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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1625",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1623",
"results": [
{
"created": "2020-09-01T13:03:13.817987+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm1a has been classified as Green List (High Evidence).",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:03:10.141455+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM1A were changed from to Cleft palate, psychomotor retardation, and distinctive facial features 616728",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:02:51.417749+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM1A were set to ",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:02:22.789585+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:01:54.783355+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features 616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:00:57.180080+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features 616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:58:58.811875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM1A as ready",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:58:58.801815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm1a has been classified as Green List (High Evidence).",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:58:48.294785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM1A were changed from to Cleft palate, psychomotor retardation, and distinctive facial features 616728; Multiple myeloma",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:58:36.532000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:58:18.258185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM1A were set to ",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:54:03.282206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4063",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31903676, 30728324; Phenotypes: Osteochondrodysplasia, 184260, Achondrogenesis, type IA, 200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:53:25.952980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL11A1 as ready",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:53:25.943630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col11a1 has been classified as Green List (High Evidence).",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:53:20.247300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A1 were changed from to Fibrochondrogenesis 1 (MIM#228520); Marshall syndrome (MIM#154780); Stickler syndrome, type II (MIM#604841)",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:52:59.174360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL11A1 were set to ",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:52:31.200609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4061",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19487666; Phenotypes: Aplastic anemia 609135, Hemophagocytic lymphohistiocytosis, familial, 2 603553, Lymphoma, non-Hodgkin 605027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:51:44.660532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: COL11A1 was changed from to Other",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:51:29.810501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL11A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:49:59.180136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10190325; Phenotypes: Holocarboxylase synthetase deficiency, 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:48:19.884850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26913920, 32381389; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T11:23:59.931207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21031595; Phenotypes: Molybdenum cofactor deficiency A 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T11:22:11.660169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29559475, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features 616728, Multiple myeloma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T10:48:51.400120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 25073711, 30245514, 32427345, 27081569, 21035103; Phenotypes: Fibrochondrogenesis 1 (MIM#228520), Marshall syndrome (MIM#154780), Stickler syndrome, type II (MIM#604841), {Lumbar disc herniation, susceptibility to}, (MIM#603932), ?Deafness, autosomal dominant 37, (MIM#618533); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T09:26:39.548744+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAS2L2 as Amber List (moderate evidence)",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-09-01T09:26:39.538771+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas2l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:39:29.640511+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: GON7.",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:39:14.271055+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: GON7.",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:56.690101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: GON7.",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:37.069595+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YRDC as ready",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:37.060418+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:34.234089+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YRDC as Green List (high evidence)",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:34.226186+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:32.071626+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YRDC as ready",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:32.060468+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:24.372017+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YRDC as Green List (high evidence)",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:24.363073+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:16.092015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YRDC as ready",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:16.082378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:37:55.979755+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YRDC was added\ngene: YRDC was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YRDC were set to 31481669\nPhenotypes for gene: YRDC were set to Galloway-Mowat syndrome\nReview for gene: YRDC was set to GREEN\nAdded comment: Three individuals from two unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data. \nSources: Literature",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:37:52.081647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YRDC as Green List (high evidence)",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:37:52.072676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:37:48.950389+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YRDC was added\ngene: YRDC was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YRDC were set to 31481669\nPhenotypes for gene: YRDC were set to Galloway-Mowat syndrome\nReview for gene: YRDC was set to GREEN\nAdded comment: Three individuals from two unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data. \nSources: Literature",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:36:52.686410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YRDC was added\ngene: YRDC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YRDC were set to 31481669\nPhenotypes for gene: YRDC were set to Galloway-Mowat syndrome\nReview for gene: YRDC was set to GREEN\nAdded comment: Three individuals from two unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data. \nSources: Literature",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:06:40.539126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GON7 as ready",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:06:40.527328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gon7 has been classified as Green List (High Evidence).",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:06:33.955979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GON7 as Green List (high evidence)",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:06:33.947949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gon7 has been classified as Green List (High Evidence).",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:06:19.124247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GON7 was added\ngene: GON7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GON7 were set to 31481669\nPhenotypes for gene: GON7 were set to Galloway-Mowat syndrome\nReview for gene: GON7 was set to GREEN\nAdded comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect. Clinical features included proteinuria, microcephaly, brain malformations and developmental delay. Supportive functional data. \nSources: Literature",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:04:55.145703+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GON7 as ready",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:04:55.135589+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gon7 has been