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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=557",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=555",
"results": [
{
"created": "2023-08-25T14:44:40.497387+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "edited their review of gene: PANK2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-25T14:44:15.892677+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301402; Phenotypes: Parkinson disease MONDO:0005180, autosomal recessive early-onset Parkinson disease 7 MONDO:0011658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2023-08-25T14:41:24.812485+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: PANK2: Rating: ; Mode of pathogenicity: None; Publications: 23447832, 20301663; Phenotypes: pantothenate kinase-associated neurodegeneration MONDO:0009319; Mode of inheritance: None",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-25T14:40:59.095283+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: CYP4F2 was added\ngene: CYP4F2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: CYP4F2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP4F2 were set to 25370453; 20555338; 19207028; 18250228\nPhenotypes for gene: CYP4F2 were set to Warfarin dosage sensitivity MIM# 122700\nReview for gene: CYP4F2 was set to GREEN\nAdded comment: It is involved in guidelines for warfarin \r\nhttps://www.pharmgkb.org/gene/PA27121/overview \nSources: Expert list",
"entity_name": "CYP4F2",
"entity_type": "gene"
},
{
"created": "2023-08-25T13:55:57.454589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOL1 as Amber List (moderate evidence)",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2023-08-25T13:55:57.435888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apol1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2023-08-25T13:55:33.169737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: APOL1: Added comment: Assigned Definitive gene-disease validity by the ClinGen Glomerulopathy GCEP - Classification - 09/28/2021\r\nIncreased risk of kidney and glomerular diseases in persons carrying two of the risk alleles in this gene: G1/G1, G2/G2 and compound heterozygous G1/G2.\r\nPMID: 20647424 - first study to identify G1 & G2 alleles associated with risk of renal disease. Comparing participants with zero or 1 risk allele of APOL1 to participants with 2 risk alleles provided an odds ratio for FSGS of 10.5 (CI, 6.0-18.4). This analysis supported a completely recessive pattern of inheritance. \r\nPMID: 25993319 - only G1 and G2 confer renal risk, and other common and rare APOL1 missense variants, including the archaic G3 haplotype, do not contribute to sporadic FSGS and HIVAN\r\nrs73885319 (G1) OR 9.66, p=9.97E-25\r\nrs60910145 (G1) OR 9.75, p=9.04E-24\r\nrs71785313 (G2) OR 5.69, p=3.39E-06\r\n2 APOL1 risk alleles OR 18.31, p=3.31E-58\r\nPMID: 34350953 - recessive gain-of-function toxicity mouse model recapitulates human kidney disease\r\nG1: \r\np.Ser342Gly, AFR/AA gnomAD v2.1 AF 0.2276 (5,671/24,920 alleles, 687 homozygotes) \r\np.Ile384Met, AFR/AA gnomAD v2.1 AF 0.2278 (5,487/24,082 alleles, 662 homozygotes)\r\nG2: \r\np.Asn388_Tyr389del, AFR/AA gnomAD v2.1 AF 0.1402(3,402/24,268 alleles, 224 homozygotes\r\n\r\nAMBER status due to these being susceptibility alleles, and evidence being limited to these specific variants.; Changed rating: AMBER",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2023-08-25T11:50:30.859988+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301678; Phenotypes: late-onset Parkinson disease MONDO:0008199; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2023-08-25T11:47:07.082952+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436631, 23521865, 20301751; Phenotypes: Chediak-Higashi syndrome MONDO:0008963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2023-08-25T11:42:06.985325+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301387; Phenotypes: autosomal dominant Parkinson disease 8 MONDO:0011764, obsolete hereditary late onset Parkinson disease MONDO:0018466, Parkinson disease MONDO:0005180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LRRK2",
"entity_type": "gene"
},
{
"created": "2023-08-25T11:39:44.651712+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "edited their review of gene: FTL: Changed rating: GREEN",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2023-08-25T11:39:36.456341+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: FTL: Rating: ; Mode of pathogenicity: None; Publications: 23447832, 20301320; Phenotypes: neuroferritinopathy MONDO:0011638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2023-08-25T11:31:40.464618+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301402; Phenotypes: parkinsonian-pyramidal syndrome MONDO:0009830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2023-08-25T11:28:54.083862+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33983693; Phenotypes: juvenile onset Parkinson disease 19A MONDO:0014231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2023-08-25T11:23:52.343361+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2023-08-25T11:16:35.718648+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14765194, 18315553, 14765194, 19940803; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473, Warfarin resistance MIM# 122700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2023-08-25T10:45:50.442303+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: NUDT15 was added\ngene: NUDT15 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: NUDT15 was set to Other\nPublications for gene: NUDT15 were set to 26878724\nPhenotypes for gene: NUDT15 were set to Thiopurines, poor metabolism of, 2 MIM# 616903\nReview for gene: NUDT15 was set to GREEN\nAdded comment: It is involved in guidelines for thiopurines including mercaptopurine and azathioprine.\r\n\r\nhttps://www.pharmgkb.org/gene/PA134963132\r\n\r\nPathogenic variants in NUDT15 result in poor metabolism of thiopurines that was significantly associated with thiopurine-induced leukopenia. The NUDT15 deficiency trait follows an additive genetic mode of inheritance, with the severity of the phenotype proportional to the cumulative number of risk alleles in NUDT15.\r\n\r\nMechanistically, NUDT15 inactivated thiopurine metabolites and decreased thiopurine cytotoxicity in vitro, and patients with defective NUDT15 alleles showed excessive levels of thiopurine active metabolites and toxicity. (PMID: 26878724). \nSources: Expert list",
