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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1268",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1266",
"results": [
{
"created": "2021-07-18T16:57:27.269835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C8orf37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:56:09.591294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2CD3 as ready",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:56:09.581525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2cd3 has been classified as Green List (High Evidence).",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:56:02.134678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:55:45.558355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C2CD3 were set to ",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:55:26.296522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:47:54.127590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRM3 as ready",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:47:54.117181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrm3 has been classified as Green List (High Evidence).",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:47:45.814126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRM3 were changed from to Prune belly syndrome, MIM# 100100",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:47:27.475725+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRM3 were set to ",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:47:08.578171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:46:49.857267+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22077972, 31441039; Phenotypes: Prune belly syndrome, MIM# 100100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:46:42.568855+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRM3 as ready",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:46:42.552673+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrm3 has been classified as Green List (High Evidence).",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:46:36.941231+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRM3 were changed from Posterior urethral valves & prune belly syndrome to Prune belly syndrome, MIM# 100100; Posterior urethral valves & prune belly syndrome",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:46:23.462382+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRM3 were set to ",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:45:20.567984+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHRM3: Changed rating: GREEN",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:45:15.206385+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRM3: Rating: ; Mode of pathogenicity: None; Publications: 22077972, 31441039; Phenotypes: Prune belly syndrome, MIM# 100100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRM3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:42:51.582355+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTA2 as ready",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:42:51.566732+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acta2 has been classified as Green List (High Evidence).",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:42:46.868404+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTA2 were changed from Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis to Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:42:37.698291+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTA2 were set to ",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:42:28.561887+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:42:19.015327+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20734336, 29300374; Phenotypes: Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:36:10.497526+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-07-18T16:33:36.738539+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT74 as ready",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:33:36.731351+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: No renal involvement in the individuals reported with the Joubert phenotype.",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:33:36.707996+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:31:03.540306+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C2CD3: Changed rating: AMBER",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:29:48.541251+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Primarily a skeletal ciliopathy, short ribs and narrow chest are a feature.; to: Primarily a skeletal ciliopathy, short ribs and narrow chest are a feature. Renal abnormalities not prominent.",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:29:37.105109+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EVC: Changed rating: RED",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:26:09.076277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGAP42 as ready",
"entity_name": "ARHGAP42",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:26:09.065557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap42 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGAP42",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:26:01.506480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGAP42 was added\ngene: ARHGAP42 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARHGAP42 were set to 34232960\nPhenotypes for gene: ARHGAP42 were set to Interstitial lung disease; systemic hypertension; immunological abnormalities\nReview for gene: ARHGAP42 was set to RED\nAdded comment: Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings. \nSources: Literature",
"entity_name": "ARHGAP42",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:24:46.500891+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGAP42 as ready",
"entity_name": "ARHGAP42",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:24:46.490164+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap42 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGAP42",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:24:44.120561+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP42 were changed from to Interstitial lung disease; systemic hypertension; immunological abnormalities",
"entity_name": "ARHGAP42",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:23:46.790812+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGAP42 was added\ngene: ARHGAP42 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARHGAP42 were set to 34232960\nReview for gene: ARHGAP42 was set to RED\nAdded comment: Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings. \nSources: Literature",
"entity_name": "ARHGAP42",
"entity_type": "gene"
},
{
"created": "2021-07-18T15:01:13.348391+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCLT1 were changed from Orofaciodigital syndrome type IX; Senior-Loken syndrome to Senior-Loken syndrome; Bardet-Biedl syndrome",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-07-18T15:00:45.256610+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCLT1 as Green List (high evidence)",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-07-18T15:00:45.246489+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sclt1 has been classified as Green List (High Evidence).",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-07-18T15:00:17.195853+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype. \nSources: Expert list; to: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype. Two individuals with BBS and one with Senior-Loken, with renal involvement.