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{
"count": 220806,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1979",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1977",
"results": [
{
"created": "2020-01-17T12:46:55.675149+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.64",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: fam149b1 has been classified as Green List (High Evidence).",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:46:33.049180+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLD1 was added\ngene: PLD1 was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLD1 were set to 27799408\nPhenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM#\t212093\nReview for gene: PLD1 was set to AMBER\nAdded comment: Four individuals from two families reported. \nSources: Expert list",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:45:29.836879+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.63",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: FAM149B1 was added\ngene: FAM149B1 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM149B1 were set to PMID: 30905400\nPhenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy\nReview for gene: FAM149B1 was set to GREEN\ngene: FAM149B1 was marked as current diagnostic\nAdded comment: Four unrelated families reported \nSources: Literature",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:43:31.802254+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NONO as ready",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:43:31.790798+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nono has been classified as Green List (High Evidence).",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:43:27.932166+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: FAM149B1 as ready",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:43:27.920595+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: fam149b1 has been classified as Green List (High Evidence).",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:43:27.076939+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NONO as Green List (high evidence)",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:43:27.065334+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nono has been classified as Green List (High Evidence).",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:43:13.694605+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: FAM149B1 as Green List (high evidence)",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:43:13.680715+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: fam149b1 has been classified as Green List (High Evidence).",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:42:34.285232+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NONO was added\ngene: NONO was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NONO were set to 26571461; 27329731; 27550220\nPhenotypes for gene: NONO were set to Mental retardation, X-linked, syndromic 34, MIM#\t300967\nReview for gene: NONO was set to GREEN\nAdded comment: Structural heart defects and cardiomyopathy are features of this syndromic disorder. \nSources: Expert list",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:42:14.819182+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.11",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: FAM149B1 was added\ngene: FAM149B1 was added to Joubert syndrome and other cerebellar malformations. Sources: Literature\nMode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM149B1 were set to PMID: 30905400\nPhenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy\nReview for gene: FAM149B1 was set to GREEN\ngene: FAM149B1 was marked as current diagnostic\nAdded comment: Four unrelated families reported \nSources: Literature",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:38:45.550538+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYOCD as ready",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:38:45.538321+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myocd has been classified as Green List (High Evidence).",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:38:41.600033+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYOCD as Green List (high evidence)",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:38:41.588459+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myocd has been classified as Green List (High Evidence).",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:38:04.788709+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYOCD was added\ngene: MYOCD was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: MYOCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYOCD were set to 31513549\nPhenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy\nReview for gene: MYOCD was set to GREEN\nAdded comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease). \nSources: Literature",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:25:08.778492+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.821",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CARS as ready",
"entity_name": "CARS",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:25:08.766331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.821",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cars has been classified as Green List (High Evidence).",
"entity_name": "CARS",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:24:58.200052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.821",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CARS as Green List (high evidence)",
"entity_name": "CARS",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:24:58.188759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.821",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cars has been classified as Green List (High Evidence).",
"entity_name": "CARS",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:24:35.822186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.820",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: CARS was added\ngene: CARS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARS were set to PMID: 30824121\nPhenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails\nAdded comment: Three reported unrelated families \nSources: Literature",
"entity_name": "CARS",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:23:38.903332+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1608",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CARS as ready",
"entity_name": "CARS",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:23:38.891497+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1608",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cars has been classified as Green List (High Evidence).",
"entity_name": "CARS",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:18:56.319001+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1608",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CARS as Green List (high evidence)",
"entity_name": "CARS",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:18:56.307404+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1608",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cars has been classified as Green List (High Evidence).",
"entity_name": "CARS",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:18:55.640724+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: WDPCP as ready",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:18:55.629285+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Red List (Low Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:18:46.906410+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDPCP was added\ngene: WDPCP was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085\nReview for gene: WDPCP was set to RED\nAdded comment: Ataxia not a reported phenotypic feature associated with this gene.` \nSources: Expert list",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:18:02.238462+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1607",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: CARS was added\ngene: CARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARS were set to PMID: 30824121\nPhenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails\nReview for gene: CARS was set to GREEN\ngene: CARS was marked as current diagnostic\nAdded comment: Three reported unrelated families \nSources: Literature",
