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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1483",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1481",
"results": [
{
"created": "2020-12-07T19:18:33.883539+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap45 has been classified as Green List (High Evidence).",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:06:26.826418+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP45 as Green List (high evidence)",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:06:26.818074+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap45 has been classified as Green List (High Evidence).",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:05:34.624188+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP45 was added\ngene: CFAP45 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP45 were set to 33139725\nPhenotypes for gene: CFAP45 were set to Situs inversus; asthenospermia\nReview for gene: CFAP45 was set to GREEN\nAdded comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype. \nSources: Literature",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:56:32.530764+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAAM2 as ready",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:56:32.518828+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daam2 has been classified as Green List (High Evidence).",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:54:17.077612+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAAM2 as ready",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:54:17.069791+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daam2 has been classified as Green List (High Evidence).",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:53:59.867539+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAAM2 as Green List (high evidence)",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:53:59.859345+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daam2 has been classified as Green List (High Evidence).",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:53:04.343044+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICRA as ready",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:53:04.332959+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicra has been classified as Green List (High Evidence).",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:52:59.978205+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BICRA as Green List (high evidence)",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:52:59.967686+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicra has been classified as Green List (High Evidence).",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:51:26.790804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RLIM were set to 29728705; 25735484; 25644381",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:50:56.962175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RLIM was changed from to Other",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:50:23.595334+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 14 males from 9 families reported with duplications involving RLIM gene, suggesting dosage effect.; to: 14 males from 9 families reported with duplications involving RLIM gene and intellectual disability, suggesting dosage effect.",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:50:04.003642+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RLIM: Added comment: 14 males from 9 families reported with duplications involving RLIM gene, suggesting dosage effect.; Changed mode of pathogenicity: Other; Changed publications: 29728705, 25735484, 25644381, 33159883",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:47:27.151881+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS4A as ready",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:47:27.134943+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps4a has been classified as Green List (High Evidence).",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:47:22.424772+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS4A as Green List (high evidence)",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:47:22.416308+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps4a has been classified as Green List (High Evidence).",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:47:14.840566+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS4A was added\ngene: VPS4A was added to Rare anaemia_GEL. Sources: Literature\nMode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VPS4A were set to 33186543; 33186545\nPhenotypes for gene: VPS4A were set to syndromic congenital dyserythropoietic anaemia\nMode of pathogenicity for gene: VPS4A was set to Other\nReview for gene: VPS4A was set to GREEN\nAdded comment: 6 of 9 reported individuals had anaemia as part of a syndromic neurodevelopmental disorder. \nSources: Literature",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:41:46.155653+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN6 as ready",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:41:46.148126+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn6 has been classified as Green List (High Evidence).",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:41:40.473304+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN6 as Green List (high evidence)",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:41:40.462446+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn6 has been classified as Green List (High Evidence).",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:41:00.362214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN6 was added\ngene: CLCN6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLCN6 were set to 33217309\nPhenotypes for gene: CLCN6 were set to Developmental delay; neurodegeneration\nReview for gene: CLCN6 was set to GREEN\nAdded comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans. \nSources: Literature",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:40:28.599309+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN6 as ready",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:40:28.591334+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn6 has been classified as Green List (High Evidence).",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:39:43.088679+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN6 as Green List (high evidence)",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:39:43.080872+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn6 has been classified as Green List (High Evidence).",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:39:07.197022+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN6 was added\ngene: CLCN6 was added to Regression. Sources: Literature\nMode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLCN6 were set to 33217309\nPhenotypes for gene: CLCN6 were set to Neurodegeneration with brain iron accumulation 5, MIM#\t300894\nReview for gene: CLCN6 was set to GREEN\nAdded comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans. \nSources: Literature",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:37:50.117942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:35:33.191269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN6 as Green List (high evidence)",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:35:33.181062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn6 has been classified as Green List (High Evidence).",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:35:15.417746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLCN6: Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.; Changed rating: GREEN; Changed publications: 25794116, 21107136, 33217309; Changed phenotypes: Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:34:56.364874+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN6 were set to 25794116; 21107136; 33217309",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:34:35.443284+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN6 were set to 25794116; 21107136",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:34:15.476335+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CLCN6 was changed from to Other",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:33:49.290555+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:33:07.784483+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN6 as Green List (high evidence)",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:33:07.776410+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn6 has been classified as Green List (High Evidence).",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:32:33.790638+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLCN6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:32:16.857354+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLCN6: Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications: 25794116, 21107136, 33217309; Changed phenotypes: Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL",
