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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1994",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1992",
"results": [
{
"created": "2020-01-10T10:24:16.728987+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1533",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: STAG2 was added\ngene: STAG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: STAG2 were set to 30765867; 28296084; 30447054; 29263825; 30158690\nAdded comment: 12 unrelated families reported both males and females affected (OMIM). \nSources: Expert list",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:18:05.844113+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PLA2G5 as ready",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:18:05.836782+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pla2g5 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:18:02.528960+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PLA2G5 as Green List (high evidence)",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:18:02.525285+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Have features of RP",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:18:02.496364+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pla2g5 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:12:39.395350+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OAT as ready",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:12:39.388640+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:12:35.905189+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OAT as Green List (high evidence)",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:12:35.902198+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Can have features of RP",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:12:35.876405+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH",
"panel_id": 277,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:11:45.742326+11:00",
"panel_name": "Cerebellar and Pontocerebellar hypoplasia_VCGS",
"panel_id": 72,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:11:36.545351+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP1 were changed from Mental retardation with language impairment and with or without autistic features, MIM# 613670 to Mental retardation with language impairment and with or without autistic features, MIM# 613670",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:11:29.344015+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP1 as ready",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:11:29.335814+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp1 has been classified as Green List (High Evidence).",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:11:16.036784+11:00",
"panel_name": "Cerebellar and Pontocerebellar hypoplasia_VCGS",
"panel_id": 72,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP1 were set to ",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:10:59.869315+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:10:40.201301+11:00",
"panel_name": "Cerebellar and Pontocerebellar hypoplasia_VCGS",
"panel_id": 72,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:10:16.018236+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP1 were set to ",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:09:55.865656+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF3 as ready",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:09:55.077036+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:09:49.972891+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:09:40.862271+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF3 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:09:22.778495+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:08:54.516881+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26633542, 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features, MIM# 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:07:34.106724+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP1 as ready",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:07:34.090076+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp1 has been classified as Green List (High Evidence).",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:07:33.812803+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF3 were set to ",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:07:21.150363+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:07:08.026488+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP1 were set to ",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:06:55.634180+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:05:14.502960+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:04:49.488925+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF3 as Amber List (moderate evidence)",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:04:49.481559+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:04:32.216122+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26513235; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:56:38.278367+11:00",
"panel_name": "Susceptibility to viral infections_MelbourneGenomics_VCGS",
"panel_id": 237,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF3 as ready",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:56:38.271037+11:00",
"panel_name": "Susceptibility to viral infections_MelbourneGenomics_VCGS",
"panel_id": 237,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:56:34.399920+11:00",
"panel_name": "Susceptibility to viral infections_MelbourneGenomics_VCGS",
"panel_id": 237,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF3 as Amber List (moderate evidence)",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:56:34.393326+11:00",
"panel_name": "Susceptibility to viral infections_MelbourneGenomics_VCGS",
"panel_id": 237,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:55:24.592132+11:00",
"panel_name": "Susceptibility to viral infections_MelbourneGenomics_VCGS",
"panel_id": 237,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRF3 was added\ngene: IRF3 was added to Susceptibility to viral infections_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: IRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IRF3 were set to 26216125; 20660188; 26513235\nPhenotypes for gene: IRF3 were set to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM#\t616532\nPenetrance for gene: IRF3 were set to Incomplete\nReview for gene: IRF3 was set to AMBER\nAdded comment: Two affected individuals reported, reduced penetrance, mouse model. \nSources: Expert list",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:50:44.809008+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MESD as ready",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:50:44.802078+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesd has been classified as Green List (High Evidence).",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:50:35.713045+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MESD as Green List (high evidence)",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:50:35.706117+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesd has been classified as Green List (High Evidence).",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:50:18.976424+11:00",
"panel_name": "Skeletal dysplasia Fetal_MelbourneGenomics_VCGS",
"panel_id": 28,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MESD as ready",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:50:18.968992+11:00",
"panel_name": "Skeletal dysplasia Fetal_MelbourneGenomics_VCGS",
"panel_id": 28,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesd has been classified as Green List (High Evidence).",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:50:12.894388+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MESD was added\ngene: MESD was added to Mendeliome_VCGS. Sources: Other\nMode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MESD were set to 31564437\nPhenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM#\t618644\nReview for gene: MESD was set to GREEN\nAdded comment: Five families reported. \nSources: Other",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:48:24.588138+11:00",
"panel_name": "Skeletal dysplasia Fetal_MelbourneGenomics_VCGS",
"panel_id": 28,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MESD as Green List (high evidence)",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:48:24.580907+11:00",
"panel_name": "Skeletal dysplasia Fetal_MelbourneGenomics_VCGS",
"panel_id": 28,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesd has been classified as Green List (High Evidence).",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:47:57.713212+11:00",
"panel_name": "Skeletal dysplasia Fetal_MelbourneGenomics_VCGS",
"panel_id": 28,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MESD was added\ngene: MESD was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Other\nMode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MESD were set to 31564437\nPhenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM#\t618644\nReview for gene: MESD was set to GREEN\nAdded comment: Five unrelated families reported. \nSources: Other",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:47:54.695049+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MESD as Green List (high evidence)",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:47:54.686606+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesd has been classified as Green List (High Evidence).",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:47:41.522598+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MESD as ready",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:47:41.514320+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesd has been classified as Red List (Low Evidence).",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:46:20.177470+11:00",
