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{
"count": 220467,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1283",
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"results": [
{
"created": "2021-06-27T15:45:46.745187+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP164: Added comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.; Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:45:08.236780+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP164 as ready",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:45:08.226316+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Green List (High Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:45:03.668889+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:44:39.165536+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP164 were set to ",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:44:13.959455+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:43:42.358321+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: None; Publications: 34132027, 34013113, 32055034, 27708425, 22863007; Phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:42:50.618325+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP164 as ready",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:42:50.607927+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Green List (High Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:42:44.558468+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP164 as Green List (high evidence)",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:42:44.549561+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Green List (High Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:42:11.800729+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP164 was added\ngene: CEP164 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP164 were set to 34132027; 34013113; 32055034; 27708425; 22863007\nPhenotypes for gene: CEP164 were set to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome\nReview for gene: CEP164 was set to GREEN\nAdded comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype. \nSources: Expert Review",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:40:17.868791+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP164 as ready",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:40:17.859163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Green List (High Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:40:09.624549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:39:51.349672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP164 were set to ",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:39:32.284544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:39:13.307668+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP164 as ready",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:39:13.297987+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Green List (High Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:39:05.289138+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: None; Publications: 34132027, 34013113, 32055034, 27708425, 22863007; Phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:38:19.444727+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP164 were changed from Nephronophthisis 15, MIM#\t614845 to Bardet-Biedl syndrome",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:38:00.169248+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP164 were set to ",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:37:24.512476+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP164 as Green List (high evidence)",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:37:24.503282+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Green List (High Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:36:59.388939+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:36:52.999188+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype. \nSources: Expert list; to: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype. \r\nSources: Expert list",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:36:28.579053+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP164: Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:36:27.744524+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP164 were set to ",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:35:56.697067+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:35:26.357179+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype. \nSources: Expert list; to: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype. \r\nSources: Expert list",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:34:50.408294+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP164: Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:30:53.655590+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP120 as ready",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:30:53.639095+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.74",
"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": "2021-06-27T15:30:50.652214+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:30:22.254552+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP120 were set to ",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:30:00.159648+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:29:51.332288+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP120 as ready",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:29:51.321634+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.335",
"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": "2021-06-27T15:29:41.341322+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP120 as ready",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:29:41.328177+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.212",
"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": "2021-06-27T15:29:39.225980+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:29:28.392087+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361962, 27208211; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:29:14.540499+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP120 were set to ",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:28:28.567563+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361962, 27208211; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:26:47.793565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP120 as ready",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:26:47.780718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8139",
"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": "2021-06-27T15:26:23.078587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP120 were changed from to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:25:51.499922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP120 were set to ",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:25:33.806826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:25:27.778050+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP120 were changed from Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:25:13.616662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208211, 33486889, 29847808, 25361962, 27208211; Phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:25:08.017431+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP120 were changed from to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:24:31.189316+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP120 were set to ",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:23:34.245314+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families with JBTS reported. Note variants in this gene also cause SRTD. Functional data. \nSources: Expert list; to: More than 5 unrelated families with JBTS reported, and at least three families with SRTD. Functional data. \r\nSources: Expert list",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:23:11.562799+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP120: Changed publications: 27208211, 33486889, 29847808, 25361962, 27208211; Changed phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:20:22.037322+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:19:24.913337+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:18:41.176977+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP104: Changed phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:18:07.555373+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:17:36.690151+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP104: Changed phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T20:10:29.861098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP104 as ready",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T20:10:29.838342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep104 has been classified as Green List (High Evidence).",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T20:10:19.944944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP104 were changed from to Joubert syndrome 25, MIM# 616781; MONDO:0014770",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T20:09:55.722083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP104 were set to ",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:57:20.767146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:56:37.681378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 26477546; Phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:56:21.701281+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:55:01.645715+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP104 as ready",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:55:01.617827+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep104 has been classified as Green List (High Evidence).",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:54:58.734111+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP104 were changed from to Joubert syndrome 25, MIM# 616781",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:54:34.118972+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP104 were set to ",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:54:10.408682+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:52:17.205556+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C5orf42.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:51:31.266466+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C5orf42 as ready",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:51:31.255671+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5orf42 has been classified as Green List (High Evidence).",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:51:26.682510+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:51:01.141354+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C5orf42 were set to ",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:50:34.161144+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:49:40.936350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:48:43.669157+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C5orf42 as ready",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:48:43.658236+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5orf42 has been classified as Red List (Low Evidence).",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:48:41.253254+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:48:16.395384+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:47:45.599564+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C5orf42 as Red List (low evidence)",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:47:45.590057+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5orf42 has been classified as Red List (Low Evidence).",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:47:21.352362+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:46:50.314431+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C5orf42 as ready",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:46:50.304198+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5orf42 has been classified as Green List (High Evidence).",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:46:41.963476+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:46:12.984087+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C5orf42.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:46:05.949690+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C5orf42 were set to ",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:45:34.505337+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:44:13.546850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C5orf42.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:43:54.340536+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C5orf42.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:43:37.441688+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17, MIM# 614615 to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM#\t277170",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:43:14.881917+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C5orf42 were set to 22425360",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:42:49.348594+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease associations both with prominent neurological features. More than 10 unrelated families reported with each association.\r\n\r\nNew gene name is CPLANE1.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:42:28.736636+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C5orf42: Changed publications: 22425360, 24178751; Changed phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:41:51.580705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C5orf42 as ready",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:41:51.571053+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5orf42 has been classified as Green List (High Evidence).",
"entity_name": "C5orf42",
"entity_type": "gene"
}
]
}