classified as Green List (High Evidence).",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:04:50.673731+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GON7 as Green List (high evidence)",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:04:50.663895+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gon7 has been classified as Green List (High Evidence).",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:04:23.797154+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GON7 was added\ngene: GON7 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GON7 were set to 31481669\nPhenotypes for gene: GON7 were set to Galloway-Mowat syndrome\nReview for gene: GON7 was set to GREEN\nAdded comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect. Clinical features included proteinuria, microcephaly, brain malformations and developmental delay. Supportive functional data. \nSources: Literature",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:03:59.351670+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GON7 as ready",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:03:59.331326+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gon7 has been classified as Green List (High Evidence).",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:03:37.960838+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GON7 as Green List (high evidence)",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:03:37.950844+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gon7 has been classified as Green List (High Evidence).",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:02:12.232616+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GON7 was added\ngene: GON7 was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GON7 were set to 31481669\nPhenotypes for gene: GON7 were set to Galloway-Mowat syndrome\nReview for gene: GON7 was set to GREEN\nAdded comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect. Clinical features included proteinuria, microcephaly, brain malformations and developmental delay. Supportive functional data. \nSources: Literature",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:56:52.147340+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAGE3 as ready",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:56:52.137075+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lage3 has been classified as Green List (High Evidence).",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:56:50.060383+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAGE3 were changed from to Galloway-Mowat syndrome 2, X-linked, MIM# 301006",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:56:23.410927+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAGE3 were set to ",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:55:58.061728+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAGE3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:55:33.945954+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828; Phenotypes: Galloway-Mowat syndrome 2, X-linked, MIM# 301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:54:49.701746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAGE3 as ready",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:54:49.691077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lage3 has been classified as Green List (High Evidence).",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:54:43.066454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAGE3 were changed from to Galloway-Mowat syndrome 2, X-linked, MIM# 301006",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:54:24.610100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAGE3 were set to ",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:54:08.349579+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAGE3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:53:48.091972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828; Phenotypes: Galloway-Mowat syndrome 2, X-linked, MIM# 301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:52:46.691437+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAGE3 as ready",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:52:46.681099+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lage3 has been classified as Green List (High Evidence).",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:52:43.523778+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAGE3 were changed from to Galloway-Mowat syndrome 2, X-linked, MIM# 301006",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:52:26.266780+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAGE3 were set to ",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:52:01.330214+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAGE3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:51:29.910673+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828; Phenotypes: Galloway-Mowat syndrome 2, X-linked, MIM# 301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:48:15.682916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LINGO1 as ready",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:48:15.664317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:48:09.522148+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LINGO1 were changed from to Mental retardation, autosomal recessive 64, MIM# 618103",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:47:52.513523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LINGO1 were set to ",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:47:36.473293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LINGO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:47:21.666748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LINGO1 as Amber List (moderate evidence)",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:47:21.653946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:46:53.100671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LINGO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31668702; Phenotypes: Mental retardation, autosomal recessive 64, MIM# 618103; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:45:47.333432+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LINGO1 as ready",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:45:47.323596+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:45:44.785149+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LINGO1 were changed from to Mental retardation, autosomal recessive 64, MIM# 618103",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:45:19.591975+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LINGO1 were set to ",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:44:56.213126+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LINGO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:44:34.768797+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LINGO1 as Amber List (moderate evidence)",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:44:34.757763+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:44:03.240522+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LINGO1: Changed rating: AMBER",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-09-01T06:43:56.893866+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LINGO1: Rating: ; Mode of pathogenicity: None; Publications: 31668702; Phenotypes: Mental retardation, autosomal recessive 64, MIM# 618103; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2020-08-31T23:28:58.170662+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.123",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: TRIM8 as ready",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-08-31T23:28:58.160359+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.123",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: trim8 has been classified as Green List (High Evidence).",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-08-31T23:28:52.681659+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.123",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: TRIM8 as Green List (high evidence)",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-08-31T23:28:52.673193+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.123",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: trim8 has been classified as Green List (High Evidence).",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-08-31T23:28:04.825352+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.122",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: TRIM8 was added\ngene: TRIM8 was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM8 were set to 30244534; 32193649\nPhenotypes for gene: TRIM8 were set to intellectual disability; epileptic encephalopathy; nephrotic syndrome; proteinuria\nPenetrance for gene: TRIM8 were set to Complete\nReview for gene: TRIM8 was set to GREEN\nAdded comment: ~50% affected individuals have proteinuria, one confirmed with FSGS \nSources: Literature",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-08-31T22:10:00.887535+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSGEP as ready",
"entity_name": "OSGEP",
"entity_type": "gene"
}
]
}