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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1898",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1896",
"results": [
{
"created": "2020-03-20T17:53:45.740373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatc has been classified as Red List (Low Evidence).",
"entity_name": "GATC",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:53:35.800903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATC was added\ngene: GATC was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: GATC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GATC were set to 30283131\nPhenotypes for gene: GATC were set to Mitochondrial cardiomyopathy\nReview for gene: GATC was set to RED\nAdded comment: Two families with 6 affected individuals reported; same homozygous variant. \nSources: NHS GMS",
"entity_name": "GATC",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:52:02.883854+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATC as ready",
"entity_name": "GATC",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:52:02.874277+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatc has been classified as Red List (Low Evidence).",
"entity_name": "GATC",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:51:29.410487+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATC was added\ngene: GATC was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: GATC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GATC were set to 30283131\nPhenotypes for gene: GATC were set to Mitochondrial cardiomyopathy\nReview for gene: GATC was set to RED\nAdded comment: Two families with 6 affected individuals reported; same homozygous variant. \nSources: NHS GMS",
"entity_name": "GATC",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:48:19.996303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATB as ready",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:48:19.982669+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatb has been classified as Red List (Low Evidence).",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:48:10.232988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATB was added\ngene: GATB was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GATB were set to 30283131\nPhenotypes for gene: GATB were set to Mitochondrial cardiomyopathy\nReview for gene: GATB was set to RED\nAdded comment: Single family reported with two affected siblings \nSources: NHS GMS",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:47:29.077237+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATB as ready",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:47:29.068108+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatb has been classified as Red List (Low Evidence).",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:46:26.064614+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATB was added\ngene: GATB was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GATB were set to 30283131\nPhenotypes for gene: GATB were set to Mitochondrial cardiomyopathy\nReview for gene: GATB was set to RED\nAdded comment: Single family reported with two affected siblings. \nSources: NHS GMS",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:45:52.459771+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.234",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC25A10 as Amber List (moderate evidence)",
"entity_name": "SLC25A10",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:45:52.451262+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.234",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A10",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:45:09.903969+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.233",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A10 was added\ngene: SLC25A10 was added to Mitochondrial disease. 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": "2020-03-20T17:38:30.264773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1795",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:36:33.543549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1795",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29681087, 28657137, 23851939; Phenotypes: ?Otofaciocervical syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:31:54.634747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1795",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30072871, 30911184; Phenotypes: {Autism susceptibility 17}, Autism spectrum disorder with or without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:23:44.778997+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.232",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC25A21 as ready",
"entity_name": "SLC25A21",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:23:44.765067+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.232",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a21 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A21",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:23:30.746195+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.232",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC25A21 as Amber List (moderate evidence)",
"entity_name": "SLC25A21",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:23:30.736719+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.232",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a21 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A21",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:22:54.737982+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.231",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A21 was added\ngene: SLC25A21 was added to Mitochondrial disease. 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": "2020-03-20T17:04:45.586107+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.230",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC25A24 as ready",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:04:45.577292+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.230",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a24 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:04:32.620780+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.230",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC25A24 as Green List (high evidence)",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:04:32.611761+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.230",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a24 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:03:56.337137+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.229",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A24 was added\ngene: SLC25A24 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC25A24 were set to 29100094; 29100093\nPhenotypes for gene: SLC25A24 were set to Fontaine progeroid syndrome\tMIM#612289\nReview for gene: SLC25A24 was set to GREEN\nAdded comment: De novo heterozygous variants (R217H, R217C) were identified in 9 unrelated cases. Functional analysis demonstrated that the variants affect mitochondrial morphology, and also suggested an impact on oxidative phosphorylation via decreased ATP synthesis and an increase in the mitochondrial membrane potential, thus creating conditions that are inhospitable to cell proliferation. \nSources: NHS GMS",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:55:55.567606+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1795",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26763875; Phenotypes: Retinitis pigmentosa 71 616394, Short-rib thoracic dysplasia 10 with or without polydactyly - 615630, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:47:23.092312+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.228",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC39A8 as Amber List (moderate evidence)",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:47:23.086092+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.228",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There's currently one family with a Leigh-like mitochondrial phenotype and in vitro functional assay data.",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:47:23.056086+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.228",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc39a8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:44:35.974005+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A8 as ready",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:44:35.960804+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:44:28.683905+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC39A8 as Amber List (moderate evidence)",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:44:28.675138+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:40:54.117274+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD40LG as ready",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:40:54.103866+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd40lg has been classified as Red List (Low Evidence).",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:39:25.499129+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD40LG were changed from to Immunodeficiency with Hyper-IgM type 1",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:39:04.186091+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:38:45.019214+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD40LG as Red List (low evidence)",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:38:44.978732+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd40lg has been classified as Red List (Low Evidence).",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:38:05.739397+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3G as ready",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:38:05.729529+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3g has been classified as Red List (Low Evidence).",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:38:02.485173+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD3G were changed from to Immunodeficiency 17, CD3 gamma deficient",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:33:49.397921+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD3G were set to ",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:33:29.804809+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD3G as Red List (low evidence)",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:33:29.795889+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3g has been classified as Red List (Low Evidence).",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:29:21.353775+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: FECH.\nTag deep intronic tag was added to gene: FECH.",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:29:07.613894+11:00",
