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{
"count": 221385,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=575",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=573",
"results": [
{
"created": "2023-07-28T10:38:57.998733+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PROC as Green List (high evidence)",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:38:57.987774+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: proc has been classified as Green List (High Evidence).",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:37:56.466551+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:37:56.454342+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:37:52.347945+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157; Retinitis pigmentosa 76 MIM#617123 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:35:25.311637+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMGNT1 as Green List (high evidence)",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:35:25.296385+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:34:28.880538+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHA1 as ready",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:34:28.859816+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdha1 has been classified as Green List (High Evidence).",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:34:22.824263+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency; HMSN to Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:34:00.633576+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDHA1 were set to ",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:33:39.996497+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36693417, 33661577; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:31:23.843219+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POGZ as ready",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:31:23.833760+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pogz has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:31:19.056507+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POGZ as Amber List (moderate evidence)",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:31:19.045402+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pogz has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:30:33.877796+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTRK1 as ready",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:30:33.864659+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntrk1 has been classified as Green List (High Evidence).",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:30:25.150936+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NTRK1 were changed from HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis to hereditary sensory and autonomic neuropathy type 4 MONDO:0009746",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:30:04.723562+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NTRK1 were set to ",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:29:23.216050+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA6 as ready",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:29:23.203356+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:29:16.123753+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA6 were changed from Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39 MIM#612020 to Spastic paraplegia 39 MIM#612020",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:28:43.446122+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNPLA6 as Amber List (moderate evidence)",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:28:43.435257+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:26:46.360876+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX6 as ready",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:26:46.349348+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx6 has been classified as Green List (High Evidence).",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:26:42.940124+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX6 were changed from Mayer-Rokitansky-Küster-Hauser syndrome; Combined skeletal-kidney dysplasia syndrome to Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related; Combined skeletal-kidney dysplasia syndrome",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2023-07-28T10:25:42.939440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5, 122600 to Spondylocostal dysostosis 5, 122600; Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:51:29.852007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP4 as ready",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:51:29.833767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp4 has been classified as Green List (High Evidence).",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:51:21.409462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WBP4 were changed from Neurodevelopmental disorder, MONDO:0700092, WBP4-related to Neurodevelopmental disorder, MONDO:0700092, WBP4-related",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:50:27.544483+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP4 as ready",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:50:27.535000+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp4 has been classified as Green List (High Evidence).",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:50:22.998629+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WBP4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, WBP4-related",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:49:44.953059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP4 as ready",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:49:44.941504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp4 has been classified as Green List (High Evidence).",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:49:32.420908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WBP4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, WBP4-related",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:48:34.552022+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM2A as ready",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:48:34.539158+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm2a has been classified as Green List (High Evidence).",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:48:29.313220+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM2A were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:47:43.790868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM2A as ready",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:47:43.782875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm2a has been classified as Green List (High Evidence).",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:47:35.897837+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM2A were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:46:19.915945+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIP5K1C as ready",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:46:19.905578+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:46:15.929996+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:45:36.644538+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIP5K1C as ready",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:45:36.635138+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Green List (High Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:45:34.002056+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:44:48.368859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIP5K1C were changed from Lethal congenital contractural syndrome 3, MIM# 611369 to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related; Lethal congenital contractural syndrome 3, MIM# 611369",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:44:03.839089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIP5K1C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:43:45.838069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIP5K1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:41:40.190407+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS13 as ready",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:41:40.180134+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints13 has been classified as Green List (High Evidence).",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:41:36.552161+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:41:18.984267+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS13 