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{
"count": 220257,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1381",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1379",
"results": [
{
"created": "2021-03-18T15:59:52.781467+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:59:16.912930+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Predominantly Antibody Deficiency. Sources: Other\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBAS were set to 26286438; 33042920\nPhenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800\nReview for gene: NBAS was set to GREEN\nAdded comment: Immunological abnormalities leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients \nSources: Other",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:46:12.816104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6767",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LRRC8A as ready",
"entity_name": "LRRC8A",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:46:12.808322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6767",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lrrc8a has been classified as Red List (Low Evidence).",
"entity_name": "LRRC8A",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:46:05.751340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6767",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LRRC8A as Red List (low evidence)",
"entity_name": "LRRC8A",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:46:05.735632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6767",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lrrc8a has been classified as Red List (Low Evidence).",
"entity_name": "LRRC8A",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:45:43.739977+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6766",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: A single case reported with a reciprocal translocation, t(9;20)(q33.2;q12), and demonstrated truncation of the LRRC8A gene. No other supporting evidence; to: A single case reported with a reciprocal translocation, t(9;20)(q33.2;q12), and demonstrated truncation of the LRRC8A gene. No other supporting evidence could be identified.",
"entity_name": "LRRC8A",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:45:25.086705+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6766",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LRRC8A: Rating: RED; Mode of pathogenicity: None; Publications: 14660746; Phenotypes: ?Agammaglobulinemia 5 MIM#613506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LRRC8A",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:34:55.922748+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FAM57B as Green List (high evidence)",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:34:55.915206+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fam57b has been classified as Green List (High Evidence).",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:34:42.262936+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FAM57B was added\ngene: FAM57B was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM57B were set to PMID: 33077892\nPhenotypes for gene: FAM57B were set to Cone–rod dystrophy; Maculopathy\nReview for gene: FAM57B was set to GREEN\nAdded comment: 4 patients with cone-rod dystrophy or maculopathy from 3 families, with LOF pathogenic variants in TLCD3B (ceramide synthase gene). Ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. Variants segregated with disease. TLCD3B showed high expression in the adult retina with higher expression in the macular than in the peripheral region. Tlcd3bKO/KO mice exhibited a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina. \nSources: Literature",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:33:49.722540+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MSH6 as ready",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:33:49.710468+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msh6 has been classified as Red List (Low Evidence).",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:33:36.575903+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency to Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency; immunodeficiency",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:33:01.819739+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: MSH6: Changed phenotypes: Mismatch repair cancer syndrome 3 MIM#619097, constitutional mismatch repair deficiency, immunodeficiency",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:32:42.833201+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSH6 were set to 22250089; 32048120; 30013564\nPhenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency\nReview for gene: MSH6 was set to RED\nAdded comment: 5 CMMRD cases with homozygous/compound heterozygous did not show any clinical warning signs of PID (infections, immune dysregulation, inflammation, failure to thrive, etc.) or uniform/specific patterns of laboratory abnormalities. \nSources: Expert list",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:08:29.317298+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:08:29.305704+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:08:15.708913+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KMT2A as Amber List (moderate evidence)",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:08:15.700973+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:07:35.113360+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KMT2A was added\ngene: KMT2A was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2A were set to 32048120; 28623346; 27320412\nPhenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome MIM#605130\nReview for gene: KMT2A was set to AMBER\nAdded comment: 4 cases with combined immunodeficiency from 2 unrelated families. \nSources: Expert list",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:56:29.180664+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KDM6A as Green List (high evidence)",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:56:29.172852+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:55:47.135364+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KDM6A were set to 31363182; 32048120\nPhenotypes for gene: KDM6A were set to Kabuki syndrome 2 MIM#300867\nReview for gene: KDM6A was set to GREEN\nAdded comment: Around 50% of Kabuki syndrome cases have immunopathological manifestations \nSources: Expert list",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:53:44.795789+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KMT2D as ready",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:53:44.785207+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:53:33.826622+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KMT2D as Green List (high evidence)",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:53:33.815873+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:52:55.223008+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2D were set to 31363182; 32048120\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1 MIM#147920\nReview for gene: KMT2D was set to GREEN\nAdded comment: Around 50% of Kabuki syndrome cases have immunopathological manifestations \nSources: Expert