"entity_name": "NUDT15",
"entity_type": "gene"
},
{
"created": "2023-08-25T10:45:03.701861+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20945553; Phenotypes: Perry syndrome MONDO:0008201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2023-08-25T10:23:09.144667+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 25935893, 22934315; Phenotypes: obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia MONDO:0009096; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2023-08-25T10:15:03.627394+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: SLCO1B1 was added\ngene: SLCO1B1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: SLCO1B1 was set to Other\nPublications for gene: SLCO1B1 were set to 19952871; 5152405; 35968761\nPhenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic\tMIM# 237450\nReview for gene: SLCO1B1 was set to GREEN\nAdded comment: It is involved in guidelines for statins including CPIC guidelines for atorvastatin, simvastatin, and rosuvastatin. It is also implicated in a range of pharmacogenomic responses: https://www.pharmgkb.org/gene/PA134865839\r\n\r\nRotor type hyperbilirubinemia (HBLRR) is caused by digenic inheritance of homozygous mutations in the SLCO1B1 (MIM# 604843) and SLCO1B3 (MIM# 605495) genes. Van de Steeg et al. (2012) (PMID: 22232210) suggested that individuals with Rotor syndrome may also be at increased risk for drug toxicity, since these proteins are involved in the clearance of drug conjugates. SLCO1B1 single nucleotide polymorphisms and haplotypes have been implicated in altered pharmacokinetic handling and pharmacodynamic response \r\n\r\nThe solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene encodes for a membrane-bound sodium-independent organic anion transporter protein (OATP1B1). OATP1B1 mediates active transport of many endogenous substrates, such as bile acids, xenobiotic compounds, and a wide panel of pharmaceutical compounds. (PMID: 19952871)\r\n\r\nSLCO1B1 variants are known to be a strong predictor of statin-associated muscle symptoms (SAMS) risk with simvastatin (PMID: 5152405).\r\n\r\nAllelic variants of SLCO1B1 and ABCB1 predict the lipid-lowering efficacy of atorvastatin (PMID:35968761). \nSources: Expert list",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2023-08-25T10:07:40.034122+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21981780, 23278385; Phenotypes: neurodegeneration with brain iron accumulation 4 MONDO:0013674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-08-25T09:37:55.177723+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: CYP2C9 was added\ngene: CYP2C9 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: CYP2C9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYP2C9 were set to 12893985\nPhenotypes for gene: CYP2C9 were set to Tolbutamide poor metabolizer, Warfarin sensitivity MIM# 122700\nReview for gene: CYP2C9 was set to GREEN\nAdded comment: CYP2C9 is one of the major drug-metabolizing CYP450 isoforms. It is involved in guidelines for warfarin, phenytoin and NSAIDs (https://www.pharmgkb.org/gene/PA126).\r\n\r\nCYP2C9 is the cytochrome P450 enzyme responsible for the metabolism of the isomer of warfarin (see 122700) that is principally responsible for the anticoagulant effect of the drug. Persons with the genotype of impaired metabolism require lower doses of warfarin to achieve an anticoagulant effect similar to that in patients with the normal genotype and are more likely to have an excessive anticoagulant response (PMID: 10073515). \r\n\r\nKirchheiner et al. (2003) (PMID: 12893985) studied the effects of CYP2C9 on celecoxib, a nonsteroidal antiinflammatory drug (NSAID) that is used to treat rheumatoid arthritis and osteoarthritis and exhibits antiinflammatory, analgesic, and antipyretic activity by selective inhibition of cyclooxygenase-2 (COX2; 600262). They found a more than 2-fold reduced oral clearance in homozygous carriers of CYP2C9*3; heterozygous carriers of 1 CYP2C9*3 allele were in between, whereas CYP2C9*2 had no significant influence on celecoxib pharmacokinetics. \nSources: Expert list",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2023-08-25T09:36:08.207389+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17282997, 15260953, 17595045, 17516473, 22534615; Phenotypes: ATP1A3-associated neurological disorder MONDO:0700002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2023-08-25T09:23:35.924926+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.243",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25900096; Phenotypes: parkinsonism due to ATP13A2 deficiency MONDO:0017809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-25T09:22:09.656222+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: CYP2C19 was added\ngene: CYP2C19 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: CYP2C19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2C19 were set to 12464799\nPhenotypes for gene: CYP2C19 were set to DRUG METABOLISM, POOR, CYP2C19-RELATED, MEPHENYTOIN, POOR METABOLISM OF, INCLUDED OMEPRAZOLE, POOR METABOLISM OF, INCLUDED PROGUANIL, POOR METABOLISM OF, INCLUDED CLOPIDOGREL, POOR METABOLISM OF, INCLUDED MIM#609535\nReview for gene: CYP2C19 was set to GREEN\nAdded comment: Genetic polymorphism in the metabolism of the anticonvulsant drug mephenytoin exhibits marked racial heterogeneity. Patients carrying any 2 CYP2C19 loss-of-function alleles (*2, *3, *4, or *5), had a higher event rate than patients with none.