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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=605",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=603",
"results": [
{
"created": "2023-05-05T11:25:10.680760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC4A2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:24:52.309327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC4A2 as Amber List (moderate evidence)",
"entity_name": "SLC4A2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:24:52.300467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC4A2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:22:04.023479+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC4A2 as Amber List (moderate evidence)",
"entity_name": "SLC4A2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:22:04.012100+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC4A2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:21:37.571603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A2 was added\ngene: SLC4A2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC4A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A2 were set to 34668226; 20507629\nPhenotypes for gene: SLC4A2 were set to Osteopetrosis, autosomal recessive 9, MIM# \t620366\nReview for gene: SLC4A2 was set to AMBER\nAdded comment: Single individual reported with homozygous missense variant. However, cattle and mouse models support gene-disease association. \nSources: Literature",
"entity_name": "SLC4A2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:20:35.705656+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DNM2 was added\ngene: DNM2 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DNM2 were set to 17932957; 19122038\nPhenotypes for gene: DNM2 were set to Centronuclear Myopathy 1 (MIM#160150; MONDO:0008048)\nReview for gene: DNM2 was set to GREEN\nAdded comment: PMID: 17932957, 19122038\r\nMultiple individuals with centronuclear myopathy. \r\nAge of onset is variable but typically in the early childhood. \nSources: Other",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2023-05-05T11:20:16.050048+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A2 was added\ngene: SLC4A2 was added to Osteopetrosis. Sources: Literature\nMode of inheritance for gene: SLC4A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A2 were set to 34668226; 20507629\nPhenotypes for gene: SLC4A2 were set to Osteopetrosis, autosomal recessive 9, MIM# \t620366\nReview for gene: SLC4A2 was set to AMBER\nAdded comment: Single individual reported with homozygous missense variant. However, cattle and mouse models support gene-disease association. \nSources: Literature",
"entity_name": "SLC4A2",
"entity_type": "gene"
},
{
"created": "2023-05-05T10:58:34.621498+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DNAJB4 was added\ngene: DNAJB4 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJB4 were set to 36264506\nPhenotypes for gene: DNAJB4 were set to Congenital Myopathy 21 with early respiratory failure (MIM#620326; MONDO:005336)\nReview for gene: DNAJB4 was set to GREEN\nAdded comment: PMID: 36264506\r\n4 individuals from unrelated families with congenital myopathy with variable age of onset \nSources: Other",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2023-05-05T10:51:31.545667+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.172",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DOCK2 as ready",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2023-05-05T10:51:31.532111+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.172",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dock2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2023-05-05T10:03:51.542385+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: C17orf62 as ready",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2023-05-05T10:03:51.525973+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c17orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2023-05-05T09:56:15.178809+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.172",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK2 were changed from HLH to Genetic hemophagocytic lymphohistiocytosis MONDO:0015541",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2023-05-05T09:55:29.870612+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.171",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DOCK2 as Amber List (moderate evidence)",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2023-05-05T09:55:29.858172+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.171",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dock2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DOCK2",
"entity_type": "gene"
},
{
"created": "2023-05-05T09:47:49.074552+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: C17orf62 as Amber List (moderate evidence)",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2023-05-05T09:47:49.064547+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c17orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2023-05-05T09:25:50.746657+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: BIN1 was added\ngene: BIN1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: BIN1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: BIN1 were set to 17676042; 29950440\nPhenotypes for gene: BIN1 were set to Centronuclear myopathy 2 (MONDO: 0009709; MIM#255200)\nReview for gene: BIN1 was set to GREEN\nAdded comment: PMID: 17676042\r\n3 unrelated consanguineous families with centronuclear myopathy 2. \r\nAge of onset ranged from birth to childhood\r\n\r\nPMID: 29950440\r\nHomozygous patients have a more specific and severe phenotype compared to compound heterozygous patients with similar age of onset \nSources: Other",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:19:27.271875+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZCCHC8 as ready",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:19:27.263938+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zcchc8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:19:15.877940+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZCCHC8 as Amber List (moderate evidence)",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:19:15.867489+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zcchc8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:18:49.833770+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZCCHC8 was added\ngene: ZCCHC8 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZCCHC8 were set to 31488579\nPhenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148\nReview for gene: ZCCHC8 was set to AMBER\nAdded comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model. \nSources: Literature",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:16:29.476777+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ZCCHC8 were changed from Pulmonary fibrosis to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:15:57.940894+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ZCCHC8: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:15:03.630448+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.862",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ZCCHC8 were changed from Pulmonary fibrosis to pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:14:40.454967+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.861",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ZCCHC8: Changed phenotypes: pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148",
