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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1895",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1893",
"results": [
{
"created": "2020-03-23T14:39:25.857673+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Green List (High Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:39:22.254324+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PEX10 as Green List (high evidence)",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:39:22.241222+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Green List (High Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:39:12.133383+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 27230853, 20695019; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870, Peroxisome biogenesis disorder 6B MIM#614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:29:46.914723+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.33",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: 30461124, 24139536, 20236121, 15833426; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5; Mode of inheritance: None",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:14:23.372444+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:PDK3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-23T14:00:37.861602+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ASCC1 as ready",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:00:37.852960+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ascc1 has been classified as Green List (High Evidence).",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:00:30.003326+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ASCC1 as Green List (high evidence)",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:00:29.993628+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ascc1 has been classified as Green List (High Evidence).",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:00:01.916539+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ASCC1: Added comment: >3 cases/families reported with a complex neuropathy phenotype. Onset of disease is prenatal and death occurs in the first days or months of life.; Changed rating: GREEN; Changed publications: 31880396, 30327447, 26924529; Changed phenotypes: Spinal muscular atrophy with congenital bone fractures 2 MIM#616867, dHMN/dSMA; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:54:09.600435+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DEGS1 as ready",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:54:09.591630+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: degs1 has been classified as Green List (High Evidence).",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:54:02.353774+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DEGS1 as Green List (high evidence)",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:54:02.347322+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Complex phenotype including neuropathy",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:54:02.300735+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: degs1 has been classified as Green List (High Evidence).",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:53:23.939750+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:45:39.722117+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DEGS1 was added\ngene: DEGS1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert list\nMode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal\nReview for gene: DEGS1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:19:51.471090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1824",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ZFP42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "ZFP42",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:18:13.924830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A21 as ready",
"entity_name": "SLC25A21",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:18:13.915964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a21 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A21",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:17:36.544511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A21 as Amber List (moderate evidence)",
"entity_name": "SLC25A21",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:17:36.536174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a21 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A21",
"entity_type": "gene"
},
{
"created": "2020-03-23T13:14:55.539689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1823",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HTR3C: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19035560, 18681779; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "HTR3C",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:40:05.371582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A21 was added\ngene: SLC25A21 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: SLC25A21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A21 were set to 29517768\nPhenotypes for gene: SLC25A21 were set to Mitochondrial DNA depletion syndrome-18, MIM#618811\nReview for gene: SLC25A21 was set to AMBER\nAdded comment: One case with a homozygous variant and functional assays showing mitochondrial dysfunction. \nSources: NHS GMS",
"entity_name": "SLC25A21",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:33:37.165498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A10 as ready",
"entity_name": "SLC25A10",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:33:37.157001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A10",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:33:27.640541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A10 as Amber List (moderate evidence)",
"entity_name": "SLC25A10",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:33:27.627379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A10",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:33:08.699320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A10 was added\ngene: SLC25A10 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: SLC25A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A10 were set to 29211846\nPhenotypes for gene: SLC25A10 were set to Intractable epileptic encephalopathy\nReview for gene: SLC25A10 was set to AMBER\nAdded comment: One case with intractable epileptic encephalopathy with complex I deficiency, with biallelic variants. Yeast SLC25A10 ortholog lack-of-function causes impairment in mitochondrial respiration, reduced mtDNA copy number and oxidative stress vulnerability. \nSources: NHS GMS",
"entity_name": "SLC25A10",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:31:35.357282+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QARS as ready",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:31:35.344178+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qars has been classified as Green List (High Evidence).",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:17:53.916260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QARS were changed from to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:17:21.062909+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QARS were set to ",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:16:46.833249+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:16:13.572992+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28620870, 25471517, 25432320, 25041233, 24656866, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:15:30.761753+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QARS as ready",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:15:30.752731+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qars has been classified as Green List (High Evidence).",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:15:26.957220+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QARS were changed from to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:15:03.935912+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QARS were set to ",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:14:09.528044+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:13:38.806297+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28620870, 25471517, 25432320, 25041233, 24656866, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:12:30.792659+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QARS as ready",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:12:30.783970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qars has been classified as Green List (High Evidence).",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:06:35.577692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QARS were changed from to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:06:20.099243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QARS were set to Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases.",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:05:48.880292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QARS were set to ",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:05:32.759897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:05:06.029130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28620870, 25471517, 25432320, 25041233, 24656866, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:02:00.160223+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QARS as ready",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:02:00.146759+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qars has been classified as Green List (High Evidence).",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:01:42.050760+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: QARS as Green List (high evidence)",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:01:42.042029+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qars has been classified as Green List (High Evidence).",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T12:01:11.362994+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: QARS was added\ngene: QARS was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: QARS were set to 28620870; 25471517; 25432320; 25041233; 24656866; 32042906\nPhenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760\nReview for gene: QARS was set to GREEN\nAdded comment: Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases. \nSources: NHS GMS",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:50:59.294481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCD3 as ready",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:50:59.286034+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:50:48.122231+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCD3 as Amber List (moderate evidence)",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:50:48.109204+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:50:29.492947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTCD3 was added\ngene: PTCD3 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTCD3 were set to 30607703; 19427859\nPhenotypes for gene: PTCD3 were set to Intellectual disability; optic atrophy; Leigh-like syndrome\nReview for gene: PTCD3 was set to AMBER\nAdded comment: One compound heterozygote case and functional assays. Essential subunit of oxidative phosphorylation (OXPHOS) complexes. \nSources: NHS GMS",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:45:52.413492+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTCD1 was added\ngene: PTCD1 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: PTCD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTCD1 were set to 25058219\nPhenotypes for gene: PTCD1 were set to Cardiomyopathy\nReview for gene: PTCD1 was set to RED\nAdded comment: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype. \nSources: NHS GMS",
