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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=285",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=283",
"results": [
{
"created": "2025-03-18T11:30:57.022552+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1587",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GUCY2C as ready",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2025-03-18T11:30:57.016819+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1587",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Suggest demoting to orange or red, phenotype is not severe - requires early surgical management and then results in normal growth and development",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2025-03-18T11:30:56.977387+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1587",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gucy2c has been classified as Green List (High Evidence).",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2025-03-18T11:30:27.646256+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1587",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GUCY2C were set to ",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2025-03-16T16:18:11.223542+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.432",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DZIP1 as Amber List (moderate evidence)",
"entity_name": "DZIP1",
"entity_type": "gene"
},
{
"created": "2025-03-16T16:18:11.216172+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.432",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dzip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DZIP1",
"entity_type": "gene"
},
{
"created": "2025-03-16T16:17:00.866922+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.431",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DZIP1 was added\ngene: DZIP1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: DZIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DZIP1 were set to 33811421; 31118289\nPhenotypes for gene: DZIP1 were set to mitral valve prolapse MONDO:0004910\nReview for gene: DZIP1 was set to AMBER\nAdded comment: Two unrelated families segregating 2 different missense variants (S24R - 53 hets and C585W - 12,414 alleles & 74 homs in gnomAD v4.1) with mitral valve prolapse. 2 rare missense (Pro47Leu - 10 hets & Arg267Ile - 118 hets in gnomAD v) identified in 2 unrelated sporadic MVP cases. Supporting mouse model of S24R impaired ciliogenesis during development, which progressed to adult myxomatous valve disease and functional MVP. \nSources: Literature",
"entity_name": "DZIP1",
"entity_type": "gene"
},
{
"created": "2025-03-16T16:15:41.930555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2382",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DZIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33811421, 31118289; Phenotypes: mitral valve prolapse MONDO:0004910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DZIP1",
"entity_type": "gene"
},
{
"created": "2025-03-15T20:02:34.764848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2382",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DYNC1H1 were set to 25512093; 28196890",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2025-03-15T20:02:05.694619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2381",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC1H1 were changed from Charcot-Marie-Tooth disease, axonal, type 20; Mental retardation, autosomal dominant 13; Spinal muscular atrophy, lower extremity-predominant 1 to dyneinopathy MONDO:1040031",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2025-03-15T18:01:51.919106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2380",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DUOXA2 were set to ",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2025-03-15T18:00:41.618542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2379",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUOXA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2025-03-15T17:50:33.230386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DUOXA1 were changed from congenital hypothyroidism, No OMIM # to congenital hypothyroidism MONDO:0018612",
"entity_name": "DUOXA1",
"entity_type": "gene"
},
{
"created": "2025-03-15T17:48:34.260907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2377",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DUOXA1 were set to 29650690",
"entity_name": "DUOXA1",
"entity_type": "gene"
},
{
"created": "2025-03-15T17:48:08.590858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2376",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUOXA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DUOXA1",
"entity_type": "gene"
},
{
"created": "2025-03-15T17:17:08.819840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Biallelic evidence for IBD is strong, but the evidence for the monoallelic association is limited. Semidominant inheritance for thyroid dyshormonogenesis.",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2025-03-15T17:17:08.801924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUOX2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:19:35.820091+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: LINC01578.",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:19:20.325742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: LINC01578.",
"entity_name": "LINC01578",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:18:51.588608+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORA31.",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:18:40.177796+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNORA31 as ready",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:18:40.171129+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snora31 has been classified as Green List (High Evidence).",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:18:33.373047+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORA31.",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:18:19.311383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORA31.",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:17:34.851050+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR96.",
"entity_name": "MIR96",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:17:18.266324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR96.",
"entity_name": "MIR96",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:16:57.799580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR936.",
"entity_name": "MIR936",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:16:35.468767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR5004.",
"entity_name": "MIR5004",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:16:14.823700+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR204.",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:16:04.574567+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR204.",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:15:48.692214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR204.",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:15:24.893098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR184.",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:15:11.896075+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR184.",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:14:48.047055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR183.",
"entity_name": "MIR183",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:14:24.523593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR182.",
"entity_name": "MIR182",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:13:25.554716+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR17HG.",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:13:12.675208+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR17HG.",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:12:59.175704+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR17HG.",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:12:43.982232+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR17HG.",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:12:23.917672+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR145.",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:12:09.561644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR145.",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:11:48.070132+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR140.",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:11:31.380481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: MIR140.",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:10:07.455076+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:09:49.816428+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:09:30.438170+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:09:07.400510+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:08:24.810302+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPO4 as ready",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:08:24.800719+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo4 has been classified as Green List (High Evidence).",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:08:20.888510+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPO4 as Green List (high evidence)",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:08:20.879504+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo4 has been classified as Green List (High Evidence).",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:07:46.015199+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RMRP as ready",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:07:46.009025+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:07:43.493678+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RMRP were changed from Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia to Cartilage hair hypoplasia (CHH) MIM#250250; Anauxetic dysplasia 1, MIM# 607095; Metaphyseal dysplasia without hypotrichosis, MIM# 250460",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:07:30.478490+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RMRP were set to ",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:07:21.202128+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:07:03.653361+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RMRP as ready",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:07:03.642895+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:07:00.087630+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RMRP were set to ",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:06:36.776810+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:06:22.727847+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:06:09.219096+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:05:57.221665+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:05:30.710285+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:05:18.341993+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:05:07.310645+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RMRP as ready",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:05:07.300431+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:05:04.277124+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RMRP were changed from to Anauxetic dysplasia 1, MIM#607095",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:04:38.466873+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:04:18.800785+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RMRP.",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:03:50.316101+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:03:29.862171+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERC as ready",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:03:29.855171+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: terc has been classified as Green List (High Evidence).",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:03:25.950678+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:03:19.488640+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:03:13.150275+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:03:00.244439+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:02:43.524595+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERC as ready",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:02:43.517123+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: terc has been classified as Green List (High Evidence).",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:02:41.050607+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:02:19.701405+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TERC were set to ",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:01:58.558372+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:01:36.607320+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:01:28.376848+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TERC: Changed phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:01:11.018086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:00:54.848169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:00:35.712417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TERC: Changed phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T16:00:20.178018+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:59:52.201290+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:59:43.384256+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TERC: Changed phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:58:59.933109+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU2-2P.",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:58:47.476981+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU2-2P.",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:58:32.450164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU2-2P.",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:58:11.196971+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORD118.",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:57:38.603053+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORD118.",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:57:06.861690+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORD118.",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:56:52.090027+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORD118.",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:56:39.457175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORD118.",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:56:25.939008+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORD118.",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2025-03-14T15:56:10.635988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: SNORD118.",
"entity_name": "SNORD118",
"entity_type": "gene"
}
]
}