"entity_name": "ZCCHC8",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:03:47.585939+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NOP10 as Amber List (moderate evidence)",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:03:47.574706+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nop10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:03:20.856683+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: None; Publications: 17507419, 32554502; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230, Telomere syndrome MONDO:0100137; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:00:35.806707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.861",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1, MIM#224230 to Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Telomere syndrome MONDO:0100137",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-05-04T20:00:14.287872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.860",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NOP10 were set to 17507419",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-05-04T19:59:45.617570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.859",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NOP10 as Amber List (moderate evidence)",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-05-04T19:59:45.608293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.859",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nop10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-05-04T19:59:25.422630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.858",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: None; Publications: 17507419, 32554502; Phenotypes: Telomere syndrome MONDO:0100137; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-05-04T19:00:54.930236+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACD as ready",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T19:00:54.921915+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acd has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:29:46.308855+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACD as Amber List (moderate evidence)",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:29:46.298719+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acd has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:29:21.021270+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACD was added\ngene: ACD was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: ACD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACD were set to 31515401; 27807141; 25205116\nPhenotypes for gene: ACD were set to pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148\nMode of pathogenicity for gene: ACD was set to Other\nReview for gene: ACD was set to AMBER\nAdded comment: 3 probands reported with heterozygous variants (only 2 of the variants including p.Lys170 look to possibly relevant)\r\nPMID: 31515401 - proband 1 with bone marrow failure and pulmonary fibrosis in the context of a telomere syndrome heterozygous for recurrent p.Lys170del. Proband 2 with idiopathic pulmonary fibrosis heterozygous for p.Lys170Glu. Proband 3 with idiopathic pulmonary fibrosis heterozygous for p.Ala72Glu (9 hets in gnomAD - VUS), which was also found in the unaffected 83 yo father. All patients had a leukocyte telomere length <1st percentiles for age.\r\nPMID: 27807141 - in vitro functional assays suggesting that the recurrent variant p.Lys170del is sufficient to cause the cellular underpinnings of dyskeratosis congenita, acting in a dosage-dependent mechanism rather than dominant-negative.\r\nPMID: 25205116 - Lys170del identified in 18-yo proband, mother, and maternal grandmother presented with bone marrow failure of varying severity, and decreasing ages of presentation in successive generations. All with short telomeres. In vitro assays demonstrate the variant localises to telomeres but fails to recruit telomerase to telomeres. \nSources: Literature",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:22:33.360524+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ACD were changed from Dyskeratosis congenita, MIM# 616553 to telomere syndrome MONDO:0100137; dyskeratosis congenita, autosomal dominant 6 MONDO:0014690; Hoyeraal-Hreidarsson syndrome MONDO:0018045",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:21:23.070293+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ACD were set to 25205116; 25233904",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:20:42.305219+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACD as Green List (high evidence)",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:20:42.290335+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acd has been classified as Green List (High Evidence).",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:20:01.530430+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27807141, 31515401, 30995915, 27528712, 25205116, 24316971, 30064976, 33446513, 25233904; Phenotypes: telomere syndrome MONDO:0100137, dyskeratosis congenita, autosomal dominant 6 MONDO:0014690, Hoyeraal-Hreidarsson syndrome MONDO:0018045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:19:38.551381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.858",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ACD were changed from Dyskeratosis congenita, MIM# 616553 to telomere syndrome MONDO:0100137; dyskeratosis congenita, autosomal dominant 6 MONDO:0014690; Hoyeraal-Hreidarsson syndrome