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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=561",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=559",
"results": [
{
"created": "2023-08-17T16:11:47.089218+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYROBP as ready",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:11:47.080304+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyrobp has been classified as Green List (High Evidence).",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:11:44.159809+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYROBP were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770)",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:11:07.647031+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYROBP were set to ",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:10:25.141966+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TYROBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:51:23.287703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, MONDO:0006497, FBXO31-related; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant to Intellectual developmental disorder, autosomal recessive 45 (MIM#615979; Cerebral palsy, MONDO:0006497, FBXO31-related; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:51:02.326480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, MONDO:0006497, FBXO31-related; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:43:42.396931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXO31 were set to 24623383; 32989326",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:42:21.019362+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G6 as ready",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:42:21.010826+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:36:39.062770+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G6 were changed from to Parkinson disease 14, autosomal recessive, MIM# 612953",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:35:22.198511+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLA2G6 were set to ",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:34:44.537884+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLA2G6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:33:41.846961+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK11 as ready",
"entity_name": "DOCK11",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:33:41.834536+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock11 has been classified as Green List (High Evidence).",
"entity_name": "DOCK11",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:33:39.052326+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK11 were changed from Inflammatory bowel disease to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109; Inflammatory bowel disease",
"entity_name": "DOCK11",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:32:56.315306+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOCK11 as Green List (high evidence)",
"entity_name": "DOCK11",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:32:56.307734+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock11 has been classified as Green List (High Evidence).",
"entity_name": "DOCK11",
"entity_type": "gene"
},
{
"created": "2023-08-17T15:32:24.619294+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DOCK11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DOCK11",
"entity_type": "gene"
},
{
"created": "2023-08-17T12:13:13.319760+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PLK4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-08-17T12:12:24.363219+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 3 unrelated families reported with autosomal recessive developmental disorder characterised by delayed psychomotor development, visual impairment, and microcephaly.; to: At least 3 unrelated families reported with autosomal recessive developmental disorder characterised by delayed psychomotor development, visual impairment, and microcephaly.\r\n\r\nShort stature but no specific skeletal abnormalities.",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2023-08-17T12:12:00.810120+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLK4: Changed rating: RED",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2023-08-17T12:11:13.996192+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Clinical features are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected.\r\n\r\nMore than 20 families reported.; to: Clinical features are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected.\r\n\r\nMore than 20 families reported.\r\n\r\nAbnormal skeletal features including thickened calvarium and abnormal vertebrae reported.",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2023-08-17T08:32:04.990375+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.105",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: DOCK11 was added\ngene: DOCK11 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: DOCK11 were set to PMID: 37342957; PMID: 36952639\nPhenotypes for gene: DOCK11 were set to Inflammatory bowel disease\nAdded comment: 12 patients across 2 studies described. Severe gastrointestinal disease was observed in most of the patients, manifested as ulcerative colitis-like or Crohn's disease-like inflammatory bowel disease, unspecified ileitis, and colitis. Oral and anal ulcerations or ileus affected 6 of the patients. \nSources: Literature",
"entity_name": "DOCK11",
"entity_type": "gene"
},
{
"created": "2023-08-16T16:32:36.583871+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0C were changed from neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related to Epilepsy, early-onset, with or without developmental delay, MIM#620465; neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-16T16:31:56.024676+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, with or without developmental delay, MIM#620465; Epilepsy; Intellectual Disability; microcephaly",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-16T16:31:11.691477+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, with or without developmental delay, MIM#620465; Epilepsy; Intellectual Disability; microcephaly",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-16T16:30:28.022162+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP6V0C: Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM#620465, Intellectual disability, seizures",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-16T16:30:03.999621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, with or without developmental delay, MIM#620465; Epilepsy; Intellectual Disability; microcephaly",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-16T16:29:26.256776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP6V0C: Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM#620465, Epilepsy, Intellectual Disability, microcephaly",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-16T16:27:27.197273+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 34722876: single multigenerational family reported with distal myopathy and 160bp deletion involving exon 10.; to: PMID 34722876: single multigenerational family reported with slowly progressive distal myopathy and 160bp deletion involving exon 10.",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2023-08-16T16:27:08.871837+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPA1 were changed from inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 to Myopathy, distal, 3, MIM# 610099; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2023-08-16T16:26:51.634013+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPA1 were set to 23455423; 27066560",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2023-08-16T16:26:25.439814+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HNRNPA1: Added comment: PMID 34722876: single multigenerational family reported with distal myopathy and 160bp deletion involving exon 10.; Changed publications: 23455423, 34291734, 34722876; Changed phenotypes: Amyotrophic lateral sclerosis 20 MIM#615426, Myopathy, distal, 3, MIM# 