{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=388","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=386","results":[{"created":"2024-09-18T08:44:40.811370+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: WRN was added\ngene: WRN was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRN were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Werner syndrome, MONDO:0010196; Werner syndrome, MIM#277700\nReview for gene: WRN was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"WRN","entity_type":"gene"},{"created":"2024-09-18T08:41:15.145695+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.15","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TP53 as Green List (high evidence)","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-18T08:41:15.131359+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.15","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tp53 has been classified as Green List (High Evidence).","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-18T08:41:09.023693+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RB1 as Green List (high evidence)","entity_name":"RB1","entity_type":"gene"},{"created":"2024-09-18T08:41:09.009144+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rb1 has been classified as Green List (High Evidence).","entity_name":"RB1","entity_type":"gene"},{"created":"2024-09-18T08:41:01.604202+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: EXT2 as Green List (high evidence)","entity_name":"EXT2","entity_type":"gene"},{"created":"2024-09-18T08:41:01.579209+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ext2 has been classified as Green List (High Evidence).","entity_name":"EXT2","entity_type":"gene"},{"created":"2024-09-18T08:40:57.055128+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: EXT1 as Green List (high evidence)","entity_name":"EXT1","entity_type":"gene"},{"created":"2024-09-18T08:40:57.044061+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ext1 has been classified as Green List (High Evidence).","entity_name":"EXT1","entity_type":"gene"},{"created":"2024-09-18T08:40:52.040850+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: WRN as Green List (high evidence)","entity_name":"WRN","entity_type":"gene"},{"created":"2024-09-18T08:40:52.027749+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: wrn has been classified as Green List (High Evidence).","entity_name":"WRN","entity_type":"gene"},{"created":"2024-09-18T08:40:47.354886+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RECQL4 as Green List (high evidence)","entity_name":"RECQL4","entity_type":"gene"},{"created":"2024-09-18T08:40:47.322523+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Gene: recql4 has been classified as Green List (High Evidence).","entity_name":"RECQL4","entity_type":"gene"},{"created":"2024-09-18T08:40:42.573880+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BLM as Green List (high evidence)","entity_name":"BLM","entity_type":"gene"},{"created":"2024-09-18T08:40:42.557933+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Gene: blm has been classified as Green List (High Evidence).","entity_name":"BLM","entity_type":"gene"},{"created":"2024-09-18T08:40:37.713193+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"gene: TP53 was added\ngene: TP53 was added to Sarcoma non-soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP53 were set to Sarcoma, MONDO:0005089; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623\nReview for gene: TP53 was set to GREEN\nAdded comment: ClinGen definitive. Non-soft-tissue sarcomas reported in condition.\r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522). \nSources: Expert list, Expert Review","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-18T08:40:18.318919+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"gene: RB1 was added\ngene: RB1 was added to Sarcoma non-soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RB1 were set to Sarcoma, MONDO:0005089; Retinoblastoma, MONDO:0008380; Retinoblastoma, MIM#180200\nReview for gene: RB1 was set to GREEN\nAdded comment: ClinGen definitive. Non-soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"RB1","entity_type":"gene"},{"created":"2024-09-18T08:39:59.860261+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.6","user_name":"Chirag Patel","item_type":"entity","text":"gene: EXT2 was added\ngene: EXT2 was added to Sarcoma non-soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EXT2 were set to Sarcoma, MONDO:0005089; Exostoses, multiple, type 2, MONDO:0007586; Exostoses, multiple, type 2, MIM#133701\nReview for gene: EXT2 was set to GREEN\nAdded comment: ClinGen definitive. Non-soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"EXT2","entity_type":"gene"},{"created":"2024-09-18T08:39:46.325673+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"gene: EXT1 was added\ngene: EXT1 was added to Sarcoma non-soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EXT1 were set to Sarcoma, MONDO:0005089; Exostoses, multiple, type 1, MONDO:0007585; Exostoses, multiple, type 1, MIM#133700\nReview for gene: EXT1 was set to GREEN\nAdded comment: ClinGen definitive. Non-soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"EXT1","entity_type":"gene"},{"created":"2024-09-18T08:39:27.075192+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"gene: WRN was added\ngene: WRN was added to Sarcoma non-soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRN were set to Sarcoma, MONDO:0005089; Werner syndrome, MONDO:0010196; Werner syndrome, MIM#277700\nReview for gene: WRN was set to GREEN\nAdded comment: ClinGen definitive. Non-soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"WRN","entity_type":"gene"},{"created":"2024-09-18T08:39:13.786280+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"gene: RECQL4 was added\ngene: RECQL4 was added to Sarcoma non-soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RECQL4 were set to Sarcoma, MONDO:0005089; Rothmund-Thomson syndrome type 2, MONDO:0016369; Rothmund-Thomson syndrome, type 2, MIM#268400\nReview for gene: RECQL4 was set to GREEN\nAdded comment: ClinGen definitive. Non-soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"RECQL4","entity_type":"gene"},{"created":"2024-09-18T08:38:57.622785+10:00","panel_name":"Sarcoma non-soft tissue","panel_id":4359,"panel_version":"0.