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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=802",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=800",
"results": [
{
"created": "2022-07-14T10:26:58.649809+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. This is likely to be a founder variant. One family with different compound heterozygous variants. \nSources: Literature; to: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. Unclear if this is a founder variant, families of different ethnicities. One family with different compound heterozygous variants. \r\nSources: Literature",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:26:24.795858+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. This is likely to be a founder variant. One family with different compound heterozygous variants. \nSources: Literature; to: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. Unclear if this is a founder variant, families were of different ethnicities. One family with different compound heterozygous variants. \r\nSources: Literature",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:25:59.140374+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder was removed from gene: TAF8.",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:25:51.643925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder was removed from gene: TAF8.",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:25:43.939888+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder was removed from gene: TAF8.",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:23:51.923825+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAF8 as ready",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:23:51.911260+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf8 has been classified as Green List (High Evidence).",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:23:45.858347+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAF8 as Green List (high evidence)",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:23:45.850903+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf8 has been classified as Green List (High Evidence).",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:23:21.140237+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAF8 was added\ngene: TAF8 was added to Microcephaly. Sources: Literature\nfounder tags were added to gene: TAF8.\nMode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF8 were set to 29648665; 35759269\nPhenotypes for gene: TAF8 were set to Neurodevelopmental disorder, MONDO:0700092, TAF8-related\nReview for gene: TAF8 was set to GREEN\nAdded comment: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. This is likely to be a founder variant. One family with different compound heterozygous variants. \nSources: Literature",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:22:53.598158+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAF8 as ready",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:22:53.587104+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf8 has been classified as Green List (High Evidence).",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:22:46.098583+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAF8 as Green List (high evidence)",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:22:46.087852+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf8 has been classified as Green List (High Evidence).",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:22:00.380402+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAF8 was added\ngene: TAF8 was added to Genetic Epilepsy. Sources: Literature\nfounder tags were added to gene: TAF8.\nMode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF8 were set to 29648665; 35759269\nPhenotypes for gene: TAF8 were set to Neurodevelopmental disorder, MONDO:0700092, TAF8-related\nReview for gene: TAF8 was set to GREEN\nAdded comment: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. This is likely to be a founder variant. One family with different compound heterozygous variants. \nSources: Literature",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:20:22.346421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAF8 as ready",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:20:22.335067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf8 has been classified as Green List (High Evidence).",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:19:46.893702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAF8 as Green List (high evidence)",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:19:46.875283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf8 has been classified as Green List (High Evidence).",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:19:30.559264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAF8 was added\ngene: TAF8 was added to Mendeliome. Sources: Literature\nfounder tags were added to gene: TAF8.\nMode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF8 were set to 29648665; 35759269\nPhenotypes for gene: TAF8 were set to Neurodevelopmental disorder, MONDO:0700092, TAF8-related\nReview for gene: TAF8 was set to GREEN\nAdded comment: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. This is likely to be a founder variant. One family with different compound heterozygous variants. \nSources: Literature",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:18:43.190081+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: TAF8.",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:18:25.821142+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF8 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF8-related to Neurodevelopmental disorder, MONDO:0700092, TAF8-related",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:17:28.653917+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF8 were changed from to Neurodevelopmental disorder, MONDO:0700092, TAF8-related",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:16:51.048594+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAF8 were set to PMID: 29648665",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:16:23.389910+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAF8 as Green List (high evidence)",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:16:23.381636+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf8 has been classified as Green List (High Evidence).",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:15:54.235015+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAF8: Changed publications: 35759269",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:15:43.172022+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TAF8-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:10:47.156511+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNK9 were set to 28333430; 27151206; 24980697; 18678320",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:10:12.279351+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNK9: Added comment: Additional 47 individuals reported with 15 variants, including another hotspot at p.Arg131.; Changed publications: 28333430, 27151206, 24980697, 18678320, 35698242",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2022-07-14T09:57:33.405755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934) to Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934); Spinocerebellar ataxia 25, MIM# 