"entity_name": "CARS",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:14:51.987405+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VRK1 was added\ngene: VRK1 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596\nReview for gene: VRK1 was set to RED\nAdded comment: Ataxia can be a feature of the phenotype. Biallelic variants cause pontocerebellar hypoplasia and death before age 12, thus not a relevant gene for testing in an adult hospital. \nSources: Expert list",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:10:13.757837+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTI1 as ready",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:10:13.745775+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tti1 has been classified as Red List (Low Evidence).",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:10:07.576006+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTI1 was added\ngene: TTI1 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TTI1 was set to Unknown\nReview for gene: TTI1 was set to RED\nAdded comment: No reported association with ataxia. \nSources: Expert list",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:55:21.830112+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTC8 was added\ngene: TTC8 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985\nReview for gene: TTC8 was set to RED\nAdded comment: Ataxia is not a reported feature of this subtype of BBS \nSources: Expert list",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:54:42.091494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK8IP3 as ready",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:54:42.079990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:54:31.878435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK8IP3 as Green List (high evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:54:31.867165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:54:12.883848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK8IP3 were set to 30612693\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431\nReview for gene: MAPK8IP3 was set to GREEN\nAdded comment: >3 reported individuals and functional evidence in Caenorhabditis elegans \nSources: Literature",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:51:30.925496+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK8IP3 as ready",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:51:30.914043+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:51:25.832217+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK8IP3 as Green List (high evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:51:25.820538+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:41:55.160915+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T11:32:36.117560+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSEN34 was added\ngene: TSEN34 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN34 were set to ?Pontocerebellar hypoplasia type 2C, 612390\nReview for gene: TSEN34 was set to RED\nAdded comment: No publications associated with ataxia, and ataxia is not a prominent feature of the condition. \nSources: Expert list",
"entity_name": "TSEN34",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:29:10.891421+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSEN2 was added\ngene: TSEN2 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389\nReview for gene: TSEN2 was set to RED\nAdded comment: Ataxia is not a prominent feature of this phenotype. \nSources: Expert list",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:26:38.662673+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988\nReview for gene: TRIM32 was set to RED\nAdded comment: Ataxia is not a reported feature associated with this gene. \nSources: Expert list",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:22:09.757286+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SVBP as Green List (high evidence)",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:22:09.745291+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: svbp has been classified as Green List (High Evidence).",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:21:58.892604+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SVBP was added\ngene: SVBP was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569\nReview for gene: SVBP was set to GREEN\nAdded comment: Ataxia is a prominent feature of the phenotype for this condition. \nSources: Expert list",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:16:38.212137+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SNAP25 as ready",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:16:38.200480+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: snap25 has been classified as Green List (High Evidence).",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:16:35.237513+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SNAP25 as Green List (high evidence)",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:16:35.226120+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: snap25 has been classified as Green List (High Evidence).",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:16:18.338542+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SNAP25 was added\ngene: SNAP25 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SNAP25 were set to 29491473; 25381298; 17283335\nPhenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330; cerebellar ataxia and seizures\nReview for gene: SNAP25 was set to GREEN\nAdded comment: Phenotype in 3 reported cases and mouse model includes ataxia as a feature. \nSources: Expert list",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2020-01-17T11:00:25.737692+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1605",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAPK8IP3 were set to 30612693\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431\nReview for gene: MAPK8IP3 was set to GREEN\ngene: MAPK8IP3 was marked as current diagnostic\nAdded comment: >3 reported individuals and functional evidence in Caenorhabditis elegans \nSources: Literature",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:39:51.776706+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1604",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: NCAPG2 as ready",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:39:51.765592+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1604",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ncapg2 has been classified as Green List (High Evidence).",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:39:45.985550+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1604",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NCAPG2 as Green List (high evidence)",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:39:45.973511+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1604",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ncapg2 has been classified as Green List (High Evidence).",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:39:11.405057+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1603",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NCAPG2 as Green List (high evidence)",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:39:11.393883+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1603",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ncapg2 has been classified as Green List (High Evidence).",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:38:13.142590+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1602",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: NCAPG2 was added\ngene: NCAPG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCAPG2 were set to 30609410\nPhenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460\nReview for gene: NCAPG2 was set to GREEN\nAdded comment: Two families and functional evidence (zebrafish