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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=444",
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"results": [
{
"created": "2024-05-27T19:21:50.806978+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BTD as ready",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:21:50.784507+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btd has been classified as Green List (High Evidence).",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:21:41.600597+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BTD were changed from to biotinidase deficiency MONDO:0009665",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:20:57.160003+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BTD were set to ",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:20:15.853277+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BTD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:19:12.493566+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSCL2 as ready",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:19:12.481277+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bscl2 has been classified as Red List (Low Evidence).",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:19:07.925468+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BSCL2 as Red List (low evidence)",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:19:07.910637+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bscl2 has been classified as Red List (Low Evidence).",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:18:22.086750+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSCL2 as ready",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:18:22.069199+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bscl2 has been classified as Green List (High Evidence).",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:18:18.083755+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from to congenital generalized lipodystrophy type 2 MONDO:0010020",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:17:39.240872+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BSCL2 were set to ",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:16:58.465085+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BSCL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:15:50.743872+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCS1L as ready",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:15:50.729669+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcs1l has been classified as Green List (High Evidence).",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:15:45.395962+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome MONDO:0009872",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:15:10.408515+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCS1L were set to ",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:14:30.712638+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:12:03.840771+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHB as ready",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:12:03.827321+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdhb has been classified as Green List (High Evidence).",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:06:04.480514+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHB were changed from to maple syrup urine disease type 1B MONDO:0023692",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:05:26.892915+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCKDHB were set to ",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:04:44.043393+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:03:54.881829+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHA as ready",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:03:54.867874+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdha has been classified as Green List (High Evidence).",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:03:50.336214+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHA were changed from to maple syrup urine disease type 1A MONDO:0023691",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:03:10.966728+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCKDHA were set to ",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:02:22.886271+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:01:22.661434+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS2 as ready",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:01:22.639122+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs2 has been classified as Green List (High Evidence).",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:01:04.130023+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2 MONDO:0014432",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:00:20.363078+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS2 were set to ",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:59:41.563325+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:58:51.390576+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS12 as ready",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:58:51.373933+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs12 has been classified as Green List (High Evidence).",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:58:43.154891+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12 MONDO:0014440",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:58:03.504619+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS12 were set to ",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:57:19.812622+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:56:27.908639+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS10 as ready",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:56:27.895476+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs10 has been classified as Green List (High Evidence).",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:56:22.327209+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10 MONDO:0014438",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:55:43.576126+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS10 were set to ",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:55:05.327961+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:54:19.614517+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS1 as ready",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:54:19.600749+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs1 has been classified as Green List (High Evidence).",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:54:14.399915+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1 MONDO:0008854",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:53:36.415337+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS1 were set to ",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:43:36.245745+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:41:09.920389+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:41:09.904474+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:41:04.754196+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCE were changed from to Encephalopathy, progressive, with amyotrophy and optic atrophy MIM:617207; Hypoparathyroidism-retardation-dysmorphism syndrome MIM:241410",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:40:09.625447+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCE were set to ",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:39:17.644811+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:38:26.044625+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A1 as ready",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:38:26.027318+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:38:17.043915+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:37:20.206530+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A1 were set to ",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:36:36.861693+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-27T18:35:55.866367+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072, Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:54:20.791969+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: MYH2 was added\ngene: MYH2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MYH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYH2 were set to PMID: 38693247\nPhenotypes for gene: MYH2 were set to Congenital myopathy 6 with ophthalmoplegia, MIM#605637\nReview for gene: MYH2 was set to RED\nAdded comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:52:29.565068+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A MIM#609260, Hereditary motor and sensory neuropathy VIA MIM#601152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:50:35.092899+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: MED13L was added\ngene: MED13L was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MED13L were set to PMID: 38693247\nPhenotypes for gene: MED13L were set to Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM#616789\nReview for gene: MED13L was set to AMBER\nAdded comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:48:16.406404+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: MBD5 was added\ngene: MBD5 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MBD5 were set to PMID: 38693247\nPhenotypes for gene: MBD5 were set to Intellectual developmental disorder, autosomal dominant 1, MIM#156200\nReview for gene: MBD5 was set to AMBER\nAdded comment: 1 individuals with mono-allelic stopgain variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:46:07.046481+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: MACF1 was added\ngene: MACF1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MACF1 were set to PMID: 38693247\nPhenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM#618325\nReview for gene: MACF1 was set to AMBER\nAdded comment: 1 individual with mono-allelic LP missense variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Spasticity and involuntary movements described in some cases. \nSources: Literature",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:39:55.736774+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2D were set to PMID: 38693247\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM#147920\nReview for gene: KMT2D was set to AMBER\nAdded comment: 2 individuals with mono-allelic splice variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:36:58.820838+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Dystonia 28, childhood-onset MIM#617284, Intellectual developmental disorder, autosomal dominant MIM#619934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:35:15.554333+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Wiedemann-Steiner syndrome - #605130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:33:45.672910+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia 30, autosomal dominant, MIM# 610357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:32:19.918041+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:30:33.737098+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy MIM#614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:29:00.788341+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: KCNQ5 was added\ngene: KCNQ5 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNQ5 were set to PMID: 38693247\nPhenotypes for gene: KCNQ5 were set to Intellectual developmental disorder, autosomal dominant 46, MIM#617601\nReview for gene: KCNQ5 was set to AMBER\nAdded comment: 1 individual with mono-allelic splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.\r\n\r\nAdditional individuals described have motor delays, mostly with hypotonia (PMID: 35583973). \nSources: Literature",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:23:23.977043+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: KCNQ3 was added\ngene: KCNQ3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNQ3 were set to PMID: 38693247\nPhenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, 2, MIM#121201\nReview for gene: KCNQ3 was set to RED\nAdded comment: 1 individual with mono-allelic frameshift deletion and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. No evidence for clinical overlap. \nSources: Literature",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:20:15.338140+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: KCNH1 was added\ngene: KCNH1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNH1 were set to PMID: 38693247\nPhenotypes for gene: KCNH1 were set to Temple-Baraitser syndrome, MIM#611816; Zimmermann-Laband syndrome 1, MIM#135500\nReview for gene: KCNH1 was set to AMBER\nAdded comment: 4 individuals with mono-allelic LP missense variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:17:00.514073+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy 26, MIM#616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:14:33.612547+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: KAT6B was added\ngene: KAT6B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT6B were set to PMID: 38693247\nPhenotypes for gene: KAT6B were set to SBBYSS syndrome, MIM#603736; Genitopatellar syndrome, MIM#606170\nReview for gene: KAT6B was set to AMBER\nAdded comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:12:10.577916+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Arboleda-Tham syndrome MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:07:18.085008+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: HIVEP2 was added\ngene: HIVEP2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HIVEP2 were set to PMID: 38693247\nPhenotypes for gene: HIVEP2 were set to Intellectual developmental disorder, autosomal dominant 43, MIM#616977\nReview for gene: HIVEP2 was set to RED\nAdded comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:05:23.792894+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM#617268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2024-05-27T16:03:22.788595+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: GRIN2A was added\ngene: GRIN2A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIN2A were set to PMID: 38693247\nPhenotypes for gene: GRIN2A were set to Epilepsy, focal, with speech disorder and with or without impaired intellectual development, MIM#245570\nReview for gene: GRIN2A was set to RED\nAdded comment: 1 individual with mono-allelic frameshift deletion and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "GRIN2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:59:46.082741+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, autosomal dominant 42 MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:47:19.711041+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:46:02.748553+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: GATAD2B was added\ngene: GATAD2B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATAD2B were set to PMID: 38693247\nPhenotypes for gene: GATAD2B were set to GAND syndrome, MIM#615076\nReview for gene: GATAD2B was set to AMBER\nAdded comment: 2 individuals with mono-allelic stopgain variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Some clinical overlap with CP. \nSources: Literature",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:43:24.708836+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: GABBR2 was added\ngene: GABBR2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABBR2 were set to PMID: 38693247\nPhenotypes for gene: GABBR2 were set to Developmental and epileptic encephalopathy 59, MIM#617904; Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903\nReview for gene: GABBR2 was set to AMBER\nAdded comment: 1 individual with mono-allelic LP missense variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:39:04.734620+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: FUS was added\ngene: FUS was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FUS were set to PMID: 38693247\nPhenotypes for gene: FUS were set to Essential tremor, MIM#614782\nReview for gene: FUS was set to RED\nAdded comment: 1 individual with mono-allelic splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:34:50.589199+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGFR1 were set to PMID: 38693247\nPhenotypes for gene: FGFR1 were set to Hartsfield syndrome, MIM#615465\nReview for gene: FGFR1 was set to RED\nAdded comment: 1 individual reported with mono-allelic splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:32:27.920520+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: EZH2 was added\ngene: EZH2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EZH2 were set to PMID: 38693247\nPhenotypes for gene: EZH2 were set to Weaver syndrome, MIM#277590\nReview for gene: EZH2 was set to RED\nAdded comment: 1 individual reported with mono-allelic LP variant (frameshift deletion) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:29:15.621729+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: EHMT1 was added\ngene: EHMT1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EHMT1 were set to PMID: 38693247\nPhenotypes for gene: EHMT1 were set to Kleefstra syndrome, MIM#610253\nReview for gene: EHMT1 was set to RED\nAdded comment: Single individual reported with mono-allelic splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:27:13.654042+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy MIM#616409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:24:25.782563+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: DYRK1A: Rating: ; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, MIM#614104; Mode of inheritance: None",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:22:57.339237+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: DNMT3A was added\ngene: DNMT3A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNMT3A were set to PMID: 38693247\nPhenotypes for gene: DNMT3A were set to Heyn-Sproul-Jackson syndrome, MIM#618724; Tatton-Brown-Rahman syndrome, MIM#615879\nReview for gene: DNMT3A was set to AMBER\nAdded comment: 2 individuals reported with mono-allelic frameshift deletions in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:19:01.355166+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: DNM2 was added\ngene: DNM2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNM2 were set to PMID: 38693247\nPhenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal type 2M, MIM#606482\nReview for gene: DNM2 was set to RED\nAdded comment: 1 individual reported with mono-allelic missense variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:16:04.267842+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "changed review comment from: 1 individual reported with mono-allelic stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature; to: 1 individual reported with mono-allelic stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \r\nSources: Literature",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:15:50.026787+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: DLG4 was added\ngene: DLG4 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLG4 were set to PMID: 38693247\nPhenotypes for gene: DLG4 were set to Intellectual developmental disorder, autosomal dominant 62, MIM#618793\nReview for gene: DLG4 was set to AMBER\nAdded comment: 1 individual reported with mono-allelic stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:12:10.911287+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: DCC was added\ngene: DCC was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DCC were set to PMID: 38693247\nPhenotypes for gene: DCC were set to Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600\nReview for gene: DCC was set to RED\nAdded comment: 1 individual reported with mono-allelic stopgain in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:09:35.447837+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CUL3 was added\ngene: CUL3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL3 were set to PMID: 38693247\nPhenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496\nReview for gene: CUL3 was set to AMBER\nAdded comment: 1 individual reported with mono-allelic splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:09:12.587389+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAPGEF2 as ready",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:09:12.575532+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapgef2 has been removed from the panel.",
"entity_name": "RAPGEF2",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:06:10.060280+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Neurodevelopmental disorder with spastic diplegia and visual defects, MIM#615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2024-05-27T15:04:30.174997+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CTCF was added\ngene: CTCF was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTCF were set to PMID: 38693247\nPhenotypes for gene: CTCF were set to Intellectual developmental disorder, autosomal dominant 21, MIM#615502\nReview for gene: CTCF was set to RED\nAdded comment: 1 individual reported with mono-allelic stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "CTCF",
"entity_type": "gene"
}
]
}