\r\n\r\nCYP2C19 is a clinically important enzyme (EC 1.14.13.80) that metabolizes a wide variety of drugs, including the anticonvulsant mephenytoin, anti-ulcer drugs such as omeprazole, certain antidepressants, and the antimalarial drug proguanil. Mutation in the CYP2C19 gene causes poor metabolism of these drugs (PMID: 12464799).\r\n\r\nIt is involved in guidelines for antidepressants, clopidogrel and voriconazole.\r\nhttps://www.pharmgkb.org/gene/PA124 \nSources: Expert list",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2023-08-24T18:25:50.198296+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-24T18:25:50.186892+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-24T18:25:45.543644+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP13A2 as Green List (high evidence)",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-24T18:25:45.519320+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-24T18:24:44.562239+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP13A2 were set to 30868101; 21362476; 31588715; 22388936\nPhenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MIM#606693\nReview for gene: ATP13A2 was set to GREEN\nAdded comment: Progressive neurological disorder, seizures in some patients. \nSources: Expert Review",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2023-08-24T17:02:35.612319+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF335 as ready",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2023-08-24T17:02:35.602699+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf335 has been classified as Green List (High Evidence).",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2023-08-24T17:01:32.680393+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF335 as Green List (high evidence)",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2023-08-24T17:01:32.668787+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf335 has been classified as Green List (High Evidence).",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2023-08-24T17:00:55.207549+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF335 was added\ngene: ZNF335 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF335 were set to 23178126; 27540107; 29652087\nPhenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive (MIM#615095)\nReview for gene: ZNF335 was set to GREEN\nAdded comment: At least 6 unrelated families reported in literature with different biallelic variants in ZNF335. Microcephaly is the primary feature, but also commonly in association with a variable epilepsy phenotype.\r\n\r\nStouffs et al. (PMID:29652087) report 2 unrelated cases: patient A, demonstrating refractory seizures leading to death at age 5 days, whereas patient B lacked any clinical seizures, but had frequent spasms that have yet to be recorded by EEG. The proband in Sato et al. (PMID:27540107) had rare focal seizures controlled by treatment. Although not noted by Yang et al. (PMID:231781260), affected individuals in that family had seizures described as paroxysmal myoclonic jerks (personal communication with Stouffs et al). The case by Rana et al. (PMID:31187448) presented multifocal drug-resistant epilepsy, and while details were limited in McSherry et al. (PMID:30500859), authors did also note seizures. \nSources: Expert Review",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:57:57.527108+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP18 as ready",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:57:57.515767+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp18 has been classified as Green List (High Evidence).",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:57:51.139810+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP18 as Green List (high evidence)",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:57:51.127235+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp18 has been classified as Green List (High Evidence).",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:57:13.600332+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP18 was added\ngene: USP18 was added to Genetic Epilepsy. Sources: Expert Review\ntreatable tags were added to gene: USP18.\nMode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP18 were set to 12833411; 27325888; 31940699\nPhenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM#617397\nReview for gene: USP18 was set to GREEN\nAdded comment: - PMID: 27325888 (2016) - Three sibs from a consanguineous Turkish family with a homozygous variant (c.652C>T, p.Q218X) in USP18. Antenatal presentation in one sib led to termination of pregnancy at 22 wk of gestation, and in the remaining two children presentation was neonatal and resulted in death within 2 weeks of life. In the latter two individuals manifestations included severe intracerebral haemorrhages, liver dysfunction, ascites, and lactic acidosis. One sib additionally had severe thrombocytopenia with petechiae, while the other developed seizures.\r\n\r\nTwo German sibs, previously reported in PMID: 12833411 (2013), were found to be compound het for the same p.Q218X variant and a cryptic 3-prime deletion of the USP18 gene. They presented thrombocytopenia, petechiae, ascites, hepatomegaly, and systemic calcifications. Within the first days of life, they developed seizures and died from severe cerebral haemorrhage.\r\n\r\nHaplotype analysis of the region containing the Q218X mutation suggested a common ancestor between the 2 families and a founder effect.