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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1446",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1444",
"results": [
{
"created": "2021-01-07T17:43:12.293611+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUDT2 as Green List (high evidence)",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:43:12.282463+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Green List (High Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:43:00.201686+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUDT2 was added\ngene: NUDT2 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDT2 were set to 33058507; 27431290; 30059600; 33058507\nPhenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy\nReview for gene: NUDT2 was set to GREEN\nAdded comment: Eight families reported altogether, though some have same founder variant. Four had polyneuropathy as part of the phenotype. \nSources: Literature",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:39:52.069394+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCRC1 as ready",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:39:52.061236+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:33:52.687011+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRC1 as Amber List (moderate evidence)",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:33:52.678435+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:33:23.960222+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCRC1 was added\ngene: UQCRC1 was added to Incidentalome. Sources: Literature\nMode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UQCRC1 were set to 33141179; 33248804\nPhenotypes for gene: UQCRC1 were set to Parkinson's disease\nReview for gene: UQCRC1 was set to AMBER\nAdded comment: Three unrelated families reported in PMID 33141179 with some functional data, however PMID 33248804 failed to identify significant variants in this gene in a large PD cohort. \nSources: Literature",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:32:55.752031+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCRC1 as ready",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:32:55.744732+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:32:24.386567+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRC1 as Amber List (moderate evidence)",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:32:24.379331+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-01-07T17:31:40.159613+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCRC1 was added\ngene: UQCRC1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UQCRC1 were set to 33141179; 33248804\nPhenotypes for gene: UQCRC1 were set to Parkinson's disease\nReview for gene: UQCRC1 was set to AMBER\nAdded comment: Three unrelated families reported in PMID 33141179 with some functional data, however PMID 33248804 failed to identify significant variants in this gene in a large PD cohort. \nSources: Literature",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-01-07T15:01:07.037256+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CELF2 as ready",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T15:01:07.024503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celf2 has been classified as Green List (High Evidence).",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T15:01:01.463824+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CELF2 as Green List (high evidence)",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T15:01:01.446705+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celf2 has been classified as Green List (High Evidence).",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T15:00:29.454299+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CELF2 was added\ngene: CELF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELF2 were set to 33131106\nPhenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy\nReview for gene: CELF2 was set to GREEN\nAdded comment: Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal. \nSources: Literature",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:59:06.507375+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CELF2 as ready",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:59:06.496527+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celf2 has been classified as Green List (High Evidence).",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:59:02.032659+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CELF2 as Green List (high evidence)",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:59:02.024376+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celf2 has been classified as Green List (High Evidence).",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:58:33.848389+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CELF2 was added\ngene: CELF2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELF2 were set to 33131106\nPhenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy\nReview for gene: CELF2 was set to GREEN\nAdded comment: Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal. \nSources: Literature",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:57:16.042516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CELF2 as ready",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:57:16.030932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celf2 has been classified as Green List (High Evidence).",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:56:48.012617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CELF2 as Green List (high evidence)",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:56:48.004534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celf2 has been classified as Green List (High Evidence).",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:56:15.342700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CELF2 was added\ngene: CELF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELF2 were set to 33131106\nPhenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy\nReview for gene: CELF2 was set to GREEN\nAdded comment: Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal. \nSources: Literature",
"entity_name": "CELF2",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:49:48.752043+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF13 as ready",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:49:48.741457+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf13 has been classified as Green List (High Evidence).",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:49:39.743034+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGF13 as Green List (high evidence)",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:49:39.732901+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf13 has been classified as Green List (High Evidence).",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:49:08.930472+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF13 was added\ngene: FGF13 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FGF13 were set to 33245860\nPhenotypes for gene: FGF13 were set to Intellectual disability; epilepsy\nReview for gene: FGF13 was set to GREEN\nAdded comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay. The variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants. \nSources: Literature",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:47:38.535351+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF13 as ready",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:47:38.527243+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf13 has been classified as Green List (High Evidence).",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:47:24.244634+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGF13 as Green List (high evidence)",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:47:24.236905+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf13 has been classified as Green List (High Evidence).",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:46:30.972836+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF13 was added\ngene: FGF13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FGF13 were set to 33245860\nPhenotypes for gene: FGF13 were set to Intellectual disability; epilepsy\nMode of pathogenicity for gene: FGF13 was set to Other\nReview for gene: FGF13 was set to GREEN\nAdded comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay. The variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants. \nSources: Literature",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:45:55.880726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF13 as ready",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:45:55.869803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf13 has been classified as Green List (High Evidence).",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:45:05.299347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGF13 as Green List (high evidence)",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:45:05.291203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf13 has been classified as Green List (High Evidence).",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:44:46.885637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF13 was added\ngene: FGF13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FGF13 were set to 33245860\nPhenotypes for gene: FGF13 were set to Intellectual disability; epilepsy\nMode of pathogenicity for gene: FGF13 was set to Other\nReview for gene: FGF13 was set to GREEN\nAdded comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay.\r\n\r\nThe variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants. \nSources: Literature",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:39:31.730893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCUBE3 as ready",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:39:31.723071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Green List (High Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:39:12.230876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCUBE3 as Green List (high evidence)",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:39:12.219820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Green List (High Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:38:22.807533+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCUBE3 as ready",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:38:22.796447+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Green List (High Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:38:08.938671+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCUBE3 as Green List (high evidence)",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:38:08.931003+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Green List (High Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:37:31.505521+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCUBE3 was added\ngene: SCUBE3 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCUBE3 were set to 33308444\nPhenotypes for gene: SCUBE3 were set to Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies\nReview for gene: SCUBE3 was set to GREEN\nAdded comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype. \nSources: Literature",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:36:08.157725+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. \nSources: Literature; to: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype.\r\nSources: Literature",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:35:49.257799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCUBE3 was added\ngene: SCUBE3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCUBE3 were set to 33308444\nPhenotypes for gene: SCUBE3 were set to Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies\nReview for gene: SCUBE3 was set to GREEN\nAdded comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. \nSources: Literature",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:31:53.431627+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR7 as ready",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:31:53.422442+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr7 has been classified as Green List (High Evidence).",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:31:43.454471+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBR7 as Green List (high evidence)",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:31:43.444025+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr7 has been classified as Green List (High Evidence).",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:31:14.273191+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBR7 was added\ngene: UBR7 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBR7 were set to 33340455\nPhenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features\nReview for gene: UBR7 was set to GREEN\nAdded comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7). \nSources: Literature",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:30:00.283839+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR7 as ready",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:30:00.275693+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr7 has been classified as Green List (High Evidence).",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:29:54.032523+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBR7 as Green List (high evidence)",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:29:54.021926+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr7 has been classified as Green List (High Evidence).",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:29:25.511351+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBR7 was added\ngene: UBR7 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBR7 were set to 33340455\nPhenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features\nReview for gene: UBR7 was set to GREEN\nAdded comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7). \nSources: Literature",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:28:02.807153+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR7 as ready",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:28:02.795304+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr7 has been classified as Green List (High Evidence).",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:27:54.036338+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBR7 as Green List (high evidence)",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:27:54.026165+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr7 has been classified as Green List (High Evidence).",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:27:17.183811+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBR7 was added\ngene: UBR7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBR7 were set to 33340455\nPhenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features\nReview for gene: UBR7 was set to GREEN\nAdded comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7). \nSources: Literature",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:25:39.018704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR7 as ready",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:25:39.011311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr7 has been classified as Green List (High Evidence).",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:25:30.257376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBR7 as Green List (high evidence)",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:25:30.249985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr7 has been classified as Green List (High Evidence).",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:25:10.843806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBR7 was added\ngene: UBR7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBR7 were set to 33340455\nPhenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features\nReview for gene: UBR7 was set to GREEN\nAdded comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7). \nSources: Literature",
"entity_name": "UBR7",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:17:10.970721+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RALGAPB as ready",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:17:10.962383+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ralgapb has been classified as Red List (Low Evidence).",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:17:04.389564+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RALGAPB as Red List (low evidence)",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:17:04.381951+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ralgapb has been classified as Red List (Low Evidence).",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:16:00.186206+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU7-1 as ready",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:16:00.176672+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:15:31.242648+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU7-1 as Green List (high evidence)",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:15:31.232961+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:14:56.539721+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU7-1 as ready",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:14:56.528479+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:14:41.658228+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU7-1 as Green List (high evidence)",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:14:41.650567+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:14:01.667087+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi–Goutières syndrome-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:13:43.507630+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU7-1 as ready",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:13:43.497339+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:13:37.972702+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU7-1 as Green List (high evidence)",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:13:37.962187+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:12:39.315938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU7-1 as ready",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:12:39.305362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:12:26.488415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU7-1 were changed from PMID: 33230297 to Aicardi–Goutières syndrome-like",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:11:29.552991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU7-1 as Green List (high evidence)",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:11:29.542383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:11:05.737809+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU7-1 as ready",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:11:05.728785+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:10:58.669770+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU7-1 as Green List (high evidence)",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:10:58.658090+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
}
]
}