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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1487",
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"results": [
{
"created": "2020-12-05T11:20:37.426405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:20:19.906775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3B as Green List (high evidence)",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:20:19.895048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3b has been classified as Green List (High Evidence).",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:19:57.427455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: H3F3B: Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:18:52.811127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: H3F3A as ready",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:18:52.801496+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3a has been classified as Green List (High Evidence).",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:18:48.536672+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3A as Green List (high evidence)",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:18:48.526553+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3a has been classified as Green List (High Evidence).",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:18:19.618418+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: H3F3A was added\ngene: H3F3A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: H3F3A were set to 33268356\nPhenotypes for gene: H3F3A were set to Intellectual disability; regression; seizures\nReview for gene: H3F3A was set to GREEN\nAdded comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%. \nSources: Literature",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:16:55.182160+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:16:19.031788+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: H3F3A were set to ",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:15:48.083340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:15:15.340903+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3A as Green List (high evidence)",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:15:15.333237+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3a has been classified as Green List (High Evidence).",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:14:43.086577+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: H3F3A: Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:14:01.383035+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:13:34.073621+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: H3F3A were set to ",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:13:05.714147+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:12:37.555423+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3A as Green List (high evidence)",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:12:37.545301+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3a has been classified as Green List (High Evidence).",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:12:08.558153+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: H3F3A: Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:10:52.737014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:10:36.372090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: H3F3A were set to ",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:07:17.724782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:07:00.228010+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3A as Green List (high evidence)",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:07:00.218030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3a has been classified as Green List (High Evidence).",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:06:32.115621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: H3F3A: Changed phenotypes: Intellectual disability, regression, seizures",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:06:01.476040+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: H3F3A: Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-12-04T18:47:33.402966+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37431-Loss as ready",
"entity_name": "ISCA-37431-Loss",
"entity_type": "region"
},
{
"created": "2020-12-04T18:47:33.392167+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37431-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37431-Loss",
"entity_type": "region"
},
{
"created": "2020-12-04T18:45:36.761791+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37431-Loss as Green List (high evidence)",
"entity_name": "ISCA-37431-Loss",
"entity_type": "region"
},
{
"created": "2020-12-04T18:45:36.754208+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37431-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37431-Loss",
"entity_type": "region"
},
{
"created": "2020-12-04T18:45:28.211159+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome\nReview for Region: ISCA-37431-Loss was set to GREEN\nAdded comment: Approximately 5 to 20% of all individuals with NF1 have a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions. The 'NF1 microdeletion syndrome' is often characterised by a more severe phenotype than that observed in the majority of NF1 patients. In particular, there is often variable facial dysmorphism, intellectual disability, an excessive number of early-onset neurofibromas, and an increased risk for malignant peripheral nerve sheath tumours. \nSources: Expert list",
"entity_name": "ISCA-37431-Loss",
"entity_type": "region"
},
{
"created": "2020-12-04T18:29:19.518923+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37431-Gain as ready",
"entity_name": "ISCA-37431-Gain",
"entity_type": "region"
},
{
"created": "2020-12-04T18:29:19.507079+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37431-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37431-Gain",
"entity_type": "region"
},
{
"created": "2020-12-04T18:29:01.561254+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37431-Gain as Green List (high evidence)",
"entity_name": "ISCA-37431-Gain",
"entity_type": "region"
},
{
"created": "2020-12-04T18:29:01.553199+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37431-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37431-Gain",
"entity_type": "region"
},
{
"created": "2020-12-04T18:28:52.814067+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37431-Gain was added\nRegion: ISCA-37431-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Gain were set to 22241097\nPhenotypes for Region: ISCA-37431-Gain were set to Chromosome 17q11.2 duplication syndrome, 1.4-Mb\tMIM#618874; NF1 microduplication; intellectual disability; micro- and macrocephaly; seizures; dysmorphic features\nReview for Region: ISCA-37431-Gain was set to GREEN\nAdded comment: The NF1 microduplication syndrome is characterized by mild to moderate impairment of intellectual development and mild facial dysmorphisms, with variable other features including early-onset baldness, tooth enamel hypoplasia, seizures, and macro- or microcephaly. Neurofibromas have not been reported \nSources: Expert list",
"entity_name": "ISCA-37431-Gain",
"entity_type": "region"
},
{
"created": "2020-12-04T17:33:30.732268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH7A1 as ready",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:33:30.722996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:33:23.302470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:33:01.140996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH7A1 were set to ",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:32:41.303754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:32:11.505831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:30:31.257566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPS1 as ready",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:30:31.246828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prps1 has been classified as Green List (High Evidence).",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:30:24.090620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPS1 were changed from to Arts syndrome MIM#301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 MIM#311070; Deafness, X-linked 1 MIM#304500; Gout, PRPS-related MIM#300661; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:30:00.456890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRPS1 were set to ",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:29:40.194439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PRPS1 was changed from to Other",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:29:20.418781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRPS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:28:28.837878+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WWOX as ready",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:28:28.827771+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wwox has been classified as Green List (High Evidence).",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:28:22.137254+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WWOX were changed from to Developmental and epileptic encephalopathy 28, MIM# 616211",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:27:53.751635+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WWOX were set to ",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:27:02.688804+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WWOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:26:33.711968+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: WWOX.",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:26:25.763429+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 24456803, 25411445, 32051108, 32037574; Phenotypes: Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:19:54.235244+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIVEP2 as ready",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:19:54.227415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hivep2 has been classified as Green List (High Evidence).",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:19:50.596854+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIVEP2 were changed from to Mental retardation, autosomal dominant 43, MIM# 616977",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:19:19.240756+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIVEP2 were set to ",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:18:42.630558+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIVEP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:18:09.899801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26153216, 27003583, 16836985, 31602191, 31207095; Phenotypes: Mental retardation, autosomal dominant 43, MIM# 616977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:17:06.075561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIVEP2 as ready",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:17:06.064838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hivep2 has been classified as Green List (High Evidence).",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:16:57.288663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIVEP2 were changed from to Mental retardation, autosomal dominant 43 MIM#616977",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:16:37.937436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIVEP2 were set to ",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:16:12.618588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIVEP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T17:15:54.679778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26153216, 27003583, 16836985, 31602191; Phenotypes: Mental retardation, autosomal dominant 43, MIM# 616977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:39:28.199489+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:38:51.653663+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: EWSR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:38:22.621547+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:36:44.147448+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: ERC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ERC1",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:36:04.810575+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: EPHB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:35:20.392192+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: EPCAM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:34:20.328961+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: ELAC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:33:29.125033+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: EGFR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:32:17.764118+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:31:37.990877+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:30:04.395686+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:29:25.317444+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: DIRC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DIRC3",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:28:51.171987+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: DDIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DDIT3",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:28:08.209400+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CHMP2B",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:27:59.748026+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:27:48.029076+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:27:37.044655+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:27:23.509064+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: C9orf72: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:27:11.682439+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: BCR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BCR",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:26:54.510575+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:26:36.606479+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:26:15.433446+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "commented on gene: APC",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:25:52.874833+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:18:54.685527+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CSF3R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:17:49.555642+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CREB3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CREB3L2",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:17:10.896670+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CREB3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CREB3L1",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:16:17.216095+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:14:14.139650+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:13:34.676211+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CCND1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CCND1",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:12:37.937102+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CCDC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CCDC6",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:11:41.628780+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CACNA1S",
"entity_type": "gene"
}
]
}