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: BLM was added\ngene: BLM was added to Sarcoma non-soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLM were set to Sarcoma, MONDO:0005089; Bloom syndrome, MONDO:0008876; Bloom syndrome, MIM#210900\nReview for gene: BLM was set to GREEN\nAdded comment: ClinGen definitive. Non-soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"BLM","entity_type":"gene"},{"created":"2024-09-17T16:36:14.999980+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Crystle Lee","item_type":"entity","text":"edited their review of gene: ARPC1B: Changed publications: 36708766, 33679784","entity_name":"ARPC1B","entity_type":"gene"},{"created":"2024-09-17T16:35:12.538817+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36708766; Phenotypes: Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARPC1B","entity_type":"gene"},{"created":"2024-09-17T16:29:57.831545+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: None; Publications: 30359777, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive MIM#616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2024-09-17T16:24:10.140600+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889060; Phenotypes: Developmental and epileptic encephalopathy 48, MIM#617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B2","entity_type":"gene"},{"created":"2024-09-17T16:00:04.522084+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26308914, 22901947, 31319223, 36675067; Phenotypes: autosomal recessive spinocerebellar ataxia 13 MONDO:0013905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GRM1","entity_type":"gene"},{"created":"2024-09-17T15:23:16.875513+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536183, 25851924, 17998446, 6450420; Phenotypes: mucopolysaccharidosis type 3D MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNS","entity_type":"gene"},{"created":"2024-09-17T14:56:39.105268+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GNPTAB: Rating: ; Mode of pathogenicity: None; Publications: 20301728; Phenotypes: GNPTAB-mucolipidosis MONDO:0100122; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2024-09-17T14:35:41.162057+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843043, 19270340, 21990100; Phenotypes: glyceronephosphate O-acyltransferase deficiency MONDO:0100273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPAT","entity_type":"gene"},{"created":"2024-09-17T14:24:19.999079+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35716054, 36574950; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM#608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG8","entity_type":"gene"},{"created":"2024-09-17T14:09:13.141390+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23768512, 26133662, 27147698; Phenotypes: myopathy caused by variation in GMPPB MONDO:0700084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-09-17T14:04:12.453628+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31898852, 35607266; Phenotypes: alacrima, achalasia, and intellectual disability syndrome MONDO:0014219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-09-17T14:02:09.089251+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 36843332, 30676690; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM#613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG11","entity_type":"gene"},{"created":"2024-09-17T14:00:30.099348+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33819415, 20301397; Phenotypes: Tay-Sachs disease AB variant MONDO:0010099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GM2A","entity_type":"gene"},{"created":"2024-09-17T13:51:55.295176+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: Biallelic AIPL1 variants are associated with a spectrum of inherited retinal disease, ranging from severe Leber congenital amaurosis (LCA) to later onset retinitis pigmentosa (RP). Heterozygotes present with a milder, later onset cone rod dystrophy and RP. \r\n\r\nLCA is a congenital-onset, rapid and progressive disease leading to severe vision impariment and/or loss of vision.; to: Biallelic AIPL1 variants are associated with a spectrum of inherited retinal disease, ranging from severe Leber congenital amaurosis (LCA) to later onset retinitis pigmentosa (RP). Heterozygotes present with a milder, later onset cone rod dystrophy and RP. \r\n\r\nLCA is a congenital-onset, rapid and progressive disease leading to severe vision impairment and/or loss of vision.","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-09-17T13:51:39.926396+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33067476; Phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-09-17T13:40:40.658102+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: 16796708, 34702267; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM#274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2024-09-17T13:29:47.081718+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM#264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACOX1","entity_type":"gene"},{"created":"2024-09-17T13:16:25.573020+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983253; Phenotypes: Adrenoleukodystrophy, MIM#300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ABCD1","entity_type":"gene"},{"created":"2024-09-17T09:30:11.118501+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Ee Ming Wong","item_type":"entity","text":"changed review comment from: - Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome.\r\n- Severe, early onset of all three phenotypes have been reported \r\n- Variable expressivity has been reported for Xeroderma pigmentosum, group D, MIM# 278730 where individuals can present with or without mild or severe neurologic abnormalities (GeneReviews)\r\n- OMIM: The location of variants (mutagenic pattern) is consistent in determining the phenotype. Variants shared by both phenotypes are functionally null alleles, and the second / compound heterozygous variant then determines the phenotype. Changes at p.Arg683 are clearly associated with XP, whereas p.Arg112His, p.Arg722Trp, and changes at p.Arg658 are associated with TTD.; to: - Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome.\r\n- Severe, early onset of all three phenotypes have been reported \r\n- Variable expressivity has been reported for Xeroderma pigmentosum, group D, MIM# 278730 where individuals can present with or without mild or severe neurologic abnormalities (GeneReviews)\r\n- OMIM: The location of variants (mutagenic pattern) is consistent in determining the phenotype. Variants shared by both phenotypes are functionally null alleles, and the second / compound heterozygous variant then determines the phenotype. Changes at p.Arg683 are clearly associated with XP, whereas p.Arg112His, p.Arg722Trp, and changes at p.Arg658 are associated with TTD.","entity_name":"ERCC2","entity_type":"gene"},{"created":"2024-09-17T09:29:24.486200+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: 23220543; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"EVC","entity_type":"gene"},{"created":"2024-09-17T08:52:55.761020+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301571, 32047639, 33369099; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, Trichothiodystrophy 1, photosensitive, MIM# 601675, Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: None; Current diagnostic: yes","entity_name":"ERCC2","entity_type":"gene"},{"created":"2024-09-17T08:23:16.407989+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"EPCAM","entity_type":"gene"},{"created":"2024-09-17T08:20:52.509511+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33030252; Phenotypes: Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2024-09-17T06:08:36.254280+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.267","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"changed review comment from: The phenotype listed in the review below, namely, CINCA syndrome, OMIM:607115 is associated with NLRP3 gene rather than NME8 in OMIM. The publications listed below (PMIDs: 12032915, 12483741, 12928894) also reports cases with NLRP3 variants (gene alias: CIAS1) rather than NME8 variants. Hence, this gene should be demoted from green rating and NLRP3 should be added to this panel.; to: The phenotype listed in the review below, namely, CINCA syndrome, OMIM:607115 is associated with NLRP3 gene rather than NME8 in OMIM. The publications listed below (PMIDs: 12032915, 12483741, 12928894) also report cases with NLRP3 variants (gene alias: CIAS1) rather than NME8 variants. Hence, this gene should be demoted from green rating and NLRP3 should be added to this panel.","entity_name":"NME8","entity_type":"gene"},{"created":"2024-09-16T14:30:40.672462+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2013","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 6962066, 8896567, 9384616, 35549678, 24389071, 25266922, 21646031; Phenotypes: glycogen storage disease IXc MONDO:0013091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHKG2","entity_type":"gene"},{"created":"2024-09-16T14:20:14.527250+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2013","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28041644, 28176794, 32170493, 38051289, 33106461, 38408845, 33635866; Phenotypes: ciliary dyskinesia, primary, 36, X-linked MONDO:0010517; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIH1D3","entity_type":"gene"},{"created":"2024-09-16T13:51:21.568072+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2013","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24686847, 24995871, 25620204, 30219631, 31898846; Phenotypes: IFIH1-related type 1 interferonopathy MONDO:0700262; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IFIH1","entity_type":"gene"},{"created":"2024-09-16T13:22:25.343044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2013","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 36662884, 36917008, 29537367, 29408330; Phenotypes: combined immunodeficiency MONDO:0015131; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF4","entity_type":"gene"},{"created":"2024-09-16T12:14:54.131272+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2013","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22992148, 12910268, 14564357, 15893695, 32423680, 35570134, 17560278; Phenotypes: hyper-IgM syndrome type 2 MONDO:0011528; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"AICDA","entity_type":"gene"},{"created":"2024-09-13T19:00:37.219795+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSAT1 as ready","entity_name":"PSAT1","entity_type":"gene"},{"created":"2024-09-13T19:00:37.193261+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psat1 has been classified as Green List (High Evidence).","entity_name":"PSAT1","entity_type":"gene"},{"created":"2024-09-13T19:00:22.771377+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.304","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSAT1 were changed from Neu-Laxova syndrome 2, 616038 (3) to Phosphoserine aminotransferase deficiency MIM#610992; Neu-Laxova syndrome 2 MIM#616038","entity_name":"PSAT1","entity_type":"gene"},{"created":"2024-09-13T18:58:40.655495+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.303","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSAT1 were set to ","entity_name":"PSAT1","entity_type":"gene"},{"created":"2024-09-13T17:24:19.698483+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN54 as ready","entity_name":"TSEN54","entity_type":"gene"},{"created":"2024-09-13T17:24:19.686687+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen54 has been classified as Red List (Low Evidence).","entity_name":"TSEN54","entity_type":"gene"},{"created":"2024-09-13T17:24:05.342502+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSEN54 as Red List (low evidence)","entity_name":"TSEN54","entity_type":"gene"},{"created":"2024-09-13T17:24:05.321135+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen54 has been classified as Red List (Low Evidence).","entity_name":"TSEN54","entity_type":"gene"},{"created":"2024-09-13T16:59:57.752612+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DIAPH1 as ready","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2024-09-13T16:59:57.742552+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: diaph1 has been classified as Green List (High Evidence).","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2024-09-13T16:58:51.559418+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DIAPH1 were changed from  to progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2024-09-13T16:58:12.244343+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6221","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DIAPH1 were set to 24781755; 26463574","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2024-09-13T16:57:44.608736+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6220","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DIAPH1 were set to ","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2024-09-13T16:57:21.967176+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6220","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DIAPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2024-09-13T16:56:40.895673+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6219","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2024-09-13T16:47:58.574368+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6219","user_name":"Ken