"entity_name": "CLCN6",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:29:43.987326+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HS2ST1 as Amber List (moderate evidence)",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:29:43.980188+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs2st1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:27:10.449786+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HS2ST1 was added\ngene: HS2ST1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HS2ST1 were set to 33159882\nPhenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis\nReview for gene: HS2ST1 was set to AMBER\nAdded comment: 4 affected individuals from three unrelated families. Three of the individuals (two families) had arthrogryposis. \nSources: Literature",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:19:30.304742+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HS2ST1 were changed from to Intellectual disability; dysmorphic features; congenital anomalies",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:17:12.035472+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM4B as ready",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:17:12.024534+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm4b has been classified as Green List (High Evidence).",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:17:02.879594+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM4B as Green List (high evidence)",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:17:02.868733+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm4b has been classified as Green List (High Evidence).",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:16:24.395436+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM4B as ready",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:16:24.387471+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm4b has been classified as Green List (High Evidence).",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:16:19.068172+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM4B as Green List (high evidence)",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:16:19.058144+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm4b has been classified as Green List (High Evidence).",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:14:02.825128+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMG8 were set to 31130284",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:13:05.285720+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMG8 as Green List (high evidence)",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-07T18:13:05.274951+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg8 has been classified as Green List (High Evidence).",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:33:35.106127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF6 were changed from Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898 to Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898; CAKUT",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:32:58.456999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF6 as ready",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:32:58.446482+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf6 has been classified as Green List (High Evidence).",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:29:09.494133+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.131",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified Region: ISCA-37433-Loss as Green List (high evidence)",
"entity_name": "ISCA-37433-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T17:29:09.483155+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.131",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: isca-37433-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37433-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T17:25:10.098392+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF6 as ready",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:25:10.069339+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf6 has been classified as Green List (High Evidence).",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:25:06.089878+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDF6 as Green List (high evidence)",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:25:06.079257+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf6 has been classified as Green List (High Evidence).",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:24:36.272139+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF6 was added\ngene: GDF6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GDF6 were set to 32737436\nPhenotypes for gene: GDF6 were set to Syndromic CAKUT\nReview for gene: GDF6 was set to GREEN\nAdded comment: Three individuals (three families) with kidney hypodysplasia and extrarenal manifestations, two of them additionally manifesting skeletal, ocular, or auricular abnormalities. Two with same variant c.746C>A p.(Ala249Glu) and the third with c.112G>C p.(Gly38Arg). \"CRISPR/Cas9-derived knockout of Gdf6 attenuated migration of murine IMCD3 cells, an effect rescued by expression of wild-type but not mutant GDF6, indicating affected variant function regarding a fundamental developmental process. Knockdown of gdf6 in Xenopus laevis resulted in impaired pronephros development.\" \nSources: Literature",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:24:25.795408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF6 were changed from to Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:23:19.498856+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3252",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: HS2ST1 was changed from None to None",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:23:06.114812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF6 were set to 18425797; 19129173; 32737436",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:22:42.341944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3252",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: HS2ST1 as Green List (high evidence)",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:22:42.321946+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3252",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: hs2st1 has been classified as Green List (High Evidence).",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:22:29.464765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF6 were set to ",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:21:57.512655+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3251",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: HS2ST1 as ready",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:21:57.506791+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3251",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: - 4 affected from 3 unrelated families - 3 unique missense and 2 PTCs - Developmental Delay, Corpus Callosum Hypoplasia or Aplasia, and Skeletal and Renal Abnormalities",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:21:57.351904+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3251",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: hs2st1 has been removed from the panel.",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:21:42.422001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:21:21.261827+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: None; Publications: 18425797, 19129173; Phenotypes: Klippel-Feil syndrome 1, autosomal dominant 118100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:17:20.682217+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPAMD8 as ready",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:17:20.671741+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpamd8 has been classified as Green List (High Evidence).",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:17:18.403684+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:13:36.441265+11:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX6 as ready",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:13:36.432804+11:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Red List (Low Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:13:28.245807+11:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX6 was added\ngene: PEX6 was added to Amenorrhoea. Sources: Literature\nMode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX6 were set to 32399598\nPhenotypes for gene: PEX6 were set to Perrault syndrome\nReview for gene: PEX6 was set to RED\nAdded comment: Well established gene-disease association for peroxisomal disorders, including milder end of the spectrum (Heimler syndrome). Single case report of Perrault syndrome as presenting phenotype. \nSources: Literature",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:12:16.647345+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPAMD8 were set to 32274568",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-12-07T17:02:45.768324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5567",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32737436; Phenotypes: Klippel-Feil syndrome 1, autosomal dominant 118100, Leber congenital amaurosis 17 615360, Microphthalmia with coloboma 6, digenic 613703, Microphthalmia, isolated 4 613094, Multiple synostoses syndrome 4 617898; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:55:01.289733+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NDRG1 as ready",
"entity_name": "NDRG1",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:55:01.231493+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ndrg1 has been classified as Green List (High Evidence).",
"entity_name": "NDRG1",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:53:30.204460+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: NDRG1 were changed from to Charcot-Marie-Tooth disease, type 4D MIM#601455; Syndromic auditory neuropathy spectrum disorder; Hereditary motor and sensory neuropathy Lom",
"entity_name": "NDRG1",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:52:19.348309+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NDRG1 were set to ",
"entity_name": "NDRG1",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:51:41.981696+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC52A3 as ready",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:51:41.963358+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc52a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:51:38.335635+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NDRG1 as Green List (high evidence)",
"entity_name": "NDRG1",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:51:38.325049+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ndrg1 has been classified as Green List (High Evidence).",
"entity_name": "NDRG1",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:51:01.321644+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SLC52A3 were set to ",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:50:45.159208+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TRPV4 as ready",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2020-12-07T16:50:45.143854+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trpv4 has been classified as Green List (High Evidence).",
"entity_name": "TRPV4",
"entity_type": "gene"
}
]
}