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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=321",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=319",
"results": [
{
"created": "2024-12-16T14:37:00.793539+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lyn has been classified as Green List (High Evidence).",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:35:07.314430+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LYN was added\ngene: LYN was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: LYN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LYN were set to 36932076; 36122175\nPhenotypes for gene: LYN were set to Autoinflammatory disease, systemic, with vasculitis MONDO:0957271\nMode of pathogenicity for gene: LYN was set to Other",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:30:17.324140+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LSM11 as ready",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:30:17.313812+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lsm11 has been classified as Red List (Low Evidence).",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:30:09.144099+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LSM11 was added\ngene: LSM11 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM11 were set to 33230297\nPhenotypes for gene: LSM11 were set to Aicardi-Goutieres syndrome MONDO:0018866\nReview for gene: LSM11 was set to RED\nAdded comment: A single consanguineous family reported so far \nSources: Expert list",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2024-12-16T13:45:56.439054+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16439204, 16439205, 37703920; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2024-12-16T13:15:35.300528+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20577004, 26073778; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3), Infantile liver failure syndrome 2, 616483 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:23:12.815637+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"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": "2024-12-16T12:22:56.979697+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-16T12:12:31.930372+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TLR7 as ready",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:12:31.917956+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tlr7 has been classified as Green List (High Evidence).",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:12:17.421040+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TLR7 as Green List (high evidence)",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:12:17.399658+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tlr7 has been classified as Green List (High Evidence).",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:11:40.092382+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TLR7 was added\ngene: TLR7 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: TLR7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TLR7 were set to 32706371; 35708626\nPhenotypes for gene: TLR7 were set to Immunodeficiency 74, COVID-19-related, X-linked MONDO:0026767\nReview for gene: TLR7 was set to GREEN\nAdded comment: At least 7 families with affected hemizygous males. IUIS IEI committee categorise gene under Predisposition to Severe Viral Infection. \nSources: Expert list",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:06:46.359759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: TLR4 were changed from to Inflammatory bowel disease MONDO:0005265",
"entity_name": "TLR4",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:06:08.461783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TLR4 were set to ",
"entity_name": "TLR4",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:05:35.047878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2210",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: TLR4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TLR4",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:05:31.615612+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TLR4 as ready",
"entity_name": "TLR4",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:05:31.579058+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tlr4 has been classified as Red List (Low Evidence).",
"entity_name": "TLR4",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:05:08.974186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TLR4: Rating: RED; Mode of pathogenicity: None; Publications: 32042729, 31442584; Phenotypes: Inflammatory bowel disease MONDO:0005265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TLR4",
"entity_type": "gene"
},
{
"created": "2024-12-16T12:05:03.711737+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TLR4 was added\ngene: TLR4 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: TLR4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TLR4 were set to 32042729; 31442584\nPhenotypes for gene: TLR4 were set to Inflammatory bowel disease MONDO:0005265\nReview for gene: TLR4 was set to RED\nAdded comment: The IUIS IEI committee has this gene listed as a cause of inflammatory bowel disease under the TLR Signaling Pathway Deficiency categorisation, but I cannot find any reports of Mendelian disease. There are knockout mouse models with ulcerative colitis. \nSources: Expert list",
"entity_name": "TLR4",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:46:32.867504+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SNORA31 as Green List (high evidence)",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:46:32.843091+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: snora31 has been classified as Green List (High Evidence).",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:45:52.257877+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SNORA31 was added\ngene: SNORA31 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNORA31 were set to 31806906\nPhenotypes for gene: SNORA31 were set to encephalitis, acute, infection-induced, susceptibility to MONDO:0800174",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:39:58.872711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RNASEL as ready",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:39:58.832882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnasel has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:39:49.128482+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RNASEL as Amber List (moderate evidence)",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:39:49.096788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnasel has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:39:21.437541+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RNASEL as ready",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:39:21.388855+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnasel has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:38:59.699302+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RNASEL as Amber List (moderate evidence)",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:38:59.674053+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnasel has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:38:26.760876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNASEL was added\ngene: RNASEL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNASEL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEL were set to 36538032; 9351818\nPhenotypes for gene: RNASEL were set to Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related\nReview