"entity_name": "PTCD1",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:30:59.687709+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA4 as ready",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:30:59.679435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla4 has been classified as Red List (Low Evidence).",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:30:49.497274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPLA4 were set to ",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:30:30.344440+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPLA4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:30:11.850395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNPLA4 as Red List (low evidence)",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:30:11.837608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla4 has been classified as Red List (Low Evidence).",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:29:54.767070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PNPLA4: Changed rating: RED",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:29:39.572597+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPLA4 were set to ",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:29:14.304318+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPLA4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:28:54.482199+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNPLA4 as Red List (low evidence)",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:28:54.473763+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla4 has been classified as Red List (Low Evidence).",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:28:26.294970+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PNPLA4: Changed rating: RED",
"entity_name": "PNPLA4",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:11:34.199673+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OXA1L as ready",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:11:34.191356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxa1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:11:20.912450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OXA1L as Amber List (moderate evidence)",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:11:20.903489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxa1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:11:02.586743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OXA1L was added\ngene: OXA1L was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXA1L were set to 30201738; 16435202\nPhenotypes for gene: OXA1L were set to Encephalopathy; hypotonia; developmental delay\nReview for gene: OXA1L was set to AMBER\nAdded comment: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines, Drosophila model, and yeast-based assays. Loss of function affects oxidative phosphorylation complexes IV and V. \nSources: NHS GMS",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:06:46.281111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSUN3 as ready",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:06:46.267901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsun3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:06:37.631110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSUN3 as Amber List (moderate evidence)",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:06:37.622566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsun3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:06:14.291976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSUN3 was added\ngene: NSUN3 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSUN3 were set to 27356879\nPhenotypes for gene: NSUN3 were set to combined mitochondrial respiratory chain complex deficiency\nReview for gene: NSUN3 was set to AMBER\nAdded comment: A single compound heterozygous case. Patient-derived fibroblasts exhibited severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. In vitro functional assays also conducted. \nSources: NHS GMS",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:48:38.132036+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CISD2 was added\ngene: CISD2 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CISD2 were set to 29237418; 28335035; 27459537; 26230298; 17846994\nPhenotypes for gene: CISD2 were set to Wolfram syndrome 2 MIM#604928\nReview for gene: CISD2 was set to GREEN\nAdded comment: At least 3 families and a mouse model. Culture of patient-derived fibroblasts in glucose-free galactose medium revealed a respiratory chain defect in complexes I and II, and a trend towards decreased ATP levels. \nSources: NHS GMS",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:45:57.476362+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.33",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: EPCAM: Rating: RED; Mode of pathogenicity: None; Publications: 30461124; Phenotypes: Congenital diarrhoea 5 with tufting enteropathy, Lynch syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:34:00.848536+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.33",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "gene: EED was added\ngene: EED was added to Cataract. Sources: Literature\nMode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EED were set to 25787343\nPhenotypes for gene: EED were set to Cohen-Gibson syndrome\nPenetrance for gene: EED were set to unknown\nReview for gene: EED was set to AMBER\nAdded comment: Cataract has been reported in a single proband with a heterozygous missense variant in EED (no functional studies performed) (PMID 25787343). Cataracts have not been reported in subsequent probands (PMID 27193220 ; 27868325 ; 28229514 ; 29410511 ; 30858506). \nSources: Literature",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:31:40.790987+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COX4I1 was added\ngene: COX4I1 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX4I1 were set to 28766551\nPhenotypes for gene: COX4I1 were set to short stature; mild dysmorphic features; Fanconi anemia\nReview for gene: COX4I1 was set to RED\nAdded comment: Single family with a homozygous variant, with assays in patient fibroblasts only. \nSources: NHS GMS",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:29:54.478863+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NNT as ready",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:29:54.469422+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nnt has been classified as Amber List (Moderate Evidence).",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:29:49.194604+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NNT as Amber List (moderate evidence)",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:29:49.185650+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nnt has been classified as Amber List (Moderate Evidence).",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:29:19.450598+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NNT: Rating: AMBER; Mode of pathogenicity: None; Publications: 25778941; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:27:47.453921+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COX5A was added\ngene: COX5A was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX5A were set to 28247525\nPhenotypes for gene: COX5A were set to pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency\nReview for gene: COX5A was set to RED\nAdded comment: Single family with a homozygous variant, with assays conducted in patient fibroblasts only. \nSources: NHS GMS",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:22:20.383023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFB10 as ready",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:22:20.374867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:22:06.720412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFB10 as Amber List (moderate evidence)",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:22:06.707663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:21:46.720707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFB10 was added\ngene: NDUFB10 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFB10 were set to 28040730; 32025618\nPhenotypes for gene: NDUFB10 were set to fatal infantile lactic acidosis; cardiomyopathy\nReview for gene: NDUFB10 was set to AMBER\nAdded comment: Single compound heterozygote case and mitochondrial phenotype. Assays of respiratory chain enzyme activities and functions in patient tissues/fibroblasts and in vitro functional assays. Plant model system supporting mitochondrial complex I dysfunction. \nSources: NHS GMS",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:16:27.409437+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.33",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: 18060736; Phenotypes: Hyper-IgE recurrent infection syndrome 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:07:40.959745+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.33",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: DCLRE1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Omenn syndrome 603554, Severe combined immunodeficiency, Athabascan type 602450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2020-03-23T10:02:36.879656+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.33",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: CYBB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease, immunodeficiency 34 with mycobacteriosis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CYBB",
"entity_type": "gene"
}
]
}