"panel_name": "Osteogenesis imperfecta_VCGS",
"panel_id": 147,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MESD as ready",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:46:20.166161+11:00",
"panel_name": "Osteogenesis imperfecta_VCGS",
"panel_id": 147,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesd has been classified as Green List (High Evidence).",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:46:15.531683+11:00",
"panel_name": "Osteogenesis imperfecta_VCGS",
"panel_id": 147,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MESD as Green List (high evidence)",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:46:15.524489+11:00",
"panel_name": "Osteogenesis imperfecta_VCGS",
"panel_id": 147,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesd has been classified as Green List (High Evidence).",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:45:36.499268+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MESD was added\ngene: MESD was added to Skeletal dysplasia. Sources: Other\nMode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MESD were set to 31564437\nPhenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM#\t618644\nReview for gene: MESD was set to GREEN\nAdded comment: Five unrelated families reported. \nSources: Other",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:44:33.522756+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1530",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26633542, PMID: 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:44:30.621813+11:00",
"panel_name": "Osteogenesis imperfecta_VCGS",
"panel_id": 147,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MESD was added\ngene: MESD was added to Osteogenesis imperfecta_VCGS. Sources: Other\nMode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MESD were set to 31564437\nPhenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM#\t618644\nReview for gene: MESD was set to GREEN\nAdded comment: Five unrelated families reported. \nSources: Other",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:40:32.035710+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:40:32.028277+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:40:08.298081+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from to 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD; 2. Brain small vessel disease with or without ocular anomalies, 175780, AD; 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD; 4. ?Retinal arteries, tortuosity of, 180000, AD; 5. {Hemorrhage, intracerebral, susceptibility to}, 614519",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:39:41.003924+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to ",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:39:14.623328+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:36:39.063415+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1530",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24360804, PMID: 30089828; Phenotypes: Neurodegeneration with brain iron accumulation 6 615643, Pontocerebellar hypoplasia, type 12 618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-01-10T09:31:34.097305+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.7",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23065703, PMID: 31719132; Phenotypes: 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD, 2. Brain small vessel disease with or without ocular anomalies, 175780, AD, 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD, 4. ?Retinal arteries, tortuosity of, 180000, AD, 5. {Hemorrhage, intracerebral, susceptibility to}, 614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:50:50.112909+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP214 as ready",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:50:50.106305+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup214 has been classified as Green List (High Evidence).",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:50:42.030267+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP214 as ready",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:50:42.026788+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Three unrelated families reported.",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:50:41.985843+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup214 has been classified as Green List (High Evidence).",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:50:10.232481+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP214 were set to 31178128",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:49:53.429776+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP214 as Green List (high evidence)",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:49:53.421799+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup214 has been classified as Green List (High Evidence).",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:49:42.688794+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP214 as ready",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:49:42.680890+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup214 has been classified as Green List (High Evidence).",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:49:34.704127+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP214 were set to 31178128",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:49:23.266998+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP214 was added\ngene: NUP214 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP214 were set to 31178128; 30758658\nPhenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly\nReview for gene: NUP214 was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Literature",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:47:11.893818+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:46:09.709437+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP214 as Green List (high evidence)",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:46:09.702436+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup214 has been classified as Green List (High Evidence).",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:20:29.577047+11:00",
"panel_name": "Muscular dystrophy_VCGS",
"panel_id": 141,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:20:29.570197+11:00",
"panel_name": "Muscular dystrophy_VCGS",
"panel_id": 141,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:20:25.887378+11:00",
"panel_name": "Muscular dystrophy_VCGS",
"panel_id": 141,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from to ?Retinal arteries, tortuosity of MIM#180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:18:54.339201+11:00",
"panel_name": "Muscular dystrophy_VCGS",
"panel_id": 141,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to ",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:18:28.880189+11:00",
"panel_name": "Muscular dystrophy_VCGS",
"panel_id": 141,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: COL4A1 was changed from to Other",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:18:13.859484+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EHHADH as ready",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:18:13.851230+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehhadh has been classified as Red List (Low Evidence).",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:18:02.158560+11:00",
"panel_name": "Muscular dystrophy_VCGS",
"panel_id": 141,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:16:44.201854+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHHADH were changed from to Fanconi renotubular syndrome 3; OMIM#615605",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:16:26.685742+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EHHADH were set to ",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:14:38.778916+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EHHADH as Red List (low evidence)",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:14:38.768713+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehhadh has been classified as Red List (Low Evidence).",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:14:18.029750+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EHHADH: Rating: RED; Mode of pathogenicity: None; Publications: 24401050; Phenotypes: Fanconi renotubular syndrome 3, OMIM#615605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:06:11.013536+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VTN as ready",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:06:11.010104+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Downgraded to Red after review against Genomics England panel.",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:06:10.991444+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vtn has been classified as Red List (Low Evidence).",
"entity_name": "VTN",
"entity_type": "gene"
},
{
"created": "2020-01-09T21:05:04.723545+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH",
"panel_id": 211,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VTN were changed from to Atypical haemolytic uraemic syndrome",
"entity_name": "VTN",
"entity_type": "gene"
}
]
}