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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=344",
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"results": [
{
"created": "2024-11-15T16:41:31.269243+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTX2 were set to ",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:40:10.736852+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:38:52.573982+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPA3 as ready",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:38:52.553943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Green List (High Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:38:47.661787+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:37:57.229061+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPA3 were set to 25159689; 31119193; 31928268",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:37:16.155073+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPA3 were set to ",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:36:27.881867+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPA3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:35:41.909622+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:34:20.916140+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OCLN as ready",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:34:20.904796+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ocln has been classified as Green List (High Evidence).",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:33:27.153462+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1, MIM#251290",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:32:21.724620+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OCLN were set to ",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:31:32.111643+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OCLN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:30:38.042324+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRAS as ready",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:30:38.023428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nras has been classified as Green List (High Evidence).",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:30:28.093701+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NRAS were changed from to Noonan syndrome 6, MIM# 613224",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:23:05.337716+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NRAS were set to ",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:22:08.628288+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: NRAS was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:21:33.252760+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: NRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:19:19.035035+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:18:26.988185+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP1 as ready",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:18:26.958188+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp1 has been classified as Green List (High Evidence).",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:18:11.331012+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:17:28.925578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHP1 were set to 15138899; 32139166; 28347285; 8852662; 9856524",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:16:44.663410+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHP1 were set to ",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:15:30.066457+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:14:18.105565+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NF1 as ready",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:14:18.089338+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:14:09.592175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1 (MIM#162200)",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:13:31.690011+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NF1 were set to 23931823; 10762507",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:12:56.189803+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NF1 were set to ",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:12:04.142095+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:11:12.952742+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS8 as ready",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:11:12.940493+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs8 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:11:03.980743+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS8 were changed from Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:10:33.704460+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:09:53.672243+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS8 were set to 23430795; 9837812; 15159508; 22499348; 20818383; 20819849",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:06:48.088139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS8 were set to 23430795; 9837812; 15159508; 22499348; 20818383; 20819849",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:03:25.078097+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS8 were set to ",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:02:18.708134+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:01:32.895440+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:00:50.537104+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS4 were changed from Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010 to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:00:24.944631+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS4 as ready",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:00:24.930190+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs4 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:59:59.175304+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:58:46.688131+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS4 were set to ",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:57:56.082751+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:57:14.618172+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:55:55.951841+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NACC1 as ready",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:55:55.931159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nacc1 has been classified as Green List (High Evidence).",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:55:26.021072+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYCN as ready",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:55:25.998181+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycn has been classified as Green List (High Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:55:15.834227+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from to Feingold syndrome 1 MIM#164280; Megalencephaly-polydactyly syndrome, MIM#\t620748",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:53:56.206257+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Feingold syndrome 1 MIM#164280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:52:55.905801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYCN were set to ",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:52:19.658817+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:50:45.526333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12L were changed from Intellectual disability; Seizures; Autism to Neurodevelopmental disorder, MONDO:0700092, MED12L-related; Intellectual disability; Seizures; Autism",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:50:23.055851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MED12L: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, MED12L-related, Intellectual disability, Seizures, Autism",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:50:03.292870+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12L as ready",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:50:03.280450+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12l has been classified as Green List (High Evidence).",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:49:58.009031+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12L were changed from Intellectual disability; Seizures; Autism to Neurodevelopmental disorder, MONDO:0700092, MED12L-related; Intellectual disability; Seizures; Autism",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:47:37.201632+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS2 as ready",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:47:37.184133+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Green List (High Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:47:30.124197+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARS2 were changed from to Perrault syndrome 4, MIM# 615300; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:46:44.313379+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LARS2 were set to ",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:45:46.191513+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:44:51.695086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARGE1 as ready",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:44:51.679753+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: large1 has been classified as Green List (High Evidence).",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:44:43.893064+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:43:53.980405+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LARGE1 were set to ",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:42:58.878224+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:42:05.361992+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMP2 as ready",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:42:05.349815+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Green List (High Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:41:59.971704+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMP2 were changed from Danon disease, MIM# 300257; MONDO:0010281 to Danon disease, MIM# 300257; MONDO:0010281",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:41:24.019355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM# 300257; MONDO:0010281",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:40:34.470273+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMP2 were set to ",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:39:50.573530+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMP2 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": "LAMP2",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:38:55.268288+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRAS as ready",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:38:55.258554+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kras has been classified as Green List (High Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:38:50.535470+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRAS were changed from to Noonan syndrome 3, MIM# 609942; Cardiofaciocutaneous syndrome 2, MIM# 615278",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:37:36.074767+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRAS were set to ",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:36:30.302563+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:35:48.762765+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:33:55.999815+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2E as ready",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:33:55.985854+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2e has been classified as Green List (High Evidence).",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:33:20.668890+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2E were changed from to O'Donnell-Luria-Rodan syndrome, MIM# 618512; Intellectual disability; Autism; Seizures",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:32:43.431311+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2E were set to ",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:32:01.952768+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:30:50.688428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6B as ready",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:30:50.659142+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Green List (High Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:30:43.052846+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT6B were changed from KAT6B-related multiple congenital anomalies syndrome MONDO:0036042 to KAT6B-related multiple congenital anomalies syndrome MONDO:0036042",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:30:04.645508+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT6B were changed from to KAT6B-related multiple congenital anomalies syndrome MONDO:0036042",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:29:06.614572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KAT6B were set to ",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:27:48.483955+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KAT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:26:44.403524+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6A as ready",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:26:44.392690+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6a has been classified as Green List (High Evidence).",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:26:40.417271+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT6A were changed from to syndromic intellectual disability MONDO:0000508",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:25:57.988483+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KAT6A were set to ",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-11-15T15:24:55.894074+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KAT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6A",
"entity_type": "gene"
}
]
}