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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=548",
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"results": [
{
"created": "2023-09-16T16:38:32.949234+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR45 as ready",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:38:32.926446+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:37:19.742614+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR45 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; neurodegeneration with brain iron accumulation 5 MONDO:0010476",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:34:38.459708+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR45 were set to ",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:34:03.882812+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR45 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:32:50.012484+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR73 as ready",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:32:49.998552+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr73 has been classified as Green List (High Evidence).",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:29:35.794735+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1 MONDO:0033005",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:29:01.458120+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR73 were set to ",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:24:06.373990+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:23:14.294108+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:23:14.278532+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:23:09.405196+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD4 were changed from to Myhre syndrome MIM#139210",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:22:40.966712+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD4 were set to ",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:22:07.906631+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:19:02.178523+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WWOX as ready",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:19:02.153172+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wwox has been classified as Green List (High Evidence).",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:18:57.730113+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WWOX were changed from to developmental and epileptic encephalopathy, 28 MONDO:0014533; autosomal recessive spinocerebellar ataxia 12 MONDO:0013687",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:18:25.316584+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WWOX were set to ",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:17:25.484662+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WWOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:16:35.262067+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XRCC4 as ready",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:16:35.253300+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xrcc4 has been classified as Green List (High Evidence).",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:16:31.077114+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction MIM#616541, MONDO:0014686",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:16:01.686184+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XRCC4 were set to ",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:15:18.042732+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:14:24.612913+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2B as ready",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:14:24.603226+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Green List (High Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:14:15.887108+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7 MIM#610031",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:13:49.583984+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2B were set to ",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:13:05.529654+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:12:07.953632+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZDHHC9 as ready",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:12:07.934047+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zdhhc9 has been classified as Green List (High Evidence).",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:12:03.681341+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZDHHC9 were changed from to Syndromic X-linked intellectual disability Raymond type MONDO:0010427",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:11:30.263762+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZDHHC9 were set to ",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:10:56.074028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZDHHC9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:10:04.071908+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFYVE26 as ready",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:10:04.061815+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfyve26 has been classified as Green List (High Evidence).",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:09:58.249571+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFYVE26 were changed from to Spastic paraplegia 15, autosomal recessive, MIM#\t270700; hereditary spastic paraplegia 15, MONDO:0010044",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:09:20.192636+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZFYVE26 were set to ",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-09-16T16:08:44.899461+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZFYVE26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-09-16T14:31:18.143707+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC2 as ready",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2023-09-16T14:31:18.129377+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic2 has been classified as Green List (High Evidence).",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2023-09-16T14:31:13.272976+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC2 were changed from to Holoprosencephaly 5 MONDO:0012322",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2023-09-16T14:30:34.529102+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZIC2 were set to ",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2023-09-16T14:09:50.106213+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZIC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:40:33.422264+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC1 as ready",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:40:33.406575+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:40:16.467615+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis MIM#191100",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:39:36.791186+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSC1 were set to ",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:38:51.872846+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:38:03.448464+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC2 as ready",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:38:03.435508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:37:57.225952+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis MIM#613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:37:21.217180+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSC2 were set to ",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:36:36.688300+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:35:59.280755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F2 were changed from 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 to Krithika Murali (Victorian Clinical Genetics Services)\t46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Current\t 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Edit; 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:35:38.143902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F2 were set to 24702954; 29478779; 31687637; 27363585; 29222010; 29663647",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:35:15.208638+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37500725; Phenotypes: Syndromic disease, MONDO:0002254, NR2F2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:34:16.196280+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F2 were changed from 46,XX disorder of sex development (DSD) and congenital heart defects to 46XX sex reversal 5, MIM# 618901",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:33:43.381333+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NR2F2: Changed phenotypes: 46XX sex reversal 5, MIM# 618901",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:32:56.039778+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F2 as ready",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:32:56.029194+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f2 has been classified as Green List (High Evidence).",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:32:49.673404+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F2 were changed from mild intellectual disability; congenital heart disease; disorder of sexual differentiation; dysmorphic features to Syndromic disease, MONDO:0002254, NR2F2-related",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:31:30.247701+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F2 were set to 29478779; 29663647",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:30:55.174945+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR2F2 