MONDO:0018045",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:19:14.674678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.857",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ACD were set to 25205116; 25233904",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:17:54.304119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.856",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACD as Green List (high evidence)",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:17:54.296196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.856",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acd has been classified as Green List (High Evidence).",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T18:17:31.893566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.855",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27807141, 31515401, 30995915, 27528712, 25205116, 24316971, 30064976, 33446513, 25233904; Phenotypes: telomere syndrome MONDO:0100137, dyskeratosis congenita, autosomal dominant 6 MONDO:0014690, Hoyeraal-Hreidarsson syndrome MONDO:0018045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2023-05-04T17:04:52.285438+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ADSSL1 was added\ngene: ADSSL1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADSSL1 were set to PMID: 3650622; 28268051; 32646962\nPhenotypes for gene: ADSSL1 were set to Myopathy Distal 5 (MONDO:0014877; MIM#617030)\nReview for gene: ADSSL1 was set to GREEN\nAdded comment: PMID: 3650622; 28268051\r\nAge of onset 13-17 years in multiple individuals of unrelated families\r\n\r\nPMID: 32646962 - Multiple individuals diagnosed with distal myopathy 5 (MD5) \nSources: Other",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:47:29.138365+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ATP6 as ready",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:47:29.129760+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp6 has been classified as Red List (Low Evidence).",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:47:26.667699+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-ATP6 were changed from Leigh syndrome, MIM# 256000 to Leigh syndrome, MONDO:0009723",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:46:54.069469+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-ATP6 as Red List (low evidence)",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:46:54.061375+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp6 has been classified as Red List (Low Evidence).",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:46:13.305890+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome, MONDO:0009723; Mode of inheritance: MITOCHONDRIAL",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:43:40.047966+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAS as ready",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:43:40.039911+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnas has been classified as Green List (High Evidence).",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:43:36.217433+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAS as Green List (high evidence)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:43:36.205671+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnas has been classified as Green List (High Evidence).",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:42:36.176799+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOCS1 as ready",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:42:36.167104+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:42:32.406252+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MOCS1 as Amber List (moderate evidence)",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:42:32.394350+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:41:59.262493+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:40:45.909353+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISG15 as ready",
"entity_name": "ISG15",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:40:45.900439+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: isg15 has been classified as Green List (High Evidence).",
"entity_name": "ISG15",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:40:41.401805+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ISG15 as Green List (high evidence)",
"entity_name": "ISG15",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:40:41.390089+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: isg15 has been classified as Green List (High Evidence).",
"entity_name": "ISG15",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:39:49.267753+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNA1 as ready",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:39:49.238122+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Red List (Low Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:39:45.696483+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLXNA1 as Red List (low evidence)",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:39:45.683908+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Red List (Low Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:38:33.534980+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM6 as ready",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:38:33.525862+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm6 has been classified as Red List (Low Evidence).",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:38:28.489122+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM6 as Red List (low evidence)",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:38:28.477673+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm6 has been classified as Red List (Low Evidence).",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-05-04T16:37:15.041835+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.128",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ACTN2 was added\ngene: ACTN2 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ACTN2 were set to 30701273\nPhenotypes for gene: ACTN2 were set to Congenital Myopathy 8 (MIM#618654; MONDO: 0032852)\nPenetrance for gene: ACTN2 were set to unknown\nReview for gene: ACTN2 was set to GREEN\nAdded comment: PMID: 30701273 \r\n2 unrelated individuals with congenital myopathy plus an in vivo zebrafish model showed a loss in protein function resulting in zebrafish embryo hatching defect and impaired motor function. \r\n- Age of onset in both individuals was in the first decade of life \nSources: Other",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:53:33.902278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.855",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: RRAGC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:37057673, 27234373, 33057194; Phenotypes: Dilated cardiomyopathy (MONDO:0005021), RRAGC-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAGC",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:51:46.550223+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.157",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: RRAGC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:37057673, 27234373, 33057194; Phenotypes: Dilated cardiomyopathy (MONDO:0005021), RRAGC-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAGC",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:40:09.989948+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS11 were changed from Global developmental delay; launguage delay; intellectual disability; impaired motor development; brain atrophy to intellectual disability, MONDO:0001071",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:38:47.339197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:38:08.949012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCAT were changed from progressive autosomal recessive optic neuropathy to Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:36:11.376369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH7 were changed from non-syndromic male infertility due to sperm motility disorder (MONDO#0017173), DNAH7-related to Primary ciliary dyskinesia, MONDO:0016575, DNAH7-related",
"entity_name": "DNAH7",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:35:44.942177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, MONDO:0016575, DNAH7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH7",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:35:15.975024+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH7 were changed from non-syndromic male infertility due to sperm motility disorder (MONDO#0017173), DNAH7-related to Primary ciliary dyskinesia, MONDO:0016575, DNAH7-related",
"entity_name": "DNAH7",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:35:13.179087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: RARA: PMID: 37086723 identified a recurrent, heterozygous de novo missense variant in the RARA gene - c.865G>A; (p.Gly289Arg) - in two unrelated individuals. The variant is absent from gnomAD, highly conserved, major grantham score (125) and is located in the hormone receptor domain (DECIPHER).\r\n\r\nBoth individuals had severe craniosynostosis (sagittal or bicoronal).\r\n\r\nOther shared phenotypic features included:\r\n- Limb anomalies (rocker-bottom feet, bowing of the legs, and short upper/lower limbs)\r\n- Additional craniofacial manifestations(microtia, conductive hearing loss, ankyloglossia, esotropia, hypoplastic\r\nnasal bones, and oligodontia)\r\n- Other additional anomalies included renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures and adrenal insufficiency.\r\n\r\nThe authors postulate a gain of function mechanism. No functional studies provided. The gene encodes the retinoic acid receptor. Overlapping phenotypic features in these 2 affected individuals with retinoic acid embryopathy noted by the authors.",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:34:39.615788+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, MONDO:0016575, DNAH7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH7",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:30:59.749486+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.17",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "changed review comment from: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients had optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356. \r\nSources: Literature; to: 9 individuals form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients had optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356. \r\nSources: Literature",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:30:55.313527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RARA were changed from Syndromic chorioretinal coloboma to Craniosynostosis - MONDO:0015469; Syndromic chorioretinal coloboma",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:30:34.361822+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RARA were set to 31343737",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:30:07.633619+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RARA as Amber List (moderate evidence)",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:30:07.625540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rara has been classified as Amber List (Moderate Evidence).",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:29:45.391924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RARA: Added comment: PMID: 37086723 identified a recurrent, heterozygous de novo missense variant in the RARA gene - c.865G>A; (p.Gly289Arg) - in two unrelated individuals. The variant is absent from gnomAD, highly conserved, major grantham score (125) and is located in the hormone receptor domain (DECIPHER).\r\n\r\nBoth individuals had severe craniosynostosis (sagittal or bicoronal).\r\n\r\nOther shared phenotypic features included:\r\n- Limb anomalies (rocker-bottom feet, bowing of the legs, and short upper/lower limbs)\r\n- Additional craniofacial manifestations(microtia, conductive hearing loss, ankyloglossia, esotropia, hypoplastic\r\nnasal bones, and oligodontia)\r\n- Other additional anomalies included renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures and adrenal insufficiency.\r\n\r\nThe authors postulate a gain of function mechanism. No functional studies provided. The gene encodes the retinoic acid receptor. Overlapping phenotypic features in these 2 affected individuals with retinoic acid embryopathy noted by the authors.; Changed rating: AMBER; Changed publications: 31343737, 37086723; Changed phenotypes: Craniosynostosis - MONDO:0015469, Syndromic chorioretinal coloboma; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:26:44.344042+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA12 as ready",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:26:44.332922+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:26:38.672555+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA12 as Green List (high evidence)",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2023-05-04T13:26:38.655616+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
}
]
}