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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=878",
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"results": [
{
"created": "2022-04-20T14:18:11.176764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAM58A were changed from to syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:16:28.153259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAM58A were set to ",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2022-04-20T14:03:45.875415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13101",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: None; Publications: 20655036; Phenotypes: Retinitis pigmentosa 57 - MIM#613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:56:27.309027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13101",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone dystrophy 4 - MIM#613093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:54:10.571131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13101",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM58A was changed from Unknown to Other",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:53:18.547675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13100",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8394174, 8075643, 17044014, 7599633, 18854872; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500, Retinitis pigmentosa-40 - MIM#613801; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:49:33.629843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13100",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21039428, 17110911, 7493036; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:47:05.770573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297069, 8818947, 28322501, 8818947; Phenotypes: syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408; Mode of inheritance: Other; Current diagnostic: yes",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:46:17.064664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM161A as ready",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:46:17.041041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam161a has been classified as Green List (High Evidence).",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:46:07.542168+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4684",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24203977, 22464250; Phenotypes: Acrodysostosis 2, with or without hormone resistance - MIM#614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:45:26.384869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13100",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24203977, 22464250; Phenotypes: Acrodysostosis 2, with or without hormone resistance-MIM#614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:42:11.318675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13100",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertension and brachydactyly syndrome - MIM#112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:40:34.289932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13100",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDE11A: Rating: RED; Mode of pathogenicity: None; Publications: 16767104, 18559625, 21047926, 17178847; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:39:56.333305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAM161A were changed from to retinitis pigmentosa 28 MONDO:0011630",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:37:54.689935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13099",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAM161A were set to ",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:30:32.982904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13098",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM161A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:24:04.112501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13097",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20705278, 20705279, 31236346, 24833722; Phenotypes: retinitis pigmentosa 28 MONDO:0011630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:23:13.914254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13097",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM126A as ready",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:23:13.902203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13097",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam126a has been classified as Green List (High Evidence).",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:20:31.756811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13097",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAM126A were set to ",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:04:38.499137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13096",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454, 12503095, 22791840, 19057928, 19533790; Phenotypes: Holoprosencephaly 3, MIM#142945, Microphthalmia with coloboma 5, MIM#611638, Schizencephaly, MIM#269160, Single median maxillary central incisor, MIM#147250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:31:23.552209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13096",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAM126A were changed from to hypomyelinating leukodystrophy 5 MONDO:0012514",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:15:38.410492+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13095",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16951682, 21911699, 23998934, 22749724; Phenotypes: hypomyelinating leukodystrophy 5 MONDO:0012514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:13:58.901396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13095",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:04:35.710321+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM111B as ready",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:04:35.694794+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam111b has been classified as Green List (High Evidence).",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:04:22.184535+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAM111B as Green List (high evidence)",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:04:22.172357+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam111b has been classified as Green List (High Evidence).",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:03:51.154073+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FAM111B was added\ngene: FAM111B was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAM111B were set to 24268661; 26471370; 26495788; 27406236\nPhenotypes for gene: FAM111B were set to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310\nMode of pathogenicity for gene: FAM111B was set to Other\nReview for gene: FAM111B was set to GREEN\ngene: FAM111B was marked as current diagnostic\nAdded comment: >10 families/cases reported with fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. The condition is characterised by the skin findings of poikiloderma, hypohidrosis, hypotrichosis , mild lymphedema of the extremities, chronic erythematous and scaly skin lesions on the extremities, sclerosis of the digits, and mild palmoplantar keratoderma. Mechanism of disease is unknown, but is expected to be dominant-negative effect. \nSources: Literature",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:03:31.389408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13094",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM111B as ready",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:03:31.376373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13094",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam111b has been classified as Green List (High Evidence).",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:01:20.143051+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM111B as ready",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:01:20.130340+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam111b has been classified as Green List (High Evidence).",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T12:01:17.422949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13094",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAM111B were changed from to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:56:39.809970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13093",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAM111B were set to ",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:54:34.116189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13092",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FAM111B was changed from to Other",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:54:21.781388+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAM111B as Green List (high evidence)",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:54:21.759021+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam111b has been classified as Green List (High Evidence).",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:54:12.949185+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FAM111B was added\ngene: FAM111B was added to Hair disorders. Sources: Literature\nMode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAM111B were set to 24268661; 26471370; 26495788; 27406236\nPhenotypes for gene: FAM111B were set to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310\nMode of pathogenicity for gene: FAM111B was set to Other\nReview for gene: FAM111B was set to GREEN\ngene: FAM111B was marked as current diagnostic\nAdded comment: >10 families/cases reported with fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Hypotrichosis with sparse scalp hair, sparse or absent eyelashes and/or eyebrows is a prominent feature of the condition. Mechanism of disease is unknown, but is expected to be dominant-negative effect. \nSources: Literature",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:51:40.513291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13091",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM111B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:46:11.867588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13090",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FAM111B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:42:43.425659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13090",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAM111B: Rating: ; Mode of pathogenicity: Other; Publications: 24268661, 26471370, 26495788, 27406236; Phenotypes: hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:34:25.766593+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.163",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381256, 22640988, 20301316, 22153076; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:28:52.214036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13090",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM111A as ready",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:28:52.202557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13090",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam111a has been classified as Green List (High Evidence).",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:27:17.928040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13090",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAM111A were changed from to autosomal dominant Kenny-Caffey syndrome MONDO:0007478",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:24:53.750277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13089",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAM111A were set to ",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:22:23.730239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13088",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FAM111A was changed from to Other",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:19:52.073208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM111A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2022-04-20T11:15:22.637083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13086",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAM111A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23684011, 32996714, 32765931, 33010201; Phenotypes: autosomal dominant Kenny-Caffey syndrome MONDO:0007478; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:55:38.478085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13086",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FADD as ready",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:55:38.463158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13086",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fadd has been classified as Green List (High Evidence).",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:53:25.544253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13086",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FADD were changed from to FADD-related immunodeficiency MONDO:0013408",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:53:10.069240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAH as ready",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:53:10.058755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:51:15.834861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FADD were set to ",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:50:49.569787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13084",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAH were changed from to Tyrosinemia type I MONDO:0010161",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:49:38.892999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13083",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAH were set to ",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:47:23.385444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13082",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:39:45.659229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13081",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8253378, 1401056, 8364576, 8318997, 25681080; Phenotypes: Tyrosinemia type I MONDO:0010161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:31:46.201684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13081",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:19:50.040323+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAH were changed from to Tyrosinemia, type I, MIM# 276700",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:19:48.024479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13080",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21109225, 25794656, 32350755, 32971525; Phenotypes: FADD-related immunodeficiency MONDO:0013408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:19:09.063154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13080",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381256, 22640988, 20301316, 22153076; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:16:50.451362+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:14:57.066847+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FADD as ready",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:14:57.054366+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fadd has been classified as Green List (High Evidence).",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:13:57.800958+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FADD were changed from to FADD-related immunodeficiency MONDO:0013408",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:13:26.768623+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FADD were set to ",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:12:41.836116+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T10:11:58.453330+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21109225, 25794656, 32350755, 32971525; Phenotypes: FADD-related immunodeficiency MONDO:0013408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FADD",
"entity_type": "gene"
},
{
"created": "2022-04-20T08:43:15.697891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13080",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: F12 as ready",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-20T08:43:15.686220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13080",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: f12 has been classified as Green List (High Evidence).",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-20T08:41:26.264395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13080",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: F12 were changed from to Hereditary angioedema type 3 MONDO:0012526",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-20T08:40:04.806879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13079",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: F12 were set to ",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:59:45.303893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMP as ready",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:59:45.288313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomp has been classified as Green List (High Evidence).",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:58:56.755066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMP were changed from to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Proteasome-associated autoinflammatory syndrome 2, MIM# 618048",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:58:31.629077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMP were set to ",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:58:06.646441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:57:45.379420+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: POMP.",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:57:30.514709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20226437, 27503413, 29805043; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952, Proteasome-associated autoinflammatory syndrome 2, MIM# 618048; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:54:36.265752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:54:36.254062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Green List (High Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:54:26.227655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:54:03.185235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:53:42.124486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:52:25.164402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:52:25.145415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Green List (High Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:52:07.371218+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:51:42.128134+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:51:21.354290+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POMT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:50:58.969925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:49:40.720739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPARA as ready",
"entity_name": "PPARA",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:49:40.709020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppara has been classified as Red List (Low Evidence).",
"entity_name": "PPARA",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:49:31.506222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPARA were changed from to {Hyperapobetalipoproteinemia, susceptibility to}",
"entity_name": "PPARA",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:49:05.224504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPARA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPARA",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:48:44.700253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPARA as Red List (low evidence)",
"entity_name": "PPARA",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:48:44.688665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppara has been classified as Red List (Low Evidence).",
"entity_name": "PPARA",
"entity_type": "gene"
}
]
}