Lee Wan","item_type":"entity","text":"reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20202148; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"EIF2AK3","entity_type":"gene"},{"created":"2024-09-13T16:28:56.907070+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6219","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC1H1 as ready","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2024-09-13T16:28:56.883404+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6219","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync1h1 has been classified as Green List (High Evidence).","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2024-09-13T16:22:56.830973+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6219","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DYNC1H1 were changed from  to dyneinopathy MONDO:1040031","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2024-09-13T16:22:13.552001+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6218","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2024-09-13T16:21:23.698980+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TP53 as ready","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-13T16:21:23.673416+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tp53 has been classified as Green List (High Evidence).","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-13T16:21:16.449038+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STK11 as ready","entity_name":"STK11","entity_type":"gene"},{"created":"2024-09-13T16:21:16.438485+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stk11 has been classified as Green List (High Evidence).","entity_name":"STK11","entity_type":"gene"},{"created":"2024-09-13T16:21:09.006512+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMS2 as ready","entity_name":"PMS2","entity_type":"gene"},{"created":"2024-09-13T16:21:08.983961+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pms2 has been classified as Green List (High Evidence).","entity_name":"PMS2","entity_type":"gene"},{"created":"2024-09-13T16:21:00.413793+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PALB2 as ready","entity_name":"PALB2","entity_type":"gene"},{"created":"2024-09-13T16:21:00.392581+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: palb2 has been classified as Green List (High Evidence).","entity_name":"PALB2","entity_type":"gene"},{"created":"2024-09-13T16:20:53.051582+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSH6 as ready","entity_name":"MSH6","entity_type":"gene"},{"created":"2024-09-13T16:20:53.036499+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msh6 has been classified as Green List (High Evidence).","entity_name":"MSH6","entity_type":"gene"},{"created":"2024-09-13T16:20:45.655945+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSH2 as ready","entity_name":"MSH2","entity_type":"gene"},{"created":"2024-09-13T16:20:45.638012+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msh2 has been classified as Green List (High Evidence).","entity_name":"MSH2","entity_type":"gene"},{"created":"2024-09-13T16:20:38.245543+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MLH1 as ready","entity_name":"MLH1","entity_type":"gene"},{"created":"2024-09-13T16:20:38.233493+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlh1 has been classified as Green List (High Evidence).","entity_name":"MLH1","entity_type":"gene"},{"created":"2024-09-13T16:20:30.826270+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPCAM as ready","entity_name":"EPCAM","entity_type":"gene"},{"created":"2024-09-13T16:20:30.805177+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epcam has been classified as Green List (High Evidence).","entity_name":"EPCAM","entity_type":"gene"},{"created":"2024-09-13T16:20:24.853917+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKN2A as ready","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2024-09-13T16:20:24.838074+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn2a has been classified as Green List (High Evidence).","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2024-09-13T16:19:34.893747+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRCA2 as ready","entity_name":"BRCA2","entity_type":"gene"},{"created":"2024-09-13T16:19:34.881718+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brca2 has been classified as Green List (High Evidence).","entity_name":"BRCA2","entity_type":"gene"},{"created":"2024-09-13T16:19:24.573550+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRCA1 as ready","entity_name":"BRCA1","entity_type":"gene"},{"created":"2024-09-13T16:19:24.558537+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brca1 has been classified as Green List (High Evidence).","entity_name":"BRCA1","entity_type":"gene"},{"created":"2024-09-13T16:19:15.948459+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATM as ready","entity_name":"ATM","entity_type":"gene"},{"created":"2024-09-13T16:19:15.938103+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atm has been classified as Green List (High Evidence).","entity_name":"ATM","entity_type":"gene"},{"created":"2024-09-13T16:18:52.365082+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.302","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GMPPA as ready","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-09-13T16:18:52.351107+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.302","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gmppa has been classified as Green List (High Evidence).","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-09-13T16:18:47.987701+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.302","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome, 615510 (3) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM#615510)","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-09-13T16:18:33.540473+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.301","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GMPPA were set to ","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-09-13T16:18:02.427764+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.300","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GMPPB as ready","entity_name":"GMPPB","entity_type":"gene"}]}