260; 19451691; 17554302; 11779494",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:35:57.256201+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:34:32.767499+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A1 as ready",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:34:32.750785+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:34:28.066622+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A1 were changed from to Congenital disorder of glycosylation, type IIf, MIM# 603585",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:33:47.015792+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35A1 were set to ",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:33:04.162703+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:32:20.221056+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC35A1 as Amber List (moderate evidence)",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:32:20.196525+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:31:08.782142+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC35A1: Changed rating: AMBER",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:31:01.049365+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 3 families reported.; to: At least 3 families reported, neurological presentation in two.",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:29:56.471890+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28856833, 23873973, 11157507; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM# 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:28:49.005594+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: CA5A: Changed publications: 24530203, 26913920, 23589845, 25834911",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:28:36.811486+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRPPRC as ready",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:28:36.796501+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrpprc has been classified as Green List (High Evidence).",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:28:31.452426+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRPPRC were changed from to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:28:19.702195+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CA5A was added\ngene: CA5A was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CA5A were set to 24530203, 26913920, 23589845\nPhenotypes for gene: CA5A were set to hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332\nReview for gene: CA5A was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 10/09/2018 - https://search.clinicalgenome.org/CCID:004309\r\n\r\nReported in >10 probands with biochemical abnormalities (inborn error of metabolism) \nSources: ClinGen",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:27:53.598388+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRPPRC were set to ",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:14:05.457458+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRPPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:13:28.653763+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:13:02.457916+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ASS1 was added\ngene: ASS1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASS1 were set to 19006241\nPhenotypes for gene: ASS1 were set to citrullinemia type I MONDO:0008988\nReview for gene: ASS1 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 27/12/2018 - https://search.clinicalgenome.org/CCID:004190\r\n\r\nWell-established gene-disease association. Reported individuals present with inborn error of argininosuccinate synthetase metabolism. \nSources: ClinGen",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:07:48.316437+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEUROG3 as ready",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:07:48.282730+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neurog3 has been classified as Green List (High Evidence).",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:07:45.317709+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEUROG3 were changed from to congenital malabsorptive diarrhea 4 MONDO:0012479",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:07:17.645912+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARG1 as ready",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:07:17.633600+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:07:14.509648+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:06:49.303273+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARG1 as Green List (high evidence)",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:06:49.286324+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:06:27.405148+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMT as ready",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:06:27.392039+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amt has been classified as Green List (High Evidence).",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:06:19.994477+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMT were set to 27362913, 8005589, 25231368, 26179960, 26371980, 27164344, 6863283, 18941301",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:05:46.660020+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMT as Green List (high evidence)",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:05:46.637773+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amt has been classified as Green List (High Evidence).",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:05:16.864149+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASL as ready",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:05:16.849375+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asl has been classified as Green List (High Evidence).",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:05:12.859823+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASL were set to 2263616, 17326097, 19703900, 12559843, 22081021",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:04:49.519661+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASL as Green List (high evidence)",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:04:49.506716+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asl has been classified as Green List (High Evidence).",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:04:28.139716+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INS as ready",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:04:28.127246+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ins has been classified as Green List (High Evidence).",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:04:25.201636+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INS were changed from Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus to diabetes mellitus, permanent neonatal 4 MONDO:0030089; maturity-onset diabetes of the young type 10 MONDO:0013240",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:04:08.583767+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INS were set to ",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:03:38.725213+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASNS as ready",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:03:38.701366+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asns has been classified as Green List (High Evidence).",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:03:19.500715+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:02:57.959001+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASNS as Green List (high evidence)",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:02:57.937153+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asns has been classified as Green List (High Evidence).",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:02:31.266435+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INSR as ready",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:02:31.246728+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: insr has been classified as Green List (High Evidence).",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:02:27.877074+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INSR were changed from Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190 to insulin-resistance syndrome type A MONDO:0012520; Rabson-Mendenhall syndrome MONDO:0009874; Donohue syndrome MONDO:0009517",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:01:57.797326+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INSR were set to 8288049",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:01:17.627133+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MONDO:0010079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:00:50.461875+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGA as ready",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:00:50.448571+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aga has been classified as Green List (High Evidence).",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:00:45.420015+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGA as Green List (high evidence)",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:00:45.401976+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aga has been classified as Green List (High Evidence).",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:00:17.692626+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA6 as ready",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:00:17.674150+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata6 has been classified as Green List (High Evidence).",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2024-05-23T15:00:14.826911+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS to pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:59:33.450845+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:59:33.438458+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:59:27.342001+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome MONDO:0018866",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:58:51.374288+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREX1 were set to ",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:58:05.706190+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:56:16.097738+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERAC1 as ready",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:56:16.084996+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serac1 has been classified as Green List (High Evidence).",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:56:10.226637+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERAC1 were changed from to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), MIM#614739",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:55:15.127534+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERAC1 were set to ",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:54:49.577851+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERAC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:53:59.065833+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:53:18.419225+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741715, 37711114, 37090937, 28916646, 32684373; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), MIM#614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:42:32.042889+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAPBP were changed from Bare lymphocyte syndrome, type I, MIM# 604571 to Bare lymphocyte syndrome, type I, MIM# 604571; MHC class I deficiency 3, MIM# 620814",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:41:54.222968+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAPBP: Changed phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571, MHC class I deficiency 3, MIM# 620814",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:41:35.277597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAPBP were changed from Bare lymphocyte syndrome, type I, MIM# 604571 to Bare lymphocyte syndrome, type I, MIM# 604571; MHC class I deficiency 3, MIM# 620814",
"entity_name": "TAPBP",
"entity_type": "gene"
}
]
}