\r\n\r\n- PMID: 31940699 (2020) - One Saudi Arabian boy with a homozygous splice-site variant (c.1073+1G>A) in USP18, presented hydrocephalus with seizures, intraventricular haemorrhage, brain calcifications, necrotizing cellulitis, systemic inflammation, multiple organ failure, and respiratory failure. This was the only patient to survive beyond the perinatal period owing to supportive care and prompt treatment with ruxolitinib. At the time of publication, the child was 3-years-old and was in full remission of clinical manifestations while continuing to receive oral ruxolitinib. He continues to grow normally, however authors note delay in developmental milestones. \nSources: Expert Review",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:51:35.294707+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP2 as ready",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:51:35.283933+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:51:30.466840+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBGCP2 as Green List (high evidence)",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:51:30.445687+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:49:42.050727+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: PMID: 31630790 (2019) - Five patients from four families with biallelic variants in the TUBGCP2 gene. Affected individuals shared phenotypic features that included progressive microcephaly (4/4), developmental delay (5/5, mild-severe), generalised seizures (4/5, onset at 6yrs-9m, 5m, and 7m). All patients exhibited lissencephaly-spectrum phenotypes with varying degrees of cortical malformations on brain imaging including pachygyria and subcortical band heterotopia.\r\n\r\nAll variants segregated with disease in each family. Analysis of fibroblasts derived from one patient with a splice site variant revealed several abnormal transcripts, predicted to result in LoF. No further functional studies of other variants or patient cells were performed. \nSources: Expert Review",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:47:19.284928+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF113A as ready",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:47:19.273168+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:47:04.758307+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF113A as Green List (high evidence)",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:47:04.745754+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:46:28.879234+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNF113A was added\ngene: RNF113A was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: RNF113A were set to 25612912; 31880405; 31793730; 29133357; 30506991; 15256591; 24026126; 23555887\nPhenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, MIM#300953\nReview for gene: RNF113A was set to GREEN\nAdded comment: Seizures reported in a proportion of affected individuals. \nSources: Expert Review",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:44:18.291665+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARS as ready",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:44:18.272929+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars has been classified as Green List (High Evidence).",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:43:50.473822+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RARS as Green List (high evidence)",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:43:50.463300+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars has been classified as Green List (High Evidence).",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:43:12.265542+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARS was added\ngene: RARS was added to Genetic Epilepsy. Sources: Expert Review\nnew gene name tags were added to gene: RARS.\nMode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RARS were set to 31814314\nPhenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 (# 616140)\nReview for gene: RARS was set to GREEN\nAdded comment: PMID 31814314: Clinical presentation and severity can be highly variable. However, among the 15 patients of relevant age (5/20 deceased at an early age), ID was observed in 13 (in 6/13 mild-moderate, in 7/13 severe/profound). Epilepsy was reported in half (10/20) with seizures being refractory to treatment in most and the phenotype corresponding to an infantile epileptic encephalopathy. DD and seizures were the presenting feature in 7 and 5 patients respectively, while in other cases presenting features were less specific (eg. failure to thrive in 1/20, irritabilty in 2/20). \nSources: Expert Review",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:41:17.982922+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGM2L1 as ready",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:41:17.975146+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgm2l1 has been classified as Green List (High Evidence).",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:41:13.478084+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PGM2L1 as Green List (high evidence)",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:41:13.465988+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgm2l1 has been classified as Green List (High Evidence).",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:40:20.941885+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM2L1 was added\ngene: PGM2L1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGM2L1 were set to 33979636\nPhenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder, MONDO:0700092, PGM2L1-related\nReview for gene: PGM2L1 was set to GREEN\nAdded comment: PMID: 33979636:\r\n- Bi-allelic PTVs in 4 unrelated individuals. All four affected individuals had severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures were present in three individuals.