\r\nSources: Expert list",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:59:58.872258+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCLT1: Changed phenotypes: Orofaciodigital syndrome type IX, Senior-Loken syndrome, Bardet-Biedl syndrome",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:58:50.289701+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 5 families reported with a skeletal ciliopathy, supportive mouse model and other functional data.; to: At least 5 families reported with a skeletal ciliopathy, supportive mouse model and other functional data; however, no renal involvement.",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:58:39.367326+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR34: Changed rating: RED",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:58:04.419075+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR60 as ready",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:58:04.407375+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr60 has been classified as Green List (High Evidence).",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:58:01.495091+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:54:33.204856+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR60 were set to ",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:54:06.472854+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:53:34.377863+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families reported, three with skeletal ciliopathy and one with RP and polydactyly only.; to: Four unrelated families reported, including renal involvement, although features are predominantly skeletal.",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:52:45.196936+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR60: Changed phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:52:22.135591+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR35 as ready",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:52:22.123264+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr35 has been classified as Green List (High Evidence).",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:52:19.747193+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR35 were changed from to Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569; Cranioectodermal dysplasia 2, MIM# 613610",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:51:49.366749+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR35 were set to ",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:51:16.441568+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:50:51.463626+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Bi-allelic variants in this gene also cause cranioectodermal dysplasia.; to: Well established gene-disease associations, renal involvement reported in both.",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:50:34.937433+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR35: Changed phenotypes: Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569, Cranioectodermal dysplasia 2, MIM# 613610",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:49:36.277162+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR19 were changed from Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378 to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:48:30.089499+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR19 as ready",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:48:30.080350+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr19 has been classified as Green List (High Evidence).",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:48:27.781968+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR19 were changed from to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:48:00.947182+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR19 were set to ",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:47:35.828877+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:47:09.282879+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene are associated with a range of ciliopathies. Two families reported with a predominantly skeletal phenotype.; to: Variants in this gene are associated with a range of ciliopathies, including nephronophthisis and Senior-Loken syndrome.",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:46:51.144860+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR19: Changed rating: GREEN",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:46:44.218228+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR19: Changed publications: 22019273, 23559409, 23683095; Changed phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:44:40.008655+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC8 as ready",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:44:39.996185+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc8 has been classified as Green List (High Evidence).",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:44:36.829975+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:44:08.316742+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC8 were set to ",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2021-07-18T14:43:38.255799+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:18:31.554378+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC21B as ready",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:18:31.543208+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc21b has been classified as Green List (High Evidence).",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:18:22.026989+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:17:57.024737+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC21B were set to ",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:17:30.443460+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:17:04.565701+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:15:09.375827+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM67 as ready",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:15:09.352866+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem67 has been classified as Green List (High Evidence).",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:15:06.366862+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM67 were changed from to Nephronophthisis 11, MIM# 613550; Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:14:47.660728+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM67 were set to ",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:14:14.873017+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:13:44.128067+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Multiple families with each.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including Nerphronophtisis, JBTS and Meckel syndrome. Multiple families with each.",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:13:32.070923+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM67: Changed phenotypes: Nephronophthisis 11, MIM# 613550, Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:12:07.920711+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM231 as ready",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:12:07.910562+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem231 has been classified as Green List (High Evidence).",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:12:05.344210+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:11:37.004209+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM231 were set to ",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:11:12.257567+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-07-18T13:10:46.210833+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 3 unrelated families reported with each phenotype, functional data.; to: More than 3 unrelated families reported with each phenotype, functional data. Renal involvement common in Meckel.",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-07-17T18:31:42.517799+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM216 as ready",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-07-17T18:31:42.507126+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem216 has been classified as Green List (High Evidence).",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-07-17T18:31:40.375640+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-07-17T18:31:12.582206+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM216 were set to ",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-07-17T18:28:06.729933+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-07-17T18:27:40.396367+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: p.Arg73Leu is a founder Jewish variant.\r\n\r\nMultiple families reported with JBTS and with Meckel syndrome.; to: p.Arg73Leu is a founder Jewish variant.\r\n\r\nMultiple families reported with JBTS and with Meckel syndrome. Renal involvement common in Meckel.",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-07-17T18:26:50.973113+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM138 as ready",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-07-17T18:26:50.963185+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem138 has been classified as Green List (High Evidence).",
"entity_name": "TMEM138",
"entity_type": "gene"
}
]
}