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{
"count": 154250,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=2",
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"results": [
{
"created": "2020-07-10T09:29:32.265487Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.160",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag founder-effect tag was added to gene: RIC1.",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-10T08:36:40.870735Z",
"panel_name": "Non-CF bronchiectasis",
"panel_id": 296,
"panel_version": "1.22",
"user_name": "Zerin Hyder",
"item_type": "entity",
"text": "reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18037990, 11788826; Phenotypes: Primary Ciliary Dyskinesia, Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644, situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-07-09T22:00:09.210653Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ICK.",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:59:07.308998Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: ICK.",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:57:54.828378Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: NEK1 as Amber List (moderate evidence)",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:57:54.825026Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: After discussion with the Genomics England clinical team it was decided to rate this gene amber as although there is a renal phenotype there is a more striking skeletal component and having this gene green may create extra noise in renal-only presentations.",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:57:54.805019Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: nek1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:51:56.475528Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.24",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: NEK1.",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:51:33.600387Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.24",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: NEK1 were set to ",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:50:58.034612Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: NEK1: Changed publications: 21211617, 22499340, 25492405, 28123176; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:49:55.808576Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: NEK1: Changed rating: AMBER",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-07-09T17:20:27.041378Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.119",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: OTUD7A: Review by Zornitza Stark on Intellectual disability panel https://panelapp.genomicsengland.co.uk/panels/285/: One patient with severe global developmental delay, language impairment and epileptic encephalopathy reported. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies. Mouse model and other data support the role of this gene in neurodevelopmental phenotypes but nevertheless, single family to date.",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-07-09T17:17:53.546355Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.119",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: OTUD7A was added\ngene: OTUD7A was added to Genetic epilepsy syndromes. Sources: Literature\nMode of inheritance for gene: OTUD7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OTUD7A were set to 31997314; 29395075; 29395074\nPhenotypes for gene: OTUD7A were set to Epileptic encephalopathy, intellectual disability\nReview for gene: OTUD7A was set to RED\nAdded comment: Not associated with phenotype in OMIM or in Gen2Phen, Although the region ISCA-46295-Loss, which encompasses the OTUD7A locus, is associated with seizures 20236110, mental retardation 22775350, dysmorphic features, developmental delay and severe epileptic encephalopathy. PMID 31997314 report a homozygous variant in a case of severe global developmental delay, language impairment and epileptic encephalopathy; segregation and functional studies support this gene disease association. \nSources: Literature",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2020-07-09T16:44:04.821760Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: ICK: Added comment: After discussion with the Genomics England clinical team it was decided this gene should be downgraded from green to amber at the next review. \r\n\r\nEvidence for a renal phenotype is borderline, with some evidence for an absence of a phenotype. \r\n\r\nPMID: 19185282 - 2 Amish families () have the same variant in ICK and 3 infants from these families showed cystically dilated tubules in both the medulla and the cortex of the kidney. \r\nPMID: 27069622 - 1 family is reported where a foetal scan showed large and hyperechogenic kidneys. \r\nPMID: 27466187 - reports a newborn with short rib polydactyly syndrome and a variant in ICK, but no renal phenotype. Two mouse knockout models (PMID: 24853502 and 24797473) also do not show a kidney phenotype.; Changed rating: AMBER; Changed publications: 19185282, 27069622, 27466187, 24853502, 24797473",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-07-09T16:33:43.326013Z",
"panel_name": "Renal ciliopathies",
"panel_id": 725,
"panel_version": "1.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: HNF1B",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-07-09T15:18:02.164314Z",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 6,
"panel_version": "1.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: LDLR were set to PMID: 23433573; 25414277",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:54:21.794864Z",
"panel_name": "Inherited white matter disorders",
"panel_id": 42,
"panel_version": "1.78",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: GALNT2 as Green List (high evidence)",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:54:21.785922Z",
"panel_name": "Inherited white matter disorders",
"panel_id": 42,
