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{
"count": 220464,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1284",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1282",
"results": [
{
"created": "2021-06-26T17:40:20.188353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nNew gene name is CPLANE1.; to: Well established gene-disease associations. More than 10 families reported with each association.\r\n\r\nNew gene name is CPLANE1.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:39:59.645161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:39:51.823284+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nNew gene name is CPLANE1.; to: Well established gene-disease associations. More than 10 unrelated families reported with each association.\r\n\r\nNew gene name is CPLANE1.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:39:31.659132+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.328",
"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": "2021-06-26T17:38:41.970631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C5orf42: Changed phenotypes: Joubert syndrome 17, MIM# 614615, Orofaciodigital syndrome VI, MIM# 277170",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:38:26.310375+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C5orf42: Changed publications: 22425360, 24178751",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:37:58.184154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C5orf42: Added comment: Well established gene-disease association.\r\n\r\nNew gene name is CPLANE1.; Changed publications: 22425360",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:37:19.642637+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.\r\n\r\nNew gene name is CPLANE1.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:37:04.266092+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.328",
"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": "2021-06-26T17:36:31.343567+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C5orf42 as ready",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:36:31.332745+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.328",
"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": "2021-06-26T17:36:27.980057+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:35:49.503476+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C5orf42 were set to ",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:35:21.930017+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.326",
"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": "2021-06-26T17:34:09.051765+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C21orf2.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:34:01.688084+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 7 families also reported with isolated retinal dystrophy.; to: 7 families also reported with isolated retinal dystrophy.\r\n\r\nNew HGNC approved name is CFAP410.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:33:40.409053+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": "Tag new gene name tag was added to gene: C21orf2.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:33:33.207306+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": "changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.\r\n\r\nNew HGNC approved name is CFAP410.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:33:11.760848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.\r\n\r\n7 families also reported with isolated retinal dystrophy.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.\r\n\r\n7 families also reported with isolated retinal dystrophy.\r\n\r\nNew HGNC approved name is CFAP410.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:32:56.932886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C21orf2.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:32:38.992165+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.\r\n\r\n7 families also reported with isolated retinal dystrophy.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.\r\n\r\n7 families also reported with isolated retinal dystrophy.\r\n\r\nNew HGNC approved name is CFAP410.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:32:29.742641+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C21orf2.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:31:54.503324+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C21orf2 as ready",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:31:54.491983+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c21orf2 has been classified as Green List (High Evidence).",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:31:43.766597+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C21orf2 as ready",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:31:43.756987+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c21orf2 has been classified as Green List (High Evidence).",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:31:39.385871+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C21orf2 were set to 30679166",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:31:25.638464+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26294103, 23105016, 27548899; Phenotypes: Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:30:29.049646+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": "Marked gene: C21orf2 as ready",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:30:29.039688+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": "Gene: c21orf2 has been classified as Green List (High Evidence).",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:30:26.731150+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": "Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:30:05.142690+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C21orf2 were set to ",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:29:46.004974+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:29:16.078945+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26974433, 27548899, 28422394; Phenotypes: Spondylometaphyseal dysplasia, axial, MIM# 602271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:28:24.844891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C21orf2 as ready",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:28:24.835597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c21orf2 has been classified as Green List (High Evidence).",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:28:18.070533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271; Retinal dystrophy with macular staphyloma, MIM# 617547",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:27:29.558867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C21orf2 were set to ",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:27:01.181288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:26:42.889536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26974433, 27548899, 28422394, 26294103, 23105016, 27548899; Phenotypes: Spondylometaphyseal dysplasia, axial, MIM# 602271, Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:26:40.171785+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271; Retinal dystrophy with macular staphyloma, MIM# 617547",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:26:19.470465+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C21orf2 were set to ",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:25:40.279569+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T17:25:16.370647+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26974433, 27548899, 28422394, 26294103, 23105016, 27548899; Phenotypes: Spondylometaphyseal dysplasia, axial, MIM# 602271, Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:50:56.391343+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS9 as ready",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:50:56.380339+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs9 has been classified as Green List (High Evidence).",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:50:54.176224+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:50:23.868279+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS9 were set to ",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:49:58.218691+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:49:26.178233+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:48:30.745736+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": "Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:48:19.042028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS9 as ready",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:48:19.004736+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs9 has been classified as Green List (High Evidence).",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:48:13.424170+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:47:45.923748+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS9 were set to ",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:47:13.335523+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:46:38.442031+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:45:54.673660+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, polydactyly is a key feature.",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:45:30.044472+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS9 as ready",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:45:29.997171+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs9 has been classified as Green List (High Evidence).",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:45:27.291344+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:45:04.114805+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS9 were set to ",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:44:31.152075+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BBS9: Changed phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:44:06.650561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS9 as ready",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:44:06.638182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs9 has been classified as Green List (High Evidence).",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:43:58.911373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:43:34.867103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS9 were set to ",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:43:05.770217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:42:43.625900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:41:56.655846+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, MIM#615986 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:40:45.531006+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS9 as ready",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:40:45.520084+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs9 has been classified as Green List (High Evidence).",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:40:42.753930+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:39:50.426412+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS9 were set to ",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:39:19.993871+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:03:57.443493+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS7 as ready",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:03:57.433244+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs7 has been classified as Green List (High Evidence).",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:03:42.503020+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:03:26.692019+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:02:57.306938+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS7 were set to ",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:02:32.724541+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:01:52.792672+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:00:47.555961+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS7 as ready",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:00:47.546587+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs7 has been classified as Green List (High Evidence).",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:00:43.337943+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T13:00:13.858970+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS7 were set to ",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:59:39.073277+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:59:04.478803+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:58:17.844970+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS7 as ready",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:58:17.835586+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs7 has been classified as Green List (High Evidence).",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:57:55.621675+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS7 were set to ",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:57:37.864061+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:56:46.778450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS7 as ready",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:56:46.768505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs7 has been classified as Green List (High Evidence).",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:56:36.609614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:56:23.915463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS7 were set to ",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:56:04.491071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:55:45.684500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:54:56.059285+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, MIM# 615984 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2021-06-26T12:54:11.910680+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS7 as ready",
"entity_name": "BBS7",
"entity_type": "gene"
}
]
}