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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1295",
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"results": [
{
"created": "2021-06-15T20:43:33.834301+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:43:27.108386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:42:56.623659+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTC1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:42:56.188057+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:42:21.677722+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTC1 were set to ",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:41:59.881110+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:41:28.715237+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CTC1: Changed phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:41:10.497765+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:16:58.788583+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRIP1 as ready",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:16:58.775762+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Green List (High Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:16:54.683506+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:16:24.823390+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRIP1 were set to ",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:15:58.178462+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:15:27.277853+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:09:59.083333+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA2 as ready",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:09:59.072475+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:09:55.905785+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from to Fanconi anaemia, complementation group D1, MIM# 605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:09:29.039767+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:09:00.224031+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:08:13.714831+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:08:04.377304+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:07:29.771608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD26 as ready",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:07:29.761785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd26 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:07:22.553883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD26 were changed from to Thrombocytopaenia 2, MIM# 188000",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:07:01.040665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD26 were set to ",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:06:42.695824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKRD26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:06:23.276672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:06:15.196631+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:06:10.372827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:05:46.146012+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD26 as ready",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:05:46.136536+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd26 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:05:31.323682+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD26 were changed from to Thrombocytopaenia 2, MIM# 188000",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:05:08.875186+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD26 were set to ",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:04:46.924424+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKRD26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:04:31.979984+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD26 were changed from Thrombocytopenia 2, MIM#\t188000 to Thrombocytopaenia 2, MIM#\t188000",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:04:06.753987+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:03:53.385880+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANKRD26: Changed phenotypes: Thrombocytopaenia 2, MIM# 188000",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:00:26.768850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AK2 as ready",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:00:26.758608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ak2 has been classified as Green List (High Evidence).",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:00:19.643186+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AK2 were changed from to Reticular dysgenesis, MIM# 267500",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:59:55.853254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK2 were set to ",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:59:39.616104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:59:23.087796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416; Phenotypes: Reticular dysgenesis, MIM# 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:58:39.582628+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AK2 as ready",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:58:39.571646+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ak2 has been classified as Green List (High Evidence).",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:58:36.395662+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AK2 were changed from to Reticular dysgenesis, MIM# 267500",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:57:08.222084+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK2 were set to ",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:55:22.159961+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:54:13.268314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADA2 as ready",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:54:13.256666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada2 has been classified as Green List (High Evidence).",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:54:05.901437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:53:45.399845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADA2 were set to ",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:53:21.218477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:53:02.469226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ADA2: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some affected individuals have immunodeficiency. At least 10 unrelated families reported, the p.Gly47Arg variant is a common founder variant in the Jewish population.",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:52:55.277159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285, 33791889; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:51:58.094844+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADA2 as ready",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:51:58.075630+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada2 has been classified as Green List (High Evidence).",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:51:55.294044+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:50:48.073893+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADA2 were set to ",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:50:20.236985+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:49:32.914616+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ADA2.",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T19:49:24.369979+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285, 33791889; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:16:09.968088+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: NF2.",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:15:18.215783+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT74 as Green List (high evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:15:18.205848+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:14:44.368844+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT74 was added\ngene: IFT74 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to 27486776; 32144365; 33531668\nPhenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome\nReview for gene: IFT74 was set to GREEN\nAdded comment: Two individuals reported with BBS phenotype.\r\n\r\nPMID 33531668: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants. \nSources: Literature",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:10:55.403445+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:10:34.283661+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT74 were set to 27486776",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:09:54.624637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:09:11.010785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT74 were set to 27486776; 32144365",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:08:50.328493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Added comment: PMID 33531668: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants.; Changed publications: 27486776, 32144365, 33531668; Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:07:28.306206+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": "Marked gene: IFT74 as ready",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:07:28.295983+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": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:06:35.209173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX4 as ready",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:06:35.198655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx4 has been classified as Green List (High Evidence).",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:06:24.406937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFX4 as Green List (high evidence)",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:06:24.397710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx4 has been classified as Green List (High Evidence).",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:06:05.762133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFX4 was added\ngene: RFX4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RFX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RFX4 were set to 33658631\nPhenotypes for gene: RFX4 were set to ID, ASD, ADHD\nReview for gene: RFX4 was set to GREEN\nAdded comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis. \nSources: Literature",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:04:49.134021+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX4 as ready",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:04:49.120274+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx4 has been classified as Green List (High Evidence).",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:04:11.606587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX3 as ready",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:04:11.596294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx3 has been classified as Green List (High Evidence).",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:03:57.918102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFX3 as Green List (high evidence)",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:03:57.908739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx3 has been classified as Green List (High Evidence).",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:03:41.436125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFX3 was added\ngene: RFX3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RFX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RFX3 were set to 33658631\nPhenotypes for gene: RFX3 were set to ID, ASD, ADHD\nReview for gene: RFX3 was set to GREEN\nAdded comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis. \nSources: Literature",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:02:12.455727+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX3 as ready",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:02:12.444024+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx3 has been classified as Green List (High Evidence).",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:01:44.095183+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX7 as ready",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:01:44.085405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx7 has been classified as Green List (High Evidence).",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:01:27.509653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFX7 as Green List (high evidence)",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:01:27.499796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx7 has been classified as Green List (High Evidence).",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T17:01:06.524904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFX7 was added\ngene: RFX7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RFX7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RFX7 were set to 33658631\nPhenotypes for gene: RFX7 were set to ID, ASD, ADHD\nReview for gene: RFX7 was set to GREEN\nAdded comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis. \nSources: Literature",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:59:53.260251+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX7 as ready",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:59:53.250491+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx7 has been classified as Green List (High Evidence).",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:59:02.875941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA3F as ready",
"entity_name": "SEMA3F",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:59:02.866117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3f has been classified as Green List (High Evidence).",
"entity_name": "SEMA3F",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:58:53.374083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA3F as Green List (high evidence)",
"entity_name": "SEMA3F",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:58:53.362771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3f has been classified as Green List (High Evidence).",
"entity_name": "SEMA3F",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:58:37.328949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA3F was added\ngene: SEMA3F was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA3F were set to 33495532\nPhenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism\nReview for gene: SEMA3F was set to GREEN\nAdded comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 10 individuals from 7 families with heterozygous SEMA3F missense variants. In 4 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Provide unequivocal human embryonic data showing the expression of SEMA3F along the developing human GnRH migratory pathway. SEMA3Fs harboring the P452T, T29M, and T724M missense variants showed impaired SEMA3F secretion in whole cell lysates. \nSources: Literature",
"entity_name": "SEMA3F",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:56:39.669464+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA3F as ready",
"entity_name": "SEMA3F",
"entity_type": "gene"
}
]
}