"panel_version": "1.78",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: galnt2 has been classified as Green List (High Evidence).",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:54:10.885701Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.160",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: GALNT2 as Amber List (moderate evidence)",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:54:10.882156Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.160",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:54:10.852742Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.160",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: galnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:53:17.902326Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.118",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: GALNT2 as Amber List (moderate evidence)",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:53:17.895695Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.118",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, depending on the policy of inclusion of metabolic genes on this panel.",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:53:17.865452Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.118",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: galnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:51:54.358777Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.159",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: GALNT2 was added\ngene: GALNT2 was added to Intellectual disability. Sources: Literature\nfor-review tags were added to gene: GALNT2.\nMode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALNT2 were set to 27508872; 32293671\nPhenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt 618885\nReview for gene: GALNT2 was set to GREEN\nAdded comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 5 unrelated cases, together with mouse and rat models (PMID 27508872;32293671). \nSources: Literature",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:51:48.106664Z",
"panel_name": "Inherited white matter disorders",
"panel_id": 42,
"panel_version": "1.77",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: GALNT2 was added\ngene: GALNT2 was added to Inherited white matter disorders. Sources: Literature\nfor-review tags were added to gene: GALNT2.\nMode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALNT2 were set to 27508872; 32293671\nPhenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt 618885\nReview for gene: GALNT2 was set to GREEN\nAdded comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 5 unrelated cases, together with mouse and rat models (PMID 27508872;32293671). \nSources: Literature",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:51:00.318792Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.117",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: GALNT2 was added\ngene: GALNT2 was added to Genetic epilepsy syndromes. Sources: Literature\nfor-review tags were added to gene: GALNT2.\nMode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALNT2 were set to 27508872; 32293671\nPhenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt 618885\nReview for gene: GALNT2 was set to GREEN\nAdded comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 5 unrelated cases, together with mouse and rat models (PMID 27508872;32293671). \nSources: Literature",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:48:38.790924Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:48:18.314837Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least unrelated cases, together with mouse and rat models (PMID 27508872;32293671).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 5 unrelated cases, together with mouse and rat models (PMID 27508872;32293671).",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:22:46.499780Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.116",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ADARB1 as Amber List (moderate evidence)",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:22:46.494897Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.116",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:22:46.450886Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.116",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: adarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:22:29.584703Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ADARB1.",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:22:25.274135Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.115",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ADARB1.",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:21:59.818108Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ADARB1 as Amber List (moderate evidence)",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:21:59.812743Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:21:59.772255Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: adarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:19:23.360630Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.158",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ADARB1 as Amber List (moderate evidence)",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:19:23.356467Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.158",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:19:23.327277Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.158",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: adarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:18:26.123959Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.157",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ADARB1.",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:14:04.826908Z",
"panel_name": "Inborn errors of metabolism",
"panel_id": 467,
"panel_version": "2.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: ALG14: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:13:46.041141Z",
"panel_name": "Inborn errors of metabolism",
"panel_id": 467,
"panel_version": "2.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ALG14.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:13:32.552594Z",
"panel_name": "Undiagnosed metabolic disorders",
"panel_id": 302,
"panel_version": "1.418",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: ALG14: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:13:13.049723Z",
"panel_name": "Undiagnosed metabolic disorders",
"panel_id": 302,
"panel_version": "1.418",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ALG14.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:13:09.783014Z",
"panel_name": "Inborn errors of metabolism",
"panel_id": 467,
"panel_version": "2.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ALG14 were set to 27604308; 23404334",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:12:04.872494Z",
"panel_name": "Undiagnosed metabolic disorders",
"panel_id": 302,