as ready",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:41:18.971585+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints13 has been classified as Green List (High Evidence).",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:41:16.528471+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:41:01.439822+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS13 as ready",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:41:01.430167+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints13 has been classified as Green List (High Evidence).",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:40:57.159738+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:40:24.288198+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS13 as ready",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:40:24.274460+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints13 has been classified as Green List (High Evidence).",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:40:20.137875+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:39:35.978596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS13 as ready",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:39:35.964410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints13 has been classified as Green List (High Evidence).",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:38:58.716324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related",
"entity_name": "INTS13",
"entity_type": "gene"
},
{
"created": "2023-07-27T16:32:51.935225+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2023-07-27T13:46:52.131921+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KLK1 was added\ngene: KLK1 was added to Pulmonary Arterial Hypertension. Sources: Other\nMode of inheritance for gene: KLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KLK1 were set to 31727138; 17573418\nPhenotypes for gene: KLK1 were set to Pulmonary arterial hypertension MONDO:0015924\nReview for gene: KLK1 was set to AMBER\nAdded comment: PMID: 31727138\r\nscreening of the biobank - 12 individuals with genetic variant in KLK1 relevant to PAH (not all were found to be hereditary). Assay showed that carriers of variants in KLK1 are less clinically severe compared to those who carry variants in BMPR2.\r\n\r\nPMID: 17573418\r\nFunctional study using sensitive and specific type ELISAs to assay multiple panels of human tissue. KLK1 tissue was abundantly expressed in the pancreas and salivary gland and moderately expressed in the lungs. \r\n\r\nReviewed by ClinGen Pulmonary Hypertension GCEP on 30/8/2022 with limited evidence supporting gene-disease validation \nSources: Other",
"entity_name": "KLK1",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:20:16.264001+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEFM as ready",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:20:16.240343+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tefm has been classified as Green List (High Evidence).",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:20:09.746009+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TEFM as Green List (high evidence)",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:20:09.736895+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tefm has been classified as Green List (High Evidence).",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:19:36.463968+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEFM was added\ngene: TEFM was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEFM were set to 36823193\nPhenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, MIM# 620451\nReview for gene: TEFM was set to GREEN\nAdded comment: Seven individuals from 5 families reported. Presentation predominantly with encephalopathy, seizures and ID, in addition to lactic acidosis. \nSources: Literature",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:18:00.179382+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEFM as ready",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:18:00.169123+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tefm has been classified as Green List (High Evidence).",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:17:55.208867+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TEFM as Green List (high evidence)",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:17:55.198130+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tefm has been classified as Green List (High Evidence).",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:12:01.767229+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEFM was added\ngene: TEFM was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEFM were set to 36823193\nPhenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, MIM# 620451\nReview for gene: TEFM was set to GREEN\nAdded comment: Seven individuals from 5 families reported. Presentation predominantly with encephalopathy, seizures and ID, in addition to lactic acidosis. \nSources: Literature",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:11:17.318787+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:10:46.503224+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:10:15.285951+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TEFM were changed from Mitochondrial disease (MONDO#0044970), TEFM-related to Combined oxidative phosphorylation deficiency 58, MIM# 620451",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:09:17.600560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TEFM were changed from Mitochondrial disease (MONDO#0044970), TEFM-related to Combined oxidative phosphorylation deficiency 58, MIM#\t620451",
"entity_name": "TEFM",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:07:37.020099+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP3K14 were changed from NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels to Immunodeficiency 112, MIM# 620449; NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels",
"entity_name": "MAP3K14",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:06:53.857396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP3K14 were changed from NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels to Immunodeficiency 112, MIM# 620449; NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels",
"entity_name": "MAP3K14",
"entity_type": "gene"
},
{
"created": "2023-07-27T12:06:26.429364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAP3K14: Changed phenotypes: Immunodeficiency 112, MIM# 620449, NIK deficiency, Poor T cell proliferation to antigen, Low B-cell numbers, Low NK number and function, recurrent bacterial/viral/ cryptosporidium infections, hypogammaglobulinaemia, decreased immunoglobulin levels",
"entity_name": "MAP3K14",
"entity_type": "gene"
},
{
"created": "2023-07-26T18:04:34.355071+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2023-07-26T18:04:06.887793+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2023-07-26T18:02:59.891865+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC20A1 as ready",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2023-07-26T18:02:59.878286+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2023-07-26T18:02:53.509053+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2023-07-26T18:00:47.701850+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness\tMIM#617879 to Leber congenital amaurosis with early-onset deafness\tMIM#617879; Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-26T17:59:36.437769+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB4B as ready",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-26T17:59:36.426945+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb4b has been classified as Green List (High Evidence).",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-26T17:59:33.906298+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB4B were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-26T17:58:41.010412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879; MONDO:0060650 to Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879; MONDO:0060650; Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-07-26T17:54:15.578654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYHR1 as ready",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-26T17:54:15.567813+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyhr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-26T17:54:02.712957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related",
"entity_name": "CYHR1",
"entity_type": "gene"
}
]
}