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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=351",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=349",
"results": [
{
"created": "2024-11-10T16:32:04.227629+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshz3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSHZ3",
"entity_type": "gene"
},
{
"created": "2024-11-10T16:03:32.034722+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GINS4 as ready",
"entity_name": "GINS4",
"entity_type": "gene"
},
{
"created": "2024-11-10T16:03:32.009720+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gins4 has been classified as Red List (Low Evidence).",
"entity_name": "GINS4",
"entity_type": "gene"
},
{
"created": "2024-11-10T16:03:24.317907+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GINS4 was added\ngene: GINS4 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: GINS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS4 were set to 36345943\nPhenotypes for gene: GINS4 were set to combined immunodeficiency MONDO:0015131\nReview for gene: GINS4 was set to RED\nAdded comment: 2 affected siblings with compound het variants are reported in a single family. \nSources: Expert list",
"entity_name": "GINS4",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:50:05.659692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TAPBP were set to 12149238",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:49:11.252975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TAPBP as Amber List (moderate evidence)",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:49:11.241376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tapbp has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:48:51.577078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TAPBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 38866210, 12149238; Phenotypes: MHC class I deficiency MONDO:0011476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:48:25.435334+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.91",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TAPBP were set to 12149238",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:47:05.499630+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TAPBP as Amber List (moderate evidence)",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:47:05.486190+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tapbp has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:46:33.892239+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TAPBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 38866210, 12149238; Phenotypes: MHC class I deficiency MONDO:0011476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:40:18.920260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RHOH were set to 22850876; 27574848",
"entity_name": "RHOH",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:40:11.142827+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RHOH were set to 38775840; 22850876; 27574848",
"entity_name": "RHOH",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:39:33.031338+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RHOH were set to 22850876; 27574848",
"entity_name": "RHOH",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:39:25.582008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RHOH as Amber List (moderate evidence)",
"entity_name": "RHOH",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:39:25.545910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rhoh has been classified as Amber List (Moderate Evidence).",
"entity_name": "RHOH",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:38:36.087400+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.87",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RHOH as Amber List (moderate evidence)",
"entity_name": "RHOH",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:38:36.068455+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.87",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rhoh has been classified as Amber List (Moderate Evidence).",
"entity_name": "RHOH",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:38:33.256544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RHOH: Rating: AMBER; Mode of pathogenicity: None; Publications: 38775840, 22850876; Phenotypes: epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RHOH",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:37:40.445442+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RHOH: Rating: AMBER; Mode of pathogenicity: None; Publications: 38775840, 22850876; Phenotypes: epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RHOH",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:27:47.829254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRIM1 as Green List (high evidence)",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:27:47.816658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Green List (High Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:27:15.831633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PRIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33060134, 38773012; Phenotypes: primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:25:01.237913+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRIM1 as ready",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:25:01.216814+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Green List (High Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:24:54.678595+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: 8 cases from 6 families with combined immunodeficiency a feature of the condition. \nSources: Expert list; to: 8 cases from 6 families with combined immunodeficiency a feature of the condition. IUIS IEI committee classify the gene in the subcategory Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency.\r\nSources: Expert list",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:23:55.318119+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRIM1 as Green List (high evidence)",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:23:55.307685+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Green List (High Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:23:22.099623+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.85",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRIM1 was added\ngene: PRIM1 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRIM1 were set to 33060134; 38773012\nPhenotypes for gene: PRIM1 were set to primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276\nReview for gene: PRIM1 was set to GREEN\nAdded comment: 8 cases from 6 families with combined immunodeficiency a feature of the condition. \nSources: Expert list",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:12:20.163434+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POLD3 as ready",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:12:20.151065+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pold3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:12:11.933728+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLD3 as Amber List (moderate evidence)",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:12:11.922273+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pold3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:11:34.514899+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLD3 was