{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=489","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=