for gene: RNASEL was set to AMBER\nAdded comment: A single case reported with a homozygous variant reported and a supporting null mouse model. \nSources: Literature",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:37:15.678280+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNASEL was added\ngene: RNASEL was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: RNASEL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEL were set to 36538032; 9351818\nPhenotypes for gene: RNASEL were set to Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related\nReview for gene: RNASEL was set to AMBER\nAdded comment: A single case reported with a homozygous variant reported and a supporting null mouse model. \nSources: Expert list",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:26:58.596361+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.174",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RIPK3 as Amber List (moderate evidence)",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:26:58.580030+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.174",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ripk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:26:18.196812+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.173",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RIPK3 was added\ngene: RIPK3 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: RIPK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIPK3 were set to 37083451\nPhenotypes for gene: RIPK3 were set to Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:23:17.003120+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.172",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OAS2 as Green List (high evidence)",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:23:16.989102+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.172",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oas2 has been classified as Green List (High Evidence).",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:22:40.125779+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.171",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OAS2 was added\ngene: OAS2 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: OAS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OAS2 were set to 36538032\nPhenotypes for gene: OAS2 were set to Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:20:41.584497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: The monoallelic association is definitive (with a GoF mechanism of disease) and biallelic variants (LoF) have only been reported in a single family (limited evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:20:41.565700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: OAS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:18:50.702665+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.170",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OAS1 as ready",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:18:50.691472+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.170",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oas1 has been classified as Red List (Low Evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:18:39.834824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2206",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: OAS1: Rating: RED; Mode of pathogenicity: None; Publications: 36538032; Phenotypes: Multisystem inflammatory syndrome in children and adults MONDO:0035375; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:17:54.360753+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.170",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OAS1 was added\ngene: OAS1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: OAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OAS1 were set to 36538032\nPhenotypes for gene: OAS1 were set to Multisystem inflammatory syndrome in children and adults MONDO:0035375\nReview for gene: OAS1 was set to RED\nAdded comment: A single case with MIS-C with a homozygous LoF (p.Arg47*) variant and a supporting in vitro functional assay. \nSources: Expert list",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2024-12-16T11:02:43.254530+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOS2 was added\ngene: NOS2 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: NOS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NOS2 were set to 31995689\nPhenotypes for gene: NOS2 were set to inborn error of immunity MONDO:0003778",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2024-12-16T10:43:10.043393+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LY96 as ready",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2024-12-16T10:43:10.033367+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ly96 has been classified as Red List (Low Evidence).",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2024-12-16T10:42:42.297467+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LY96 was added\ngene: LY96 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: LY96 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LY96 were set to 36462957\nPhenotypes for gene: LY96 were set to Inborn error of immunity, MONDO:0003778, LY96-related\nReview for gene: LY96 was set to RED\nAdded comment: Only a single family reported. The IUIS IEI committee categorises this gene as TLR Signaling Pathway Deficiency. \nSources: Expert list",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2024-12-16T10:35:15.246321+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IRF9 as Amber List (moderate evidence)",
"entity_name": "IRF9",
"entity_type": "gene"
},
{
"created": "2024-12-16T10:35:15.236727+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: irf9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF9",
"entity_type": "gene"
},
{
"created": "2024-12-16T10:34:38.306875+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IRF9 was added\ngene: IRF9 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IRF9 were set to 30826365; 30143481\nPhenotypes for gene: IRF9 were set to immunodeficiency 65, susceptibility to viral infections MONDO:0032848",
"entity_name": "IRF9",
"entity_type": "gene"
},
{
"created": "2024-12-16T10:23:59.476317+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IRF4 as Green List (high evidence)",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2024-12-16T10:23:59.455314+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: irf4 has been classified as Green List (High Evidence).",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2024-12-16T10:23:20.164701+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IRF4 was added\ngene: IRF4 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IRF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IRF4 were set to 36662884, 36917008, 29537367, 29408330\nPhenotypes for gene: IRF4 were set to combined immunodeficiency MONDO:0015131\nReview for gene: IRF4 was set to GREEN\ngene: IRF4 was marked as current diagnostic\nAdded comment: IRF4 is a transcription factor involved in the regulation of innate immunity. Definitive gene-disease association - https://search.clinicalgenome.org/CCID:008358. The IUIS IEI committee categorises this gene as other inborn errors of immunity related to leukocytes. \nSources: Expert list",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2024-12-15T18:31:31.952812+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IL18BP was added\ngene: IL18BP was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL18BP were set to 31213488\nPhenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2024-12-15T18:23:32.225028+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IKBKE as ready",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-12-15T18:23:32.215846+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ikbke has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-12-15T18:23:18.656297+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IKBKE as Amber List (moderate evidence)",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-12-15T18:23:18.643897+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ikbke has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-12-15T18:20:16.187126+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IKBKE was added\ngene: IKBKE was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IKBKE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKBKE were set to 37937644\nPhenotypes for gene: IKBKE were set to Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related",