\r\n- Studies on patient fibroblasts and cell lines indicated that PGM2L1 deficiency causes a decrease, but not a disappearance, of the sugar bisphosphates needed for the formation of NDP-sugars and that there is no evidence that this leads to a glycosylation defect. \nSources: Expert Review",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:37:24.062368+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MINPP1 as ready",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:37:24.050488+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:37:19.795403+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MINPP1 as Green List (high evidence)",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:37:19.784749+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:36:41.517312+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MINPP1 was added\ngene: MINPP1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MINPP1 were set to 33257696\nPhenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16, MIM#\t619527\nReview for gene: MINPP1 was set to GREEN\nAdded comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.\r\n\r\nSupportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions. \nSources: Expert Review",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:34:28.668021+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLRA2 as ready",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:34:28.654401+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glra2 has been classified as Green List (High Evidence).",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:34:21.990055+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLRA2 as Green List (high evidence)",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:34:21.974721+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glra2 has been classified as Green List (High Evidence).",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:31:50.664766+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRA2 was added\ngene: GLRA2 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: GLRA2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: GLRA2 were set to 35294868\nPhenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076\nReview for gene: GLRA2 was set to GREEN\nAdded comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. PMID: 35294868 reports eight GLRA2 variants in affected females (n=8) and males (n=5). The variants in the females were de novo and c.887C>T,\r\np.Thr296Met (NC_000023.10, chrX: g.14627284C>T) was present in six individuals (PMID: 35294868, table 2) and was found to have a gain-of-function effect, which is in contrast to c.754C>T, p.Arg252Cys and c.407A>G, p.Asn136Ser (PMID: 2637014). All of the 13 GLRA2 variant carriers in PMID: 35294868 had developmental delay/intellectual disability and epilepsy was evident in 7/13 of the cases (PMID: 35294868, table 2). Supportive functional studies were also presented. \nSources: Expert Review",
"entity_name": "GLRA2",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:28:49.380197+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DTYMK as ready",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:28:49.368113+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtymk has been classified as Amber List (Moderate Evidence).",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:28:43.890680+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DTYMK as Amber List (moderate evidence)",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:28:43.882780+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtymk has been classified as Amber List (Moderate Evidence).",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:28:08.518059+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DTYMK was added\ngene: DTYMK was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DTYMK were set to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)\nReview for gene: DTYMK was set to AMBER\nAdded comment: Four individuals from three families reported. Two individuals had seizures (febrile seizures in one and myoclonic jerks in the other). \nSources: Expert Review",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:23:33.895428+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDC as ready",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:23:33.884939+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddc has been classified as Green List (High Evidence).",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:23:28.451250+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDC as Green List (high evidence)",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2023-08-24T16:23:28.438850+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddc has been classified as Green List (High Evidence).",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2023-08-24T15:34:09.981478+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDC was added\ngene: DDC was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643\nReview for gene: DDC was set to GREEN\nAdded comment: Seizures are rare but oculogyric crises, a key feature of this disorder, can be mistaken for seizures. Included for completeness. \nSources: Expert list",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2023-08-24T14:50:43.512568+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: CFTR was added\ngene: CFTR was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Congenital bilateral absence of vas deferens MIM#277180; Cystic fibrosis MIM#219700\nAdded comment: https://www.pharmgkb.org/vip/PA166169453/overview \nSources: Expert list",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2023-08-24T14:43:51.898933+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: CYP3A5 was added\ngene: CYP3A5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: CYP3A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CYP3A5 were set to Hypertension, salt-sensitive essential, susceptibility to MIM#145500\nReview for gene: CYP3A5 was set to GREEN\nAdded comment: Involved in guidelines for tacrolimus.