as Green List (high evidence)",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T12:30:55.161676+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f2 has been classified as Green List (High Evidence).",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2023-09-16T07:27:58.288358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DBR1 were changed from {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem; Ichthyosis (MONDO#0019269), DBR1-related to {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem; Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-16T07:27:16.802379+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DBR1 were changed from Ichthyosis (MONDO#0019269), DBR1-related to Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-16T07:26:43.934524+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279; Phenotypes: Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-15T18:11:24.657484+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAC as ready",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2023-09-15T18:11:24.643944+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trac has been classified as Red List (Low Evidence).",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2023-09-15T18:11:16.169842+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAC was added\ngene: TRAC was added to BabyScreen+ newborn screening. Sources: Expert Review\nfounder, technically challenging tags were added to gene: TRAC.\nMode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAC were set to 21206088\nPhenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387\nReview for gene: TRAC was set to RED\nAdded comment: Single variant reported to date in 6 patients; 2 unrelated children from consanguineous families of Pakistani descent (PMID: 21206088); 1 non-consanguineous family from North-west India (PMID: 33909184) and 1 consanguineous parents of East Indian (https://lymphosign.com/doi/10.14785/lymphosign-2022-0001)\r\n\r\nAlso note annotation issues in certain variant curation and annotation tools. \nSources: Expert Review",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2023-09-15T18:09:48.413894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: TRAC.",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2023-09-15T18:08:44.701255+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCF1 as Amber List (moderate evidence)",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2023-09-15T18:08:44.689664+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2023-09-15T18:08:32.396705+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NCF1: Changed rating: AMBER",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2023-09-15T15:12:22.238692+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: ABAT was added\ngene: ABAT was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABAT were set to 30617166\nPhenotypes for gene: ABAT were set to intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia\nReview for gene: ABAT was set to AMBER\ngene: ABAT was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2023-09-15T15:10:02.032892+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37317634; Phenotypes: paroxysmal dyskinesia, intellectual disability, drug resistant epilepsy, progressive neurological decline, chorea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2023-09-15T15:07:43.610735+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: XPR1 was added\ngene: XPR1 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: XPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XPR1 were set to 33433330\nPhenotypes for gene: XPR1 were set to brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE\nReview for gene: XPR1 was set to AMBER\ngene: XPR1 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2023-09-15T15:03:40.106596+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: CLDN5 was added\ngene: CLDN5 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLDN5 were set to 35714222; 36825455\nPhenotypes for gene: CLDN5 were set to familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy\nPenetrance for gene: CLDN5 were set to Incomplete\nReview for gene: CLDN5 was set to GREEN\ngene: CLDN5 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2023-09-15T14:58:11.959684+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: KIAA1161 was added\ngene: KIAA1161 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1161 were set to 34346093; 34783389; 32303062\nPhenotypes for gene: KIAA1161 were set to paroxysmal dyskinesia; brain calcification; episodic hemiparesis\nPenetrance for gene: KIAA1161 were set to Complete\nReview for gene: KIAA1161 was set to GREEN\ngene: KIAA1161 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2023-09-15T14:53:00.345749+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: PRKN was added\ngene: PRKN was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKN were set to 37205242\nPhenotypes for gene: PRKN were set to paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism\nPenetrance for gene: PRKN were set to Incomplete\nReview for gene: PRKN was set to AMBER\nAdded comment: Only a single report but the phenotypic description and accompanying parkinsonism make this a likely robust finding. \nSources: Literature",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2023-09-15T14:49:19.336217+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.112",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: NBEA was added\ngene: NBEA was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NBEA were set to 33692494\nPhenotypes for gene: NBEA were set to Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability\nPenetrance for gene: NBEA were set to unknown\nReview for gene: NBEA was set to AMBER\nAdded comment: only one report and I have seen a poster from an independent group (not published yet) \nSources: Literature",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2023-09-15T13:35:23.452346+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: HBA1.\nTag treatable tag was added to gene: HBA1.",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2023-09-15T13:34:52.436218+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: HBA2.\nTag technically challenging tag was added to gene: HBA2.",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2023-09-15T13:34:24.880965+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: HBA1.",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2023-09-15T13:33:35.625976+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: IKBKG.",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2023-09-15T13:32:50.182175+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGHM as Green List (high evidence)",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2023-09-15T13:32:50.154786+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighm has been classified as Green List (High Evidence).",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2023-09-15T13:32:35.661828+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: RefSeq annotation issues.; to: RefSeq annotation issues. Specific rescue loop built to capture variants.",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2023-09-15T13:32:18.072654+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IGHM: Changed rating: GREEN",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2023-09-15T13:25:11.326176+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227; Phenotypes: complex cortical dysplasia with other brain malformations 1 MONDO:0013541; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2023-09-15T13:13:31.751862+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37529938, 35661708, 27538619, 24526230; Phenotypes: hypomyelinating leukodystrophy 6 MONDO:0012905, torsion dystonia 4 MONDO:0007493; Mode of inheritance: None",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2023-09-15T11:42:25.624221+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 22815559, 11196107, 10585338; Phenotypes: Segawa syndrome, recessive MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2023-09-15T11:29:15.719200+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194675, 1859181, 23470840; Phenotypes: Cowden syndrome 1 MIM#158350, Lhermitte-Duclos disease MIM#158350, Macrocephaly/autism syndrome MIM#605309, Prostate cancer, somatic MIM#176807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-09-15T11:24:44.079541+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706637, 23603762; Phenotypes: complex cortical dysplasia with other brain malformations 4 MONDO:0014171, lissencephaly spectrum disorders MONDO:0018838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2023-09-15T11:15:03.780674+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301368; Phenotypes: Saethre-Chotzen syndrome MONDO:0007042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2023-09-15T11:10:19.244399+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811063; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:53:46.271996+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301323; Phenotypes: Angelman syndrome MONDO:0007113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2023-09-15T10:49:17.122860+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5399",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1492653, 23322652; Phenotypes: Cardiomyopathy, dilated, 1GG MIM#613642, Mitochondrial complex II deficiency, nuclear type 1 MIM#252011, Neurodegeneration with ataxia and late-onset optic atrophy MIM#619259, Paragangliomas MIM#614165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHA",
"entity_type": "gene"
}
]
}