added\ngene: POLD3 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLD3 were set to 38099988; 37030525\nPhenotypes for gene: POLD3 were set to Immunodeficiency 122, MIM# 620869\nReview for gene: POLD3 was set to AMBER\nAdded comment: Two reported cases. IUIS IEI committee classify the gene in the subcategory Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency. \nSources: Expert list",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:01:34.508654+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B2 were changed from ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:01:18.094003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MAN2B2 were set to 31775018; 35637269",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:00:34.788270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2024-11-10T15:00:06.871573+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MAN2B2 were set to 31775018; 35637269",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:58:58.000397+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:57:40.376482+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MAN2B2 were set to PMID: 31775018",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:51:17.689872+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MAN2B2 as Amber List (moderate evidence)",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:51:17.679130+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: man2b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:50:34.194545+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:41:07.677009+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IL21 as Red List (low evidence)",
"entity_name": "IL21",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:41:07.672652+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only a single case reported",
"entity_name": "IL21",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:41:07.640049+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: il21 has been classified as Red List (Low Evidence).",
"entity_name": "IL21",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:35:20.877616+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IKZF2 as ready",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:35:20.858442+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ikzf2 has been classified as Green List (High Evidence).",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:35:16.924244+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IKZF2 as Green List (high evidence)",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:35:16.909878+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ikzf2 has been classified as Green List (High Evidence).",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:34:42.825573+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IKZF2 was added\ngene: IKZF2 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: IKZF2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: IKZF2 were set to 34826260; 34826259; 34920454\nPhenotypes for gene: IKZF2 were set to HELIOS deficiency MONDO:0800139\nReview for gene: IKZF2 was set to GREEN\nAdded comment: Cases present with a combined immunodeficiency phenotype characterised by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. Incomplete penetrance is reported. IUIS IEI committee include this gene in the Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency subcategory of Immunodeficiencies affecting cellular and humoral immunity. \nSources: Expert list",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:22:36.638007+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXI3 as ready",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:22:36.623367+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxi3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:22:24.937324+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FOXI3 as Amber List (moderate evidence)",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:22:24.926831+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxi3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2024-11-10T14:21:52.408500+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOXI3 was added\ngene: FOXI3 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXI3 were set to 35987349; 31600545\nPhenotypes for gene: FOXI3 were set to thymic dysplasia MONDO:0004195\nReview for gene: FOXI3 was set to AMBER\nAdded comment: 2 cases with loss of function variants in FOXI3 that resulted in abnormal TRECs and T cell lymphopenia. Incomplete penetrance in both families (4 unaffected individuals with variant & 2 affected with variant). Also, 5 families with overlapping microdeletions at chromosome 2p11.2 that spanned FOXI3 with similar immunophenotypes that included selective T cell lymphopenia. Also, supporting mouse models. However, due to the incomplete penetrance the gene-disease association remains uncertain. \nSources: Expert list",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2024-11-10T12:20:23.435093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NUDCD3 as ready",
"entity_name": "NUDCD3",
"entity_type": "gene"
},
{
"created": "2024-11-10T12:20:23.424594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nudcd3 has been classified as Green List (High Evidence).",
"entity_name": "NUDCD3",
"entity_type": "gene"
},
{
"created": "2024-11-10T12:19:46.483721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NUDCD3 as Green List (high evidence)",
"entity_name": "NUDCD3",
"entity_type": "gene"
},
{
"created": "2024-11-10T12:19:46.470861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nudcd3 has been classified as Green List (High Evidence).",
"entity_name": "NUDCD3",
"entity_type": "gene"
},
{
"created": "2024-11-10T12:11:51.008514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NUDCD3 was added\ngene: NUDCD3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NUDCD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDCD3 were set to 38787962\nPhenotypes for gene: NUDCD3 were set to severe combined immunodeficiency MONDO:0015974",
"entity_name": "NUDCD3",
"entity_type": "gene"
},
{
"created": "2024-11-10T12:07:28.985647+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MCTS1 as ready",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2024-11-10T12:07:28.955448+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mcts1 has been classified as Green List (High Evidence).",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2024-11-10T12:06:59.305440+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MCTS1 were changed from to Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2024-11-10T12:02:54.272955+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MCTS1 were set to ",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:59:02.810604+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MCTS1 as Green List (high evidence)",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:59:02.772156+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mcts1 has been classified as Green List (High Evidence).",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:58:14.509355+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MAPK8 as ready",