608703",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2022-07-14T09:57:13.238817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPT1 were set to 31752325; 30244537; 28594066; 28645153; 33199448",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2022-07-14T09:56:52.492071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2022-07-14T09:56:24.306167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PNPT1: Added comment: Three families reported with heterozygous variants and SCA25. Incomplete penetrance in one of the families. In the third family, the variant was inherited from an asymptomatic 80+ year old. Note bi-allelic variants in this gene cause a mitochondrial disorder. Exact mechanism through which mono-allelic variants cause SCA25 not elucidated: authors speculate abnormal accumulation of mitochondrial RNA with subsequent leakage into the cytosol that may trigger a type 1 interferon response leading to neuroinflammation with neuronal dysfunction or neuronal loss.; Changed rating: AMBER; Changed publications: 35411967; Changed phenotypes: Spinocerebellar ataxia 25, MIM# 608703; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2022-07-14T08:41:06.938125+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.150",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: PSMB9: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34819510; Phenotypes: Autoinflammation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T08:31:36.637626+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.150",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: HCK was added\ngene: HCK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: HCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HCK were set to PMID: 34536415\nPhenotypes for gene: HCK were set to Autoinflammation\nMode of pathogenicity for gene: HCK was set to Other\nReview for gene: HCK was set to AMBER\nAdded comment: Single patient with supportive functional data. \nSources: Literature",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T08:08:38.663331+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.112",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: TBX21 was added\ngene: TBX21 was added to Defects of innate immunity. Sources: Literature\nMode of inheritance for gene: TBX21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBX21 were set to PMID: 33296702; PMID: 34160550\nPhenotypes for gene: TBX21 were set to Susceptibility to mycobacterial disease\nReview for gene: TBX21 was set to AMBER\nAdded comment: Single patient with strong functional validation \nSources: Literature",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2022-07-14T01:53:05.250916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.114",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: None; Publications: 27486780, 31765523, 33715250, 33746037, 34215651; Phenotypes: Ciliary dyskinesia, primary, 35, OMIM:617092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-13T20:22:45.366897+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTR9 as Green List (high evidence)",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2022-07-13T20:22:45.355934+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctr9 has been classified as Green List (High Evidence).",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2022-07-13T20:22:13.737917+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTR9 was added\ngene: CTR9 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTR9 were set to 35499524; 35717577\nPhenotypes for gene: CTR9 were set to Neurodevelopmental disorder (MONDO:0700092), CTR9 related; Macrocephaly\nReview for gene: CTR9 was set to GREEN\nAdded comment: Additional two individuals reported who had macrocephaly in addition to ID. \nSources: Literature",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:20:25.614333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CXCR2 as Green List (high evidence)",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:20:25.600393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxcr2 has been classified as Green List (High Evidence).",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:20:06.206891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CXCR2: Added comment: 4 unrelated patients with neutropaenia reported.; Changed rating: GREEN; Changed publications: 24777453, 34854278; Changed phenotypes: WHIM syndrome 2, MIM#619407",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:19:39.843982+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CXCR2 as Green List (high evidence)",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:19:39.831402+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxcr2 has been classified as Green List (High Evidence).",
"entity_name": "CXCR2",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:18:57.290618+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDCD1 as ready",
"entity_name": "PDCD1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:18:57.281385+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd1 has been classified as Red List (Low Evidence).",
"entity_name": "PDCD1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:18:54.912881+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDCD1 were changed from Complex Autoimmunity to Complex Autoimmunity; Inborn errors of immunity, MONDO:0003778",
"entity_name": "PDCD1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:18:35.364304+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDCD1 as Red List (low evidence)",
"entity_name": "PDCD1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:18:35.356487+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd1 has been classified as Red List (Low Evidence).",
"entity_name": "PDCD1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:17:20.358926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHOG as ready",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:17:20.347829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhog has been classified as Amber List (Moderate Evidence).",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:17:10.769313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHOG as Amber List (moderate evidence)",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:17:10.741559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhog has been classified as Amber List (Moderate Evidence).",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:16:53.316044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHOG was added\ngene: RHOG was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RHOG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RHOG were set to 33513601\nPhenotypes for gene: RHOG were set to Genetic HLH, MONDO:0015541, RHOG-related\nReview for gene: RHOG was set to AMBER\nAdded comment: Single individual reported, extensive functional data supports gene-disease association. \nSources: Literature",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:16:24.997950+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHOG as ready",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:16:24.985095+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhog has been classified as Amber List (Moderate Evidence).",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:15:33.575557+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHOG were changed from HLH to Genetic HLH, MONDO:0015541, RHOG-related",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:15:01.080461+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHOG as Amber List (moderate evidence)",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:15:01.068998+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhog has been classified as Amber List (Moderate Evidence).",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:14:35.925003+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHOG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Genetic HLH, MONDO:0015541, RHOG-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RHOG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:12:21.504115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFSF13 as ready",
