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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1370",
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"results": [
{
"created": "2021-03-27T13:57:21.363949+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:57:07.191306+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0586.",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:54:12.273677+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP120 as ready",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:54:12.262197+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep120 has been classified as Green List (High Evidence).",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:54:07.454820+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP120 as Green List (high evidence)",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:54:07.445611+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep120 has been classified as Green List (High Evidence).",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:53:39.518557+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP120 was added\ngene: CEP120 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list\nMode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP120 were set to 27208211; 33486889; 29847808\nPhenotypes for gene: CEP120 were set to Joubert syndrome 31, MIM#\t617761\nReview for gene: CEP120 was set to GREEN\nAdded comment: More than 5 unrelated families with JBTS reported. Note variants in this gene also cause SRTD. Functional data. \nSources: Expert list",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:47:11.643614+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"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": "2021-03-27T13:46:29.785595+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM231 as ready",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:46:29.770767+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem231 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:46:26.842015+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.278",
"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": "2021-03-27T13:45:57.763104+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.277",
"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": "2021-03-27T13:45:31.748779+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM231 as Red List (low evidence)",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:45:31.738974+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem231 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:45:07.186525+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM231: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:44:19.093566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM231 as ready",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:44:19.084472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6924",
"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": "2021-03-27T13:44:12.284501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6924",
"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": "2021-03-27T13:43:53.909020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM231 were set to ",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:43:34.070871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6922",
"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": "2021-03-27T13:43:15.119801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families described with the Joubert phenotype, severely affected, not ambulant.; to: More than 3 unrelated families reported with each phenotype, functional data.",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:42:56.732358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM231: Changed rating: GREEN; Changed publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Changed phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:41:57.746705+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM231 as ready",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:41:57.737114+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.269",
"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": "2021-03-27T13:41:54.807446+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.269",
"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": "2021-03-27T13:41:32.625331+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM231 were set to ",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:41:02.537029+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.267",
"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": "2021-03-27T13:40:32.200240+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:40:07.546069+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM231 as ready",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:40:07.535143+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.162",
"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": "2021-03-27T13:39:53.647740+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.162",
"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": "2021-03-27T13:39:32.062046+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM231 were set to ",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:39:05.982494+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.160",
"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": "2021-03-27T13:38:36.430976+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:35:01.064182+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM216 as ready",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:35:01.054045+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem216 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:34:58.410774+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:34:35.698762+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.274",
"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": "2021-03-27T13:34:15.188713+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM216 as Red List (low evidence)",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:34:15.179906+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem216 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:33:45.031389+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM216: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 2, MIM# 608091, MONDO:0011963, Meckel syndrome 2, MIM# 603194, MONDO:0011296; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:33:15.410955+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM216 as ready",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:33:15.401800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6921",
"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": "2021-03-27T13:32:58.522391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:32:29.810800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM216 were set to ",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:32:13.530725+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6919",
"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": "2021-03-27T13:31:56.678250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ataxia is part of the phenotype.; to: p.Arg73Leu is a founder Jewish variant. Multiple families reported with JBTS and with Meckel syndrome.",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:31:44.766205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM216: Changed phenotypes: Joubert syndrome 2, MIM# 608091, MONDO:0011963, Meckel syndrome 2, MIM# 603194, MONDO:0011296",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:31:14.451262+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: TMEM216.",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:30:52.376071+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM216 as ready",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:30:52.360816+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.266",
"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": "2021-03-27T13:30:46.073895+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:30:28.546560+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM216 were set to ",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:30:11.895586+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.264",
"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": "2021-03-27T13:29:41.816840+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: TMEM216.",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:29:35.360153+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM216 as ready",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:29:35.340836+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.159",
"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": "2021-03-27T13:29:28.802345+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194 to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:29:13.982278+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194 to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:28:40.587114+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.158",
"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": "2021-03-27T13:28:15.236955+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091, Meckel syndrome 2, MIM# 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:28:12.173008+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM216 were set to ",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:27:39.787116+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.156",
"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": "2021-03-27T13:27:09.359586+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091, Meckel syndrome 2, MIM# 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:24:25.040948+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM138 as ready",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:24:25.021054+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem138 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:24:22.416720+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:23:53.816595+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:23:32.783760+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM138 as Red List (low evidence)",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:23:32.774533+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem138 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:23:09.395347+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM138: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:22:40.737944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM138 as ready",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:22:40.726448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem138 has been classified as Green List (High Evidence).",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:22:32.416555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:22:13.216871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM138 were set to ",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:21:54.758879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:21:37.525098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ataxia not specifically reported in association with this gene.; to: At least 5 unrelated families reported.",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:21:25.352597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM138: Changed rating: GREEN; Changed publications: 22282472, 28102635, 27434533; Changed phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:20:56.142398+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM138 as ready",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:20:56.131486+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem138 has been classified as Green List (High Evidence).",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:20:53.854450+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:20:26.302332+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM138 were set to ",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:20:04.575442+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:19:34.691584+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: 22282472, 28102635, 27434533; Phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:18:50.815513+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM138 as ready",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:18:50.804746+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem138 has been classified as Green List (High Evidence).",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:18:46.924883+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:18:24.371616+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM138 were set to ",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:18:01.381250+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T13:17:36.190319+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: 22282472, 28102635, 27434533; Phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2021-03-27T12:04:05.752216+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN3 as ready",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-03-27T12:04:05.741857+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn3 has been classified as Green List (High Evidence).",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-03-27T12:04:03.210973+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-03-27T12:03:33.461332+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN3 were set to ",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-03-27T12:03:03.749225+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-03-27T12:02:34.127028+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 32139166, 25118024; Phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-03-27T11:59:17.076116+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN2 as ready",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2021-03-27T11:59:17.061042+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn2 has been classified as Red List (Low Evidence).",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2021-03-27T11:59:13.489088+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2021-03-27T11:58:46.392909+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN2 were set to ",
"entity_name": "TCTN2",
"entity_type": "gene"
}
]
}