\r\nCYP3A5 expression has extreme interpopulation variability.\r\nAllelic variants at locus increases susceptibility to hypertension.\r\n\r\nhttps://www.pharmgkb.org/gene/PA131/overview \nSources: Expert list",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2023-08-24T14:33:37.592271+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: TPMT was added\ngene: TPMT was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: TPMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TPMT were set to Thiopurines, poor metabolism of, 1 MIM# 610460\nReview for gene: TPMT was set to GREEN\nAdded comment: Alleles in TPMT are in guidelines for thiopurines including mercaptopurine and azathioprine.\r\n\r\nhttps://www.pharmgkb.org/gene/PA356 \nSources: Expert list",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2023-08-24T14:22:38.637388+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: UGT1A1 was added\ngene: UGT1A1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: UGT1A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A1 were set to Hyperbilirubinemia, familial transient neonatal MIM# 237900; Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785\nReview for gene: UGT1A1 was set to GREEN\nAdded comment: Alleles in UGT1A1 are involved in guidelines for atazanavir and irinotecan.\r\n\r\nhttps://www.pharmgkb.org/gene/PA420/overview \nSources: Expert list",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2023-08-24T13:56:45.536439+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "changed review comment from: Monoallelic loss of function variants in this gene are associated with an increased risk of toxicity in cancer patients receiving fluoropyrimidine chemotherapy. Biallelic variants result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria.\r\n\r\nhttps://www.pharmgkb.org/gene/PA145/overview \nSources: Expert list; to: Monoallelic loss of function variants in this gene are associated with an increased risk of toxicity in cancer patients receiving fluoropyrimidine chemotherapy. Biallelic variants result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria.\r\n\r\nhttps://www.pharmgkb.org/gene/PA145/overview \r\nSources: Expert list",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2023-08-24T13:53:53.218125+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "gene: DPYD was added\ngene: DPYD was added to Transplant Co-Morbidity Superpanel. Sources: Expert list\nMode of inheritance for gene: DPYD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MIM#274270; 5-fluorouracil toxicity MIM#274270; Disorders of pyrimidine metabolism\nReview for gene: DPYD was set to GREEN\nAdded comment: Monoallelic loss of function variants in this gene are associated with an increased risk of toxicity in cancer patients receiving fluoropyrimidine chemotherapy. Biallelic variants result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria.\r\n\r\nhttps://www.pharmgkb.org/gene/PA145/overview \nSources: Expert list",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2023-08-23T14:23:50.012786+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.12",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: PSMA5 was added\ngene: PSMA5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: PSMA5 was set to Other\nPublications for gene: PSMA5 were set to PMID: 37600812\nPhenotypes for gene: PSMA5 were set to PRAAS/CANDLE\nReview for gene: PSMA5 was set to RED\nAdded comment: Single patient with heterozygous PSMB8 variant and de-novo PSMA5 truncating variant (p.Arg168*) with clinical features of CANDLE. Patient also had splice site variant in PSMC5. In silico modelling showing interaction of PSMB8 and PSMA5. PSMA5/a5 is a constitutive component of the 20S core proteasome, ? digenic model of disease. \nSources: Literature",
"entity_name": "PSMA5",
"entity_type": "gene"
},
{
"created": "2023-08-23T14:11:04.381057+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.12",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37600812; Phenotypes: CANDLE/PRAAS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:32:13.637234+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: MLH3.",
"entity_name": "MLH3",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:30:11.711043+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MLH1 as ready",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:30:11.699855+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mlh1 has been classified as Green List (High Evidence).",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:29:57.607965+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MLH1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:29:27.506743+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: MLH1.",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:25:11.863076+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MLH1 were changed from to mismatch repair cancer syndrome 1 MONDO:0010159",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:24:06.956279+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MEN1 as ready",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:24:06.943335+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: men1 has been classified as Green List (High Evidence).",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:23:59.275045+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MEN1 were changed from to Multiple endocrine neoplasia 1, MIM# 131100",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:23:16.528742+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:22:50.874454+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: MEN1.",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-08-22T17:22:23.912556+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: MBD4.",
"entity_name": "MBD4",
"entity_type": "gene"
}
]
}