"entity_name": "TNFSF13",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:12:21.493203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfsf13 has been classified as Red List (Low Evidence).",
"entity_name": "TNFSF13",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:11:37.795930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFSF13 was added\ngene: TNFSF13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TNFSF13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFSF13 were set to 32298700\nPhenotypes for gene: TNFSF13 were set to Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related\nReview for gene: TNFSF13 was set to RED\nAdded comment: Single individual, consanguineous parents. \nSources: Literature",
"entity_name": "TNFSF13",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:10:08.054181+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFSF13 as ready",
"entity_name": "TNFSF13",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:10:08.029770+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfsf13 has been classified as Red List (Low Evidence).",
"entity_name": "TNFSF13",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:10:04.571721+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFSF13 were changed from Hypogammaglobulinaemia to Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related",
"entity_name": "TNFSF13",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:09:28.009116+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNFSF13 as Red List (low evidence)",
"entity_name": "TNFSF13",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:09:27.981353+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfsf13 has been classified as Red List (Low Evidence).",
"entity_name": "TNFSF13",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:07:52.280808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU2AF1 as ready",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:07:52.272157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou2af1 has been classified as Red List (Low Evidence).",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:07:42.360411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU2AF1 was added\ngene: POU2AF1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: POU2AF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POU2AF1 were set to 33571536\nPhenotypes for gene: POU2AF1 were set to Agammaglobulinaemia, MONDO:0015977, POU2AF1-related\nReview for gene: POU2AF1 was set to RED\nAdded comment: Single individual from consanguineous parents lacking immunoglobulins despite normal total B-cell numbers. \nSources: Expert Review",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:07:19.910051+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU2AF1 as ready",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:07:19.892720+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou2af1 has been classified as Red List (Low Evidence).",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:06:24.227369+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU2AF1 were changed from Agammaglobulinaemia to Agammaglobulinaemia, MONDO:0015977, POU2AF1-related",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:05:25.869083+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POU2AF1 as Red List (low evidence)",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:05:25.857563+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou2af1 has been classified as Red List (Low Evidence).",
"entity_name": "POU2AF1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:04:02.385338+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CG as ready",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:04:02.360811+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cg has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:03:59.041938+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CG were changed from Humoral deficiency; Immune dysregulation; HLH to Immunodeficiency 97 with autoinflammation, MIM# 619802; Humoral deficiency; Immune dysregulation; HLH",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:03:29.747275+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3CG as Amber List (moderate evidence)",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:03:29.739109+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cg has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:03:01.454158+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3CG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 97 with autoinflammation, MIM# 619802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:01:29.749689+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIAPH1 as ready",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:01:29.740127+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2022-07-13T19:01:04.326721+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DIAPH1 were changed from Combined Immune deficiency to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Combined Immune deficiency",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:43:50.235492+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIAPH1 as Green List (high evidence)",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:43:50.227506+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:43:24.282559+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:41:13.876477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD28 as ready",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:41:13.864841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:41:04.871331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD28 as Amber List (moderate evidence)",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:41:04.863575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:39:07.088964+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD28 as ready",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:39:07.081412+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:39:00.891344+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD28 as Amber List (moderate evidence)",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:39:00.880409+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:38:34.015221+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD28: Rating: AMBER; Mode of pathogenicity: None; Publications: 34214472; Phenotypes: Hereditary predisposition to infections, MONDO:0015979, CD28-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD28",
"entity_type": "gene"
},
{
"created": "2022-07-13T18:38:07.040109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD28: Changed rating: AMBER",
"entity_name": "CD28",
"entity_type": "gene"
}
]
}