"panel_name": "Porphyria_RMH",
"panel_id": 3077,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20105171, 23016163; Phenotypes: Protoporphyria, erythropoietic, 1, MIM# 177000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:27:30.720365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FECH as ready",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:27:30.713978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Evidence for dominant disease is limited. Please note there is a common, hypomorphic deep intronic variant, IVS3-48T-C, as well as an exon 10 deletion reported.",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:27:30.646755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fech has been classified as Green List (High Evidence).",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:26:51.597099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: FECH.",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:24:46.417298+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.226",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC39A8 was added\ngene: SLC39A8 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A8 were set to 29453449; 27995398\nPhenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn\tMIM#616721\nReview for gene: SLC39A8 was set to AMBER\nAdded comment: Functional analyses of loss of function variants that have been identified in 3 CDG type II-associated cases and a Leigh-like syndrome mitochondrial disorder case resulted in mitochondrial dysfunction and oxidative stress. \nSources: NHS GMS",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:23:00.826679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1 177000 AR",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:22:48.083454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FECH were set to ",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:22:35.236049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FECH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:22:19.939267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: FECH.",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:21:50.567066+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AICDA as ready",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:21:50.558479+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aicda has been classified as Red List (Low Evidence).",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:21:47.834333+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AICDA were changed from to Immunodeficiency with hyper-IgM, type 2\t605258",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:21:11.797048+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AICDA were set to ",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:20:49.765435+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AICDA as Red List (low evidence)",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:20:49.756333+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aicda has been classified as Red List (Low Evidence).",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:20:19.435478+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": "Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:20:05.122210+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": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:20:05.106691+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": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:20:03.879646+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": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:20:03.869811+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": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:19:57.997741+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": "Phenotypes for gene: SPATA5 were changed from to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:19:31.857668+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPATA5 were set to ",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:19:05.343192+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPATA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:18:33.612292+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30009132, 29343804; Phenotypes: Epilepsy, hearing loss, and mental retardation syndrome MIM#616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:14:30.997784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAM17 as ready",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:14:30.991203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two families and a mouse model.",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:14:30.945301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam17 has been classified as Green List (High Evidence).",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:14:18.043807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAM17 were changed from to Inflammatory neonatal-onset skin and bowel disease, MIM#614328",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:13:45.760984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAM17 were set to ",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:13:29.327728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:13:15.869838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAM17 as Green List (high evidence)",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:13:15.861381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam17 has been classified as Green List (High Evidence).",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:10:34.739203+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAM17 as ready",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:10:34.729956+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam17 has been classified as Red List (Low Evidence).",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:09:23.957241+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:08:59.559213+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAM17 were set to ",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:08:36.176430+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:07:15.645061+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAM17 as Red List (low evidence)",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:07:15.631472+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam17 has been classified as Red List (Low Evidence).",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:06:24.244437+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN11 as ready",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:06:24.232829+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Green List (High Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:06:21.754982+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN11 were changed from to LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Metachondromatosis, 156250 AD; Noonan syndrome 1, 163950 AD; Leukemia, juvenile myelomonocytic, somatic, 607785",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:06:00.359207+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PTPN11 was changed from to Other",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:05:38.908832+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPN11 were set to ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-03-20T16:05:17.140107+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:59:23.926463+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.22",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: CD40LG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency with Hyper-IgM type 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:56:29.846054+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.22",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: CD3G: Rating: RED; Mode of pathogenicity: None; Publications: 31921117; Phenotypes: Immunodeficiency 17, CD3 gamma deficient; Mode of inheritance: None",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:56:20.592886+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF462 as ready",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:56:20.582967+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf462 has been classified as Green List (High Evidence).",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:56:17.936160+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF462 were changed from to Weiss-Kruszka syndrome, MIM#618619",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-03-20T15:55:55.937651+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF462 were set to ",
"entity_name": "ZNF462",
"entity_type": "gene"
}
]
}