list",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:40:55.127342+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TGFBR2 as Green List (high evidence)",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:40:55.122522+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: IUIS CID gene",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:40:55.092402+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:40:24.157405+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TGFBR2 as ready",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:40:24.146745+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:40:16.560378+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TGFBR2 as Green List (high evidence)",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:40:16.547534+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:39:44.956316+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGFBR2 was added\ngene: TGFBR2 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFBR2 were set to 24333532; 23884466; 32048120\nPhenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 MIM#610168\nMode of pathogenicity for gene: TGFBR2 was set to Other\nReview for gene: TGFBR2 was set to GREEN\nAdded comment: There is a high prevalence of multiple immunologic phenotypes, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal diseases in LDS cases with TGFBR2 pathogenic missense variants. \nSources: Expert list",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:37:29.168102+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TGFBR1 as ready",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:37:29.160241+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:37:09.568819+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TGFBR1 as Green List (high evidence)",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:37:09.564009+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: IUIS CID gene",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:37:09.538828+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:36:16.851807+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGFBR1 was added\ngene: TGFBR1 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFBR1 were set to 24333532; 23884466; 32048120\nPhenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1 MIM#609192\nMode of pathogenicity for gene: TGFBR1 was set to Other\nReview for gene: TGFBR1 was set to GREEN\nAdded comment: There is a high prevalence of multiple immunologic phenotypes, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal diseases in LDS cases with TGFBR1 pathogenic missense variants. \nSources: Expert list",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:08:05.477699+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RNU4ATAC as ready",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:08:05.469902+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:08:01.019855+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RNU4ATAC as Green List (high evidence)",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:08:01.009536+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-03-18T14:07:30.381237+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU4ATAC were set to 32048120; 26522830; 29265708\nPhenotypes for gene: RNU4ATAC were set to Lowry-Wood syndrome MIM#226960; Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710; Roifman syndrome MIM#616651\nReview for gene: RNU4ATAC was set to GREEN\ngene: RNU4ATAC was marked as current diagnostic\nAdded comment: Conditions caused by this gene are classified as Immuno-osseus dysplasias by IUIS (under CID with syndromic features). >3 unrelated cases have been reported. \nSources: Expert list",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:52:19.733333+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: UNC119 as ready",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:52:19.725243+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: unc119 has been classified as Red List (Low Evidence).",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:51:27.869087+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UNC119 was added\ngene: UNC119 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UNC119 were set to 22184408\nPhenotypes for gene: UNC119 were set to ?Immunodeficiency 13 MIM#615518\nReview for gene: UNC119 was set to RED\nAdded comment: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes. \nSources: Expert list",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:37:48.908449+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXN1 as ready",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:37:48.896932+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxn1 has been classified as Green List (High Evidence).",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:37:30.780311+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FOXN1 were set to 31447097; 18339010; 10206641",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:36:29.802801+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FOXN1 were set to ",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:36:09.095782+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FOXN1 as Green List (high evidence)",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:36:09.085562+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: On IUIS gene list (PMID: 32048120)",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:36:09.056458+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxn1 has been classified as Green List (High Evidence).",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:35:48.777246+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FOXN1 as Green List (high evidence)",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:35:48.772391+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: On IUIS gene list (PMID: 32048120)",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:35:48.734750+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxn1 has been classified as Green List (High Evidence).",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T12:32:50.684091+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOXN1 was added\ngene: FOXN1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert list\nMode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2021-03-18T11:18:11.372403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6766",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SIAE as ready",
"entity_name": "SIAE",
"entity_type": "gene"
},
{
"created": "2021-03-18T11:18:11.361208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6766",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: siae has been classified as Red List (Low Evidence).",
"entity_name": "SIAE",
"entity_type": "gene"
},
{
"created": "2021-03-18T11:15:44.146497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6766",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SIAE as Red List (low evidence)",
"entity_name": "SIAE",
"entity_type": "gene"
},
{
"created": "2021-03-18T11:15:44.138652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6766",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: siae has been classified as Red List (Low Evidence).",
"entity_name": "SIAE",
"entity_type": "gene"
},
{