610099",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2023-08-16T14:23:25.514413+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: None; Publications: 25634434, 26836416, 22406380, 20938027; Phenotypes: Parkinson disease 14, autosomal recessive 612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-16T12:47:51.353559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1111",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FBXO31: Rating: AMBER; Mode of pathogenicity: None; Publications: 35019165, 24623383; Phenotypes: Intellectual developmental disorder, autosomal recessive 45 (MIM#615979); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2023-08-16T12:44:29.297820+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301376; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2023-08-16T11:58:16.829796+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301623; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 616439; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-08-16T11:52:27.593162+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301761, 21803454; Phenotypes: Amyotrophic lateral sclerosis 10, with or without FTD (MIM#612069); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-08-16T11:22:53.769506+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22084127, 22972638; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2023-08-16T11:03:25.900251+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22503161, 20301340, 25323700, 35491795; Phenotypes: Alzheimer disease-4 (MIM#606889); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2023-08-16T10:42:21.406707+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503161, 20301340; Phenotypes: Alzheimer disease, type 3 (MIM#607822, MONDO:0011913); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2023-08-16T10:29:46.801555+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27910931, 19571725, 20301407, 6351815; Phenotypes: Prion Disease (MIM#176640), Creutzfeldt-Jakob disease (MIM#123400); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-15T15:42:38.390776+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24600523, 23447832, 19480328; Phenotypes: Neurodegeneration with brain iron accumulation 1 (MIM#234200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-15T14:38:03.365828+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31838784, 20428114, 20301623; Phenotypes: Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MIM#613435); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2023-08-15T14:23:59.844219+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27792009, 20525256; Phenotypes: Niemann-pick disease, type C2 MIM#607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2023-08-15T14:16:04.310912+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: NPC1: Changed rating: AMBER",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2023-08-15T14:15:56.474559+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: NPC is a slowly progressive lysosomal disorder with subtle cognitive impairment in affected individuals at first which progresses to dementia during the disease course. LoF is the mechanism of disease. \r\n\r\nPMID: 11182931\r\nreported in one individual with NPC and dementia as a phenotype.; to: NPC is a slowly progressive lysosomal disorder with subtle cognitive impairment in affected individuals at first which progresses to dementia during the disease course. NPC type 1 is also known as \"juvenile alzheimers disease\". LoF is the mechanism of disease. \r\n\r\nPMID: 11182931\r\nreported in one individual with NPC and dementia as a phenotype.",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2023-08-15T14:14:59.093296+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: NPC1: Changed rating: GREEN; Changed publications: 20301473, 11182931, 22495346",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2023-08-15T13:20:56.926633+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556688, 34117373; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora Disease) MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2023-08-15T12:43:32.672206+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Baby Screen+ newborn screening to BabyScreen+ newborn screening",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-08-15T11:20:03.690059+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-08-15T11:18:38.422005+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPAST as ready",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2023-08-15T11:18:38.412393+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spast has been classified as Green List (High Evidence).",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2023-08-15T11:14:49.835707+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.\r\n\r\nPMID: 322442913; 22192498\r\n3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.; to: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.\r\n\r\nPMID: 32242913; 22192498\r\n3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2023-08-15T11:14:15.416458+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2023-08-15T11:14:12.466801+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: SPAST: Changed publications: 32242913, 22192498, 26374131, 20301339",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2023-08-15T11:06:26.366815+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2023-08-15T11:06:26.356048+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hexa has been classified as Green List (High Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2023-08-15T10:43:56.275116+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: PLA2G6: Added comment: Established gene-disease associated with neuropathy as a clinical feature. \r\n\r\nPMID: 25164370\r\n9 individuals from 6 unrelated families with motor or sensory-motor neuropathy. All individuals were found to share the p.V691del variant which is a founder variant in the North African population.; Changed rating: GREEN; Changed publications: 25164370",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-15T10:37:43.019495+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: PDHA1: Added comment: PMID: 33661577\r\nYoung boy from China with lethal neuropathy and the presence of a de novo mutation in PDHA1 (c.1167_1170del; p.Ser390LysfsTer33) that is clinically significant for Leigh Syndrome. PDCD is known a biochemical pathway in individuals with Leigh Syndrome. \r\n\r\nPMID: 36693417\r\nMultiple reported individual with sensory-motor polyneuropathy and a high serum lactate. One individual identified with a hemizygous mutation (p.Arg88Cys) causative of pyruvate dehydrogenase complex deficiency.; Changed rating: GREEN; Changed publications: 33661577, 36693417, 34138529; Changed phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM#312170",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-08-15T10:24:05.131563+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: MTTP: Added comment: Reported in multiple individuals with progressive neuropathy due to the deficiency of fat-soluble vitamins (vitamins E, A, D, K). Neuropathy typically presents due to a lack of vitamin E in individuals.; Changed rating: GREEN; Changed publications: 10679949, 29540175",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2023-08-15T09:56:12.271012+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.275",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: HEXA were set to ",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2023-08-15T09:50:59.753927+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.274",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: ERCC8: Added comment: Established gene-disease association with progressive neuropathy a feature in individuals with Cockayne Syndrome. \r\n\r\nPMID: 29422660\r\nIn vitro minigene assay was conducted to test the splice effect of c.173+1119G>C which showed the introduction of a premature termination codon at the end of exon resulting in loss of function of the ERCC8 protein.; Changed rating: GREEN; Changed publications: 25453614, 29422660, 4320535",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2023-08-15T09:34:11.647664+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.274",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: ERCC6: Added comment: PMID: 25376329\r\nTwo siblings from a consanguineous family with bilateral peripheral neuropathy and a homozygous splice variant in ERCC6 (c.1992+3A>G). \r\n\r\nPMID: 25453614\r\nProgressive neuropathy has been identified in multiple individuals with Cockayne Syndrome.; Changed rating: GREEN; Changed publications: 25376329, 25453614",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2023-08-15T09:13:57.501393+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.274",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: ASAH1: Added comment: PMID:27026573\r\nSiblings from a consanguineous family with SMA phenotype and a homozygous mutation in ASAH1. \r\n\r\nPMID: 22703880\r\n5 individuals from 2 unrelated families with SMA and a homozygous mutation (Thr42Met) in ASAH1.