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{
"count": 220467,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1282",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1280",
"results": [
{
"created": "2021-07-02T11:44:51.738285+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnu12 has been classified as Red List (Low Evidence).",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-02T11:38:13.810478+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNU12 was added\ngene: RNU12 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU12 were set to 34085356\nPhenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations\nReview for gene: RNU12 was set to GREEN\nAdded comment: 5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events. Craniosynostosis is a major feature of the condition. \nSources: Literature",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-02T11:35:57.861717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RNU12 as ready",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-02T11:35:57.839748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnu12 has been classified as Green List (High Evidence).",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-02T11:34:37.923431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RNU12 as Green List (high evidence)",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-02T11:34:37.914017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnu12 has been classified as Green List (High Evidence).",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-02T11:31:26.078732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNU12 was added\ngene: RNU12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU12 were set to 34085356; 27863452\nPhenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations\nReview for gene: RNU12 was set to GREEN\nAdded comment: 5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events. Also, limited evidence for an association with cerebellar ataxia with a single large consanguineous family reported with a homozygous variant. \nSources: Literature",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2021-07-02T10:43:13.644406+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.28",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KMT2E was added\ngene: KMT2E was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KMT2E were set to PMID: 31079897; 33111303\nPhenotypes for gene: KMT2E were set to O'Donnell-Luria-Rodan syndrome MIM#618512\nMode of pathogenicity for gene: KMT2E was set to Other\nReview for gene: KMT2E was set to GREEN\nAdded comment: PMID: 31079897: microcephaly was reported in 2/3 patients with de novo missense variants\r\n\r\nPMID: 33111303: also reports patients with missense variants and microcephaly\r\n\r\nPotentially alternative mechanism due to the more severe presentation \nSources: Literature",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:12:19.383763+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FHOD3 as ready",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:12:19.373494+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fhod3 has been classified as Green List (High Evidence).",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:11:57.959808+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:11:38.552372+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FHOD3 were set to ",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:11:15.687910+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FHOD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:11:04.426305+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32335906, 31742804, 30442288; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:10:07.953411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FHOD3 as ready",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:10:07.944499+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fhod3 has been classified as Green List (High Evidence).",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:10:00.637206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FHOD3 were changed from to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:09:40.027184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FHOD3 were set to ",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:09:19.027840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FHOD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:09:02.112208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: FHOD3.",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T20:08:50.819496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32335906, 31742804, 30442288; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T11:30:19.698492+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T11:29:42.581252+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2021-07-01T11:28:29.660683+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R21 as ready",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2021-07-01T11:28:29.651117+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r21 has been classified as Green List (High Evidence).",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2021-07-01T11:28:21.376131+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R21 as Green List (high evidence)",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2021-07-01T11:28:21.367142+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r21 has been classified as Green List (High Evidence).",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2021-07-01T11:28:08.545267+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP1R21 was added\ngene: PPP1R21 was added to Leukodystrophy - paediatric. Sources: Expert Review\nMode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R21 were set to 30520571\nPhenotypes for gene: PPP1R21 were set to Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383; Hypotonia; intellectual disability; white matter abnormalities\nReview for gene: PPP1R21 was set to GREEN\nAdded comment: At least four unrelated families reported. \nSources: Expert Review",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2021-07-01T11:26:15.878813+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R21 were changed from Hypotonia; intellectual disability; white matter abnormalities to Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM#\t619383; Hypotonia; intellectual disability; white matter abnormalities",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2021-07-01T11:25:49.244308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPP1R21: Changed phenotypes: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383, Hypotonia, intellectual disability, white matter abnormalities",
"entity_name": "PPP1R21",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:35:45.433054+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ16 as ready",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:35:45.407205+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj16 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:34:27.238109+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ16 as Green List (high evidence)",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:34:27.228186+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj16 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:33:23.027758+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ16 was added\ngene: KCNJ16 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNJ16 were set to 33811157; 33840812\nPhenotypes for gene: KCNJ16 were set to Renal tubulopathy; deafness\nReview for gene: KCNJ16 was set to GREEN\nAdded comment: 8 unrelated families reported. \nSources: Literature",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:32:51.006246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ16 as ready",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:32:50.994428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj16 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:29:40.222056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ16 as Green List (high evidence)",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:29:40.213354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj16 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:29:19.001448+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ16 was added\ngene: KCNJ16 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNJ16 were set to 33811157; 33840812\nPhenotypes for gene: KCNJ16 were set to Renal tubulopathy; deafness\nReview for gene: KCNJ16 was set to GREEN\nAdded comment: 8 unrelated families reported. \nSources: Literature",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:10:59.947079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL7 as ready",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:10:59.930233+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl7 has been classified as Green List (High Evidence).",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:10:51.618650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL7 were changed from to