"panel_version": "1.418",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ALG14 were set to 27604308",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:11:33.905763Z",
"panel_name": "Inborn errors of metabolism",
"panel_id": 467,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ALG14 as Amber List (moderate evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:11:33.902288Z",
"panel_name": "Inborn errors of metabolism",
"panel_id": 467,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous (p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:11:33.878187Z",
"panel_name": "Inborn errors of metabolism",
"panel_id": 467,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:11:12.292470Z",
"panel_name": "Undiagnosed metabolic disorders",
"panel_id": 302,
"panel_version": "1.417",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ALG14 as Amber List (moderate evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:11:12.284401Z",
"panel_name": "Undiagnosed metabolic disorders",
"panel_id": 302,
"panel_version": "1.417",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous (p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:11:12.230721Z",
"panel_name": "Undiagnosed metabolic disorders",
"panel_id": 302,
"panel_version": "1.417",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:10:11.124525Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.115",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous ((p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient. \nSources: Literature; to: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous (p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient. \r\nSources: Literature",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:02:33.946092Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ALG14: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:02:16.593251Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ALG14 as Amber List (moderate evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:02:16.589683Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous ((p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:02:16.568608Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "2.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T12:00:43.503499Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "2.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ALG14 were set to 27604308; 23404334",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:59:28.326871Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "2.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ALG14.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:57:15.895372Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.115",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ALG14 as Amber List (moderate evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:57:15.890656Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.115",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review and depending on the policy of inclusion of metabolic genes on this panel.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:57:15.813530Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.115",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:53:01.633456Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.114",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ALG14 was added\ngene: ALG14 was added to Genetic epilepsy syndromes. Sources: Literature\nfor-review tags were added to gene: ALG14.\nMode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG14 were set to 28733338; 23404334; 30221345\nPhenotypes for gene: ALG14 were set to Congenital myasthenic syndrome; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227\nReview for gene: ALG14 was set to AMBER\nAdded comment: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous ((p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient. \nSources: Literature",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:37:39.160839Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ADARB1 was added\ngene: ADARB1 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADARB1 were set to 32220291\nPhenotypes for gene: ADARB1 were set to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862\nReview for gene: ADARB1 was set to GREEN\nAdded comment: Variants reported in four unrelated individuals with severe/profound intellectual disability, microcephaly, and seizures. Affected individuals were microcephalic at birth or developed postnatal microcephaly ranging from -3.6 to -4.0 SD. Functional studies demonstrate variants result in reduction of ADARB1 product activity or changes in splicing (PMID: 32220291). Homozygous knockout mice presented with seizures and early death, supporting the role of ADARB1 in brain function (PMID: 10894545).\r\n\r\nGene is associated with phenotype in OMIM and G2P. \nSources: Literature",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:32:50.888016Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ALG14 were set to 28733338; 23404334",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:29:52.517016Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.113",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ADARB1 was added\ngene: ADARB1 was added to Genetic epilepsy syndromes. Sources: Literature\nMode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADARB1 were set to 32220291\nPhenotypes for gene: ADARB1 were set to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862\nReview for gene: ADARB1 was set to GREEN\nAdded comment: Variants reported in four unrelated individuals with severe/profound intellectual disability, microcephaly, and seizures, which were intractable in three of the individuals. Functional studies demonstrate variants result in reduction of ADARB1 product activity or changes in splicing (PMID: 32220291). Homozygous knockout mice presented with seizures and early death, supporting the role of ADARB1 in brain function (PMID: 10894545)\r\n\r\nGene is associated with phenotype in OMIM and G2P. \nSources: Literature",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:29:02.644546Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.157",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Have added the \"for review\" tag, to address the phenotypic variability of published carriers of ALG14 variants.; to: Have added the \"for review\" tag, to address the phenotypic variability of published carriers of ALG14 variants. This will be reviewed as more cases are reported.