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"count": 220212,
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{
"created": "2022-04-27T09:28:21.584922+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1572",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNNM2 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": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:27:52.268963+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4703",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CNNM2 were set to ",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:27:52.248874+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1571",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CNNM2 were changed from to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:26:37.084090+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4703",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNNM2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:26:37.069681+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1571",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CNNM2 were set to ",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:26:15.729414+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4703",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CNNM2 were changed from to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:25:58.738630+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1571",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNNM2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:25:53.942835+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1570",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CNNM2 as ready",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:25:53.904682+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1570",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cnnm2 has been classified as Green List (High Evidence).",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:25:53.603556+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1570",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CNNM2 as ready",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:25:53.590974+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1570",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cnnm2 has been classified as Green List (High Evidence).",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:25:08.744281+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1570",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34604137, 35170241; Phenotypes: Hypomagnesemia 6, renal MIM#613882, Hypomagnesemia, seizures, and mental retardation MIM#616418; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:25:06.858945+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4702",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34604137, 35170241; Phenotypes: Hypomagnesemia 6, renal MIM#613882, Hypomagnesemia, seizures, and mental retardation MIM#616418; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:15:38.371903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13384",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CNNM2 as ready",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:15:38.359738+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13384",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cnnm2 has been classified as Green List (High Evidence).",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:15:22.155659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13384",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CNNM2 were changed from to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:15:15.368298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13383",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CNNM2 were set to ",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:15:11.397449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13383",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNNM2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:14:55.597568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13382",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34604137, 35170241; Phenotypes: Hypomagnesemia 6, renal MIM#613882, Hypomagnesemia, seizures, and mental retardation MIM#616418; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:11:08.839783+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGC as ready",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:11:08.822384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigc has been classified as Green List (High Evidence).",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:09:11.711564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGC were changed from to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:09:10.297251+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGC were set to 27694521",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:08:31.964216+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGC: Added comment: Third family reported, pair of siblings, DD/seizures.; Changed publications: 27694521, 32707268",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:08:17.331445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGC were set to ",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:07:56.168336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:07:37.427408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694521, 32707268; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:06:38.807282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13379",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CNGB1 as ready",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:06:38.792094+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13379",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cngb1 has been classified as Green List (High Evidence).",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:06:31.710932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13379",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CNGB1 were changed from to Retinitis pigmentosa 45 MIM#613767",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:06:29.088045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13378",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CNGB1 were set to ",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:06:22.434941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13378",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNGB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:06:06.608329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13377",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CNGB1: Changed rating: GREEN",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:05:58.414257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13377",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CNGB1: Rating: ; Mode of pathogenicity: None; Publications: 11379879, 15557452, 23661369, 33847019; Phenotypes: Retinitis pigmentosa 45 MIM#613767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:02:25.698548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13377",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CNGA1 as ready",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:02:25.687919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13377",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cnga1 has been classified as Green List (High Evidence).",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:01:31.792294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13377",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CNGA1 were changed from to Retinitis pigmentosa 49 MIM#613756",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:01:28.460872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13376",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CNGA1 were set to ",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:01:22.165474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13376",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNGA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:01:05.331905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13375",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CNGA1: Changed publications: 33633220, 32705276, 30652268, 20301590, 7479749",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-27T09:00:56.617189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13375",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633220, 32705276, 30652268, 20301590, 7479749]; Phenotypes: Retinitis pigmentosa 49 MIM#613756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:53:44.964435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13375",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLN8 as ready",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:53:44.946917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13375",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Green List (High Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:53:30.316190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13375",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CLN8 were set to ",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:53:25.579719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13375",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:53:19.344336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13375",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:52:55.540208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13374",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508524, 15024724, 16570191; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:52:10.077634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13374",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLN6 as ready",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:52:10.066871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13374",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:52:02.824983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13374",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:50:43.418831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13373",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CLN6 were set to ",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:50:38.129983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13373",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLN6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:50:20.310035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13372",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11791207, 11727201, 21549341, 30561534; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:41:46.101871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13372",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLEC7A as ready",
"entity_name": "CLEC7A",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:41:46.091802+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13372",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: clec7a has been classified as Red List (Low Evidence).",
"entity_name": "CLEC7A",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:41:39.112999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13372",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CLEC7A were changed from to {Aspergillosis, susceptibility to} MIM#614079; candidiasis, familial, 4, autosomal recessive MIM#613108",
"entity_name": "CLEC7A",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:41:28.819639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13371",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CLEC7A were set to ",
"entity_name": "CLEC7A",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:41:20.676462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13371",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CLEC7A as Red List (low evidence)",
"entity_name": "CLEC7A",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:41:20.666344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13371",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: clec7a has been classified as Red List (Low Evidence).",
"entity_name": "CLEC7A",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:40:50.367889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13370",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CLEC7A: Changed publications: 19864674, 20807886; Changed phenotypes: {Aspergillosis, susceptibility to} MIM#614079, candidiasis, familial, 4, autosomal recessive MIM#613108; Set current diagnostic: yes",
"entity_name": "CLEC7A",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:40:20.397193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13370",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Unable to find any mendelian disease association; to: Unable to find any mendelian disease association.\r\n\r\nReports of Tyr238* and it's association with \t{Aspergillosis, susceptibility to}\tMIM#614079 leading to candidiasis, familial, 4, autosomal recessive\tMIM#613108\t",
"entity_name": "CLEC7A",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:34:52.019003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13370",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CLEC7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CLEC7A",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:32:38.441266+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGW as ready",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:32:38.427708+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigw has been classified as Green List (High Evidence).",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:32:33.490257+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGW were changed from to Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:31:57.342700+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGW were set to ",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:31:21.643749+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGW was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:30:42.540063+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:30:04.233655+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGW as ready",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:30:04.216388+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigw has been classified as Green List (High Evidence).",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:30:00.124680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGW were changed from to Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:29:28.847898+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGW were set to ",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:28:47.923465+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGW was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:28:13.206981+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:27:20.620452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGW as ready",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:27:20.599043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigw has been classified as Green List (High Evidence).",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:27:12.279331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGW were changed from to Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:26:51.303260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGW were set to ",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:26:31.695155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGW was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-27T08:26:06.377158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:45:02.407999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R2 as ready",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:45:02.392152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r2 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:44:53.421465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:44:32.128958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3R2 were set to ",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:44:11.786437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3R2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:43:52.670745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22729224, 23745724, 33604570; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:39:56.818775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITX2 as ready",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:39:56.802217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx2 has been classified as Green List (High Evidence).",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:39:47.389001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX2 were changed from to Anterior segment dysgenesis 4, MIM# 137600; Axenfeld-Rieger syndrome, type 1, MIM# 180500",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:39:26.964511+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PITX2 were set to ",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:39:04.557962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:38:44.799070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32400113, 31341655, 31185933, 30457409; Phenotypes: Anterior segment dysgenesis 4, MIM# 137600, Axenfeld-Rieger syndrome, type 1, MIM# 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:37:26.038215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITX3 as ready",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:37:26.028420+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx3 has been classified as Green List (High Evidence).",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:37:17.436809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX3 were changed from Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia MONDO:0021129",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:36:24.422423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:36:03.705429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PITX3 were set to ",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:35:41.435090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:35:22.320471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29405783; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250, Cataract 11, multiple types, MIM# 610623, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-04-26T20:31:50.188074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement, MIM#248190 to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190",
"entity_name": "CLDN19",
"entity_type": "gene"
}
]
}