PERCHING syndrome (MIM#617055); Retinitis pigmentosa 42 (MIM#612943)",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:10:30.930094+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL7 were set to ",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:10:03.616597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL7 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:08:32.545044+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC34A3 as ready",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:08:32.533365+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc34a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:08:29.242080+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC34A3 were changed from to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:07:59.857074+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC34A3 were set to ",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:07:30.506111+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC34A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:07:00.277021+10:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32524022; Phenotypes: Hypophosphataemic rickets with hypercalciuria, (MIM#241530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:05:49.405957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC34A3 as ready",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:05:49.395366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc34a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:05:41.433772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC34A3 were changed from to Hypophosphatemic rickets with hypercalciuria, (MIM#241530)",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:05:19.227166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC34A3 were set to ",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:05:01.570195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC34A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:04:21.681453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNC as ready",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:04:21.670914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:04:12.991633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNC were changed from to Deafness, autosomal dominant 56, MIM# 615629",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:03:53.954392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNC were set to ",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:03:36.014350+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:03:12.735840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNC as Amber List (moderate evidence)",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:03:12.726753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:02:54.768159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNC: Rating: AMBER; Mode of pathogenicity: None; Publications: 23936043, 34093110, 33763067; Phenotypes: Deafness, autosomal dominant 56, MIM# 615629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNC",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:00:47.541732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPK4 as ready",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:00:47.519267+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk4 has been classified as Green List (High Evidence).",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-30T18:00:40.536877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIPK4 were changed from to Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-30T17:58:54.128387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIPK4 were set to ",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-30T17:58:33.765691+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIPK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-30T17:58:15.731132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940926, 22197489, 22197488; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-30T17:57:12.721144+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPK4 as ready",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-30T17:57:12.710386+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk4 has been classified as Green List (High Evidence).",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-30T15:34:36.838473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8145",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953236, 30300710, 31856884; Phenotypes: PERCHING syndrome (MIM#617055), Retinitis pigmentosa 42 (MIM#612943); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:36:47.755626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8145",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32524022; Phenotypes: Hypophosphatemic rickets with hypercalciuria, (MIM#241530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2021-06-29T13:31:17.220175+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-06-29T13:27:54.900611+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-06-29T13:14:26.868967+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-06-29T08:04:02.012418+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.133",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RIPK4 as Green List (high evidence)",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-29T08:04:01.995270+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.133",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ripk4 has been classified as Green List (High Evidence).",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-29T08:04:01.410511+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.132",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RIPK4 as Green List (high evidence)",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-29T08:04:01.398471+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.132",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ripk4 has been classified as Green List (High Evidence).",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-29T08:03:38.631651+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.131",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RIPK4 was added\ngene: RIPK4 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIPK4 were set to PMID: 28940926; 22197489; 22197488\nPhenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650\nReview for gene: RIPK4 was set to GREEN\ngene: RIPK4 was marked as current diagnostic\nAdded comment: Clefting well associated with this syndrome \nSources: Literature",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:53:59.268195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP290 as ready",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:53:59.258144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Green List (High Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:53:47.733331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP290 were changed from to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:53:27.646142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP290 were set to ",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:53:08.339210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:52:47.514785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 18327255, 20690115, 16682973, 16682970, 17564967, 16909394, 17564974; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:51:51.813319+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP290 as ready",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:51:51.801981+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Green List (High Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:51:27.143337+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP290 were changed from to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:50:57.642066+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP290 were set to ",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:50:36.047134+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:49:56.375872+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene cause a range of ciliopathies. The association with BBS is rare.; to: Variants in this gene cause a range of ciliopathies.",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:49:48.131973+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP290: Changed publications: 18327255, 20690115, 16682973, 16682970, 17564967, 16909394, 17564974; Changed phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:46:51.054924+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP164 as ready",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:46:51.043373+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep164 has been classified as Green List (High Evidence).",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:46:47.644704+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:46:24.898793+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP164 were set to ",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2021-06-27T15:45:51.720609+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CEP164",
"entity_type": "gene"
}
]
}