model). \nSources: Literature",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:36:39.916715+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SAR1B was added\ngene: SAR1B was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700\nReview for gene: SAR1B was set to RED\nAdded comment: Ataxia is not a reported prominent feature of the condition. Neurological symptoms are secondary to malabsorption. \nSources: Expert list",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:35:19.192043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCAPG2 as ready",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:35:19.178873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncapg2 has been classified as Green List (High Evidence).",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:35:10.370566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCAPG2 as Green List (high evidence)",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:35:10.357041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncapg2 has been classified as Green List (High Evidence).",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:34:53.057223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCAPG2 was added\ngene: NCAPG2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCAPG2 were set to 30609410\nPhenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM#\t618460\nReview for gene: NCAPG2 was set to GREEN\nAdded comment: Two families and functional evidence (zebrafish model). \nSources: Literature",
"entity_name": "NCAPG2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:31:15.350229+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS9 as ready",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:31:15.337562+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts9 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:31:06.579744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS9 as Green List (high evidence)",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:31:06.567770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts9 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:30:49.661553+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS9 was added\ngene: ADAMTS9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS9 were set to 30609407\nPhenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy\nReview for gene: ADAMTS9 was set to GREEN\nAdded comment: Two families reported with functional evidence \nSources: Literature",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:25:45.246891+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS9 as ready",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:25:45.234631+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts9 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:25:26.996986+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.98",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ADAMTS9 as Green List (high evidence)",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:25:26.983216+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.98",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: adamts9 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:22:11.056926+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RARS2 was added\ngene: RARS2 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RARS2 were set to 31429931\nPhenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; early onset cerebellar ataxia\nReview for gene: RARS2 was set to RED\nAdded comment: Ataxia is not a prominent feature of PCH. A homozygous putative pathogenic variant has been identified in one family with early onset cerebellar ataxia. \nSources: Expert list",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:10:25.613969+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.95",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: ADAMTS9 was added\ngene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature\nMode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS9 were set to PMID:30609407\nPhenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy\nPenetrance for gene: ADAMTS9 were set to unknown\nReview for gene: ADAMTS9 was set to GREEN\ngene: ADAMTS9 was marked as current diagnostic\nAdded comment: Two families reported with functional evidence \nSources: Literature",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:09:33.301920+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.95",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: ADAMTS9 was added\ngene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature\nMode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS9 were set to PMID:30609407\nPhenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy\nPenetrance for gene: ADAMTS9 were set to unknown\nReview for gene: ADAMTS9 was set to GREEN\ngene: ADAMTS9 was marked as current diagnostic\nAdded comment: Two families reported with functional evidence \nSources: Literature",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:08:09.163003+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KCNQ2 as Amber List (moderate evidence)",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:08:09.155522+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kcnq2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:07:57.318915+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22169383, 20962009, 10575255; Phenotypes: Early infantile epileptic encephalopathy 7, MIM#613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-01-17T10:02:18.856159+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:CAPN1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T09:51:51.710410+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PNKD as Green List (high evidence)",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-01-17T09:51:51.703187+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnkd has been classified as Green List (High Evidence).",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-01-17T09:51:39.981824+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNKD was added\ngene: PNKD was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PNKD were set to Paroxysmal nonkinesigenic dyskinesia 1, 118800\nReview for gene: PNKD was set to GREEN\nAdded comment: Condition has many overlapping features with episodic ataxia. \nSources: Expert list",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-01-17T07:43:51.652458+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A3 as ready",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-01-17T07:43:51.645015+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-01-17T07:43:46.145581+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC52A3 as Green List (high evidence)",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-01-17T07:43:46.138828+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-01-17T07:42:50.530358+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC52A3 was added\ngene: SLC52A3 was added to Central Hypoventilation. Sources: Expert list\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM#\t211530\nReview for gene: SLC52A3 was set to GREEN\nAdded comment: Although this condition does not cause central hypoventilation, it can present with hypoventilation due to phrenic nerve palsy, and as it is treatable, it has been included in this panel. \nSources: Expert list",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-01-16T21:49:23.087636+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-16T21:46:31.200416+11:00",
"panel_name": "Haematuria",
"panel_id": 39,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-16T20:56:35.796359+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFAP2A were changed from Branchiooculofacial syndrome, MIM# 113620 to Branchiooculofacial syndrome, MIM# 113620",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-01-16T20:56:20.429638+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFAP2A as ready",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-01-16T20:56:20.404521+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfap2a has been classified as Green List (High Evidence).",
"entity_name": "TFAP2A",
"entity_type": "gene"
}
]
}