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:25:55.904600Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.157",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ADARB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32220291; Phenotypes: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:19:22.559919Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TTC5: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:17:00.463852Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TTC5: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:16:37.660627Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: TTC5 as Amber List (moderate evidence)",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:16:37.653120Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: ttc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:16:25.612031Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TTC5 was added\ngene: TTC5 was added to Severe microcephaly. Sources: Literature\nfor-review tags were added to gene: TTC5.\nMode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC5 were set to 29302074; 32439809\nPhenotypes for gene: TTC5 were set to Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system\nReview for gene: TTC5 was set to GREEN\nAdded comment: Not associated with a relevant phenotype in OMIM and as probable Gen2Phen gene for TTC5-associated neurodevelopmental disorder. At least 7 cases with biallelic variants. \nSources: Literature",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-07-08T15:00:31.015581Z",
"panel_name": "COVID-19 research",
"panel_id": 111,
"panel_version": "1.59",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: KIR2DL2",
"entity_name": "KIR2DL2",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:51:22.259100Z",
"panel_name": "COVID-19 research",
"panel_id": 111,
"panel_version": "1.59",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: CCL3L1.",
"entity_name": "CCL3L1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:51:07.895584Z",
"panel_name": "COVID-19 research",
"panel_id": 111,
"panel_version": "1.59",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: CCL3L1",
"entity_name": "CCL3L1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:49:16.435882Z",
"panel_name": "Hyperthyroidism",
"panel_id": 236,
"panel_version": "2.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: TRU-TCA1-1.",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:48:54.044646Z",
"panel_name": "Hyperthyroidism",
"panel_id": 236,
"panel_version": "2.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: TRU-TCA1-1",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:37:55.531448Z",
"panel_name": "COVID-19 research",
"panel_id": 111,
"panel_version": "1.59",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: TRBC1",
"entity_name": "TRBC1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:32:07.161235Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG41.",
"entity_name": "SPG41",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:31:44.170987Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG38.",
"entity_name": "SPG38",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:31:21.188275Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG37.",
"entity_name": "SPG37",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:31:02.820280Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG36.",
"entity_name": "SPG36",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:30:46.096990Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG34.",
"entity_name": "SPG34",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:30:27.005956Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG32.",
"entity_name": "SPG32",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:30:09.853536Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG29.",
"entity_name": "SPG29",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:29:49.162752Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG27.",
"entity_name": "SPG27",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:29:15.514436Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG25.",
"entity_name": "SPG25",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:28:41.735861Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG24.",
"entity_name": "SPG24",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:24:53.985777Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG23.",
"entity_name": "SPG23",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:24:26.594086Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG19.",
"entity_name": "SPG19",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:24:01.411458Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG16.",
"entity_name": "SPG16",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:23:41.749826Z",
"panel_name": "Hereditary spastic paraplegia",
"panel_id": 165,
"panel_version": "1.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: SPG14.",
"entity_name": "SPG14",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:23:03.605782Z",
"panel_name": "Inherited non-medullary thyroid cancer",
"panel_id": 171,
"panel_version": "1.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: PTCSC1.",
"entity_name": "PTCSC1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:22:45.572665Z",
"panel_name": "Inherited non-medullary thyroid cancer",
"panel_id": 171,
"panel_version": "1.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: PTCSC1",
"entity_name": "PTCSC1",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:04:14.875810Z",
"panel_name": "Pancreatitis",
"panel_id": 386,
"panel_version": "2.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: PRSS2.",
"entity_name": "PRSS2",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:04:02.486362Z",
"panel_name": "Pancreatitis",
"panel_id": 386,
"panel_version": "2.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: PRSS2",
"entity_name": "PRSS2",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:02:13.667375Z",
"panel_name": "Optic neuropathy",
"panel_id": 186,
"panel_version": "2.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: OPA8.",
"entity_name": "OPA8",
"entity_type": "gene"
},
{
"created": "2020-07-08T14:01:54.758308Z",
"panel_name": "Optic neuropathy",
"panel_id": 186,
"panel_version": "2.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: OPA6.",
"entity_name": "OPA6",
"entity_type": "gene"
}
]
}