"entity_name": "IKBKE",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:56:44.779495+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 32028041; Phenotypes: Atransferrinemia MIM#209300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:49:37.800998+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PRPS1 deficiency disorder MONDO:0100061, Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395; 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": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:28:56.593825+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FERMT1 as ready",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:28:56.583600+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fermt1 has been classified as Green List (High Evidence).",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:28:40.043526+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FERMT1 were changed from Kindler syndrome, 173650 (3) to Kindler syndrome, MIM#173650",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:28:24.524612+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FERMT1 were set to ",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:27:41.177604+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMAN1 as ready",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:27:41.137267+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lman1 has been classified as Green List (High Evidence).",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:27:37.451859+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMAN1 were changed from Combined factor V and VIII deficiency, 227300 (3) to Combined factor V and VIII deficiency, MIM#227300",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:27:24.911858+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMAN1 were set to ",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:26:28.501554+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.832",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23852824; Phenotypes: Combined factor V and VIII deficiency MIM#227300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:26:24.930425+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSHB as ready",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:26:24.917038+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshb has been classified as Green List (High Evidence).",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:25:51.591985+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSHB were set to ",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:25:19.481572+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN54 as ready",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:25:19.462440+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen54 has been classified as Green List (High Evidence).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:25:05.898496+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 2A, 277470 (3) to Pontocerebellar hypoplasia type 2A (MIM#277470); Pontocerebellar hypoplasia type 4 (MIM#225753)",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:23:07.425325+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN54 were set to ",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:22:43.217304+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TPRKB.",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:22:10.058331+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: D2HGDH as ready",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:22:10.043117+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: d2hgdh has been classified as Green List (High Evidence).",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:22:05.328898+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria, 600721 (3) to D-2-hydroxyglutaric aciduria, MIM#600721",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:21:49.441522+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: D2HGDH were set to ",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:21:07.694306+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP11B2 as ready",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:21:07.683931+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp11b2 has been classified as Green List (High Evidence).",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:21:03.051724+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP11B2 were changed from Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) to Hypoaldosteronism, congenital, due to CMO I deficiency, MIM#203400",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:18:53.871223+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP11B2 were set to ",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:04:41.372011+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.825",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301548; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; 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": "GJB1",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:03:40.715414+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL7 as ready",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:03:40.696929+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul7 has been classified as Green List (High Evidence).",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:03:36.521657+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL7 were changed from 3-M syndrome 1, 273750 (3) to 3-M syndrome 1, MIM#273750",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2024-12-13T16:03:24.669745+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CUL7 were set to ",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:59:38.218088+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN19 as ready",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:59:38.202124+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn19 has been classified as Green List (High Evidence).",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:59:32.808407+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement, 248190 (3) to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:59:17.382282+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLDN19 were set to ",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:57:50.725157+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WHRN as ready",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:57:50.708049+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: whrn has been classified as Green List (High Evidence).",
"entity_name": "WHRN",
"entity_type": "gene"
}
]
}