\r\n\r\nIn vivo functional assay using Zebrafish model showed a loss in motor neuron axonal branching and increased apotheosis in the spinal cord suggesting that ASAH plays an integral role in motor-axonal branching and in the survival of spinal cord neurons.; Changed rating: GREEN; Changed publications: 27026573, 22703880; Changed phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950)",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2023-08-15T08:37:43.331719+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.274",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: SPAST: Added comment: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.\r\n\r\nPMID: 322442913; 22192498\r\n3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.; Changed rating: GREEN; Changed publications: 322442913, 22192498, 26374131, 20301339",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2023-08-15T08:16:19.476438+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.274",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: HEXA is associated with the clinical phenotype known as Tay-Sachs disease. \r\nEvidence of sensory neuropathy was present in two unrelated individuals with tay Sachs disease however genetic testing wasn’t conducted to confirm the presence of a HEXA genetic variant in either individual.; to: PMID: 3159334, 1838393: HEXA is associated with the clinical phenotype known as Tay-Sachs disease. \r\nEvidence of sensory neuropathy was present in two unrelated individuals with tay Sachs disease however genetic testing wasn’t conducted to identify genetic pathogenesis. ",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2023-08-15T08:14:43.555033+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.274",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: HEXA: Added comment: Established gene disease associated with >3 unrelated individuals with neuropathy as a clinical feature. \r\nMutations in HEXA gene cause juvenile gm2 gangliosidosis (jGM2) and Tay Sachs is a well established form of jGM2.\r\n\r\nPMID: 17015493\r\nOne individual with variant in HEXA and diagnosis of Tay Sachs\r\n\r\nPMID: 18642377\r\nMultiple individuals diagnosed with late onset tay-Sachs and identified to have axonal polyneuropathy in 8 individuals.; Changed rating: GREEN; Changed publications: 17015493, 18642377, 3159334, 1838393",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2023-08-15T03:04:11.616281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1111",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28687524, 37010288; Phenotypes: Pierpont syndrome, OMIM:602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2023-08-15T01:27:58.578041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1111",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: None; Publications: 12207937, 21798101, 33376055, 37010288; Phenotypes: Arthrogryposis multiplex congenita 6, OMIM:619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-08-15T01:23:06.481102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1111",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30131190, 37010288; Phenotypes: Arthrogryposis, distal, type 5D, OMIM:615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:56:44.237251+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC1 as ready",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:56:44.225536+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:56:40.199442+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1 (MIM#257220; MONDO:0009757)",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:16:51.800542+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPC1 were set to ",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:16:07.719091+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:15:03.740347+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBQLN2 were changed from Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857) to Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:15:01.556849+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBQLN2 as ready",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:15:01.543229+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubqln2 has been classified as Green List (High Evidence).",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:14:32.487391+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBQLN2 were changed from to Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:13:53.053523+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBQLN2 were set to ",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:13:17.502896+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBQLN2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:11:44.341438+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: IFRD1.",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:08:04.619275+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VCP as ready",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:08:04.606775+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:07:00.598390+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VCP were changed from to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320); Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954)",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:06:24.818023+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VCP were set to ",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:05:49.510984+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VCP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:04:47.713722+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XK as ready",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:04:47.704651+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xk has been classified as Green List (High Evidence).",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:04:44.773344+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XK were changed from to McLeod syndrome with or without chronic granulomatous disease (MIM#300842)",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:04:13.863007+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XK were set to ",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:03:31.602927+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2023-08-14T19:02:49.246595+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: McLeod syndrome with or without chronic granulomatous disease (MIM#300842); 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": "XK",
"entity_type": "gene"
},
{
"created": "2023-08-14T18:59:37.630739+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRN as ready",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2023-08-14T18:59:37.618797+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grn has been classified as Green List (High Evidence).",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2023-08-14T18:59:18.794796+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRN were changed from to frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2023-08-14T18:58:39.776950+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRN were set to ",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2023-08-14T18:58:00.277581+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRN",
"entity_type": "gene"
}
]
}