"created": "2021-03-18T11:15:26.381766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6765",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SIAE: Rating: RED; Mode of pathogenicity: None; Publications: 20555325, 28900629, 22200769; Phenotypes: {Autoimmune disease, susceptibility to, 6} MIM#613551; Mode of inheritance: Unknown",
"entity_name": "SIAE",
"entity_type": "gene"
},
{
"created": "2021-03-18T11:00:52.178588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6765",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TAOK2 as ready",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T11:00:52.166040+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6765",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: taok2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T11:00:39.769309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6765",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TAOK2: Changed phenotypes: Generalized verrucosis, abnormal T cell activation, autism",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T11:00:06.688045+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6765",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: TAOK2 were changed from Generalized verrucosis; abnormal T cell activation to Generalized verrucosis; abnormal T cell activation; autism",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:59:28.806690+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6764",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TAOK2 as Amber List (moderate evidence)",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:59:28.743998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6764",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: taok2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:59:11.198305+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TAOK2 as ready",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:59:11.190037+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: taok2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:59:00.522786+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6763",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAOK2 was added\ngene: TAOK2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TAOK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TAOK2 were set to 28385331; 29467497\nPhenotypes for gene: TAOK2 were set to Generalized verrucosis; abnormal T cell activation\nReview for gene: TAOK2 was set to AMBER\nAdded comment: PMID: 28385331 - A single consanguineous family with generalized verrucosis and abnormal T cell activation, and a homozygous missense (p.R700C), with some assays on patient fibroblasts.\r\nPMID: 29467497 - One of the several genes in the 16p11.2 microdeletion region associated with autism. Taok2 heterozygous and knockout mice had gene dosage-dependent impairments in cognition, anxiety, social interaction, brain size, and neural connectivity. 3 de novo variants and 3 predicted loss of function variants identified in 6 unrelated autism cases. 2 of the de novo variants have supporting functional assays, but 1 of them co-occurs in an individual with a CHD8 frameshift. 1 of the predicted loss of function variants was also identified in the unaffected father and sibling. \nSources: Literature",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:58:43.395710+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TAOK2 as Amber List (moderate evidence)",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:58:43.392414+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Good mouse model, but some uncertainty in the human data",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:58:43.374042+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: taok2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:57:06.410547+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAOK2 was added\ngene: TAOK2 was added to Autism. Sources: Literature\nMode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAOK2 were set to 29467497\nPhenotypes for gene: TAOK2 were set to Autism\nReview for gene: TAOK2 was set to AMBER\nAdded comment: One of the several genes in the 16p11.2 microdeletion region associated with autism. Taok2 heterozygous and knockout mice had gene dosage-dependent impairments in cognition, anxiety, social interaction, brain size, and neural connectivity. 3 de novo variants and 3 predicted loss of function variants identified in 6 unrelated autism cases. 2 of the de novo variants have supporting functional assays, but 1 of them co-occurs in an individual with a CHD8 frameshift. 1 of the predicted loss of function variants was also identified in the unaffected father and sibling. \nSources: Literature",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:20:38.176883+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TAOK2 as ready",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:20:38.166172+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: taok2 has been classified as Red List (Low Evidence).",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T10:20:22.818906+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAOK2 was added\ngene: TAOK2 was added to Susceptibility to Viral Infections. Sources: Other\nMode of inheritance for gene: TAOK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAOK2 were set to 28385331\nPhenotypes for gene: TAOK2 were set to Generalized verrucosis; abnormal T cell activation\nReview for gene: TAOK2 was set to RED\nAdded comment: A single consanguineous family with a homozygous missense (p.R700C), and some assays on patient fibroblasts. \nSources: Other",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:59:24.474681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:59:24.467234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:59:15.396882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:58:53.313589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D2A were set to ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:58:26.101475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:58:06.706225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:57:06.081033+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:57:06.072306+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:56:57.249801+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:56:28.542493+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D2A were set to ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:55:59.756457+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:55:30.700087+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:36:36.789211+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Single family.; to: Comment when marking as ready: two families. Insufficient information available about third to be used as evidence.",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:36:11.155110+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZAP70: Changed rating: AMBER",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:35:27.969448+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZAP70 were set to 26783323",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:34:54.614059+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZAP70 as Amber List (moderate evidence)",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-18T09:34:54.605525+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
}
]
}