"entity_name": "MAPK8",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:58:14.492681+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mapk8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPK8",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:56:42.692509+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MAPK8 were changed from to Chronic mucocutaneous candidiasis; Connective tissue disorders",
"entity_name": "MAPK8",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:53:10.461647+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MAPK8 were set to ",
"entity_name": "MAPK8",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:51:54.532732+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MAPK8 as Amber List (moderate evidence)",
"entity_name": "MAPK8",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:51:54.521403+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mapk8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPK8",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:50:33.495997+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IRF1 as ready",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:50:33.473442+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: irf1 has been classified as Green List (High Evidence).",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:50:23.884535+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: IRF1 were changed from to Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:49:41.311117+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: IRF1 were set to ",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:49:08.359207+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IRF1 as Green List (high evidence)",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:49:08.341924+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: irf1 has been classified as Green List (High Evidence).",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:45:35.453039+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IRF1 was added\ngene: IRF1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IRF1 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:44:28.028597+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAPK8 was added\ngene: MAPK8 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAPK8",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:43:00.999964+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.142",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MCTS1 was added\ngene: MCTS1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: MCTS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:16:15.439898+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATG9A as ready",
"entity_name": "ATG9A",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:16:15.428068+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atg9a has been classified as Red List (Low Evidence).",
"entity_name": "ATG9A",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:05:38.339375+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATG9A was added\ngene: ATG9A was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: ATG9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG9A were set to 35838483\nPhenotypes for gene: ATG9A were set to Autophagy-associated immune dysregulation and hyperplasia\nReview for gene: ATG9A was set to RED\nAdded comment: A single case with compound heterozygous variants was reported. After infection with Epstein-Barr virus (EBV), the patient developed hyperplastic proliferation of T and B cells in the lung and brain and exhibited defects in lymphocyte memory cell populations. In vitro functional assays. \nSources: Literature",
"entity_name": "ATG9A",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:04:38.031364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATG9A as ready",
"entity_name": "ATG9A",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:04:38.018547+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atg9a has been classified as Red List (Low Evidence).",
"entity_name": "ATG9A",
"entity_type": "gene"
},
{
"created": "2024-11-10T11:03:58.265311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATG9A was added\ngene: ATG9A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATG9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG9A were set to 35838483\nPhenotypes for gene: ATG9A were set to Autophagy-associated immune dysregulation and hyperplasia\nReview for gene: ATG9A was set to RED\nAdded comment: A single case with compound heterozygous variants was reported. After infection with Epstein-Barr virus (EBV), the patient developed hyperplastic proliferation of T and B cells in the lung and brain and exhibited defects in lymphocyte memory cell populations. In vitro functional assays. \nSources: Literature",
"entity_name": "ATG9A",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:49:10.676011+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MS4A1 as Amber List (moderate evidence)",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:49:10.663934+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ms4a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:41:16.823082+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CCR2 as ready",
"entity_name": "CCR2",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:41:16.811721+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccr2 has been classified as Green List (High Evidence).",
"entity_name": "CCR2",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:40:27.773172+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCR2 as Green List (high evidence)",
"entity_name": "CCR2",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:40:27.763808+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccr2 has been classified as Green List (High Evidence).",
"entity_name": "CCR2",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:40:02.412094+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CCR2 were changed from {HIV infection, susceptibility/resistance to} to {HIV infection, susceptibility/resistance to}; Polycystic lung disease MIM#219600",
"entity_name": "CCR2",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:39:57.386766+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCR2 was added\ngene: CCR2 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: CCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCR2 were set to 38157855\nPhenotypes for gene: CCR2 were set to Polycystic lung disease MIM#219600\nReview for gene: CCR2 was set to GREEN\nAdded comment: CCR2 deficiency was found to cause pulmonary alveolar proteinosis (PAP), polycystic lung disease, and recurrent infections caused by impaired CCL2-dependent monocyte migration to the lungs and infected tissues. 9 children from 5 independent kindreds with biallelic variants, homozygous in 6 cases & compound heterozygous in 3 were identified. Classified as a congenital defect of phagocyte number or function (subcategory defects of motility) by the IUIS IEI committee. \nSources: Expert list",
"entity_name": "CCR2",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:39:25.129866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CCR2 were set to 34516427; 17504215; 15167933; 17604544",
"entity_name": "CCR2",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:39:01.573398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCR2",
"entity_type": "gene"
},
{
"created": "2024-11-10T10:38:43.801516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCR2 as Green List (high evidence)",
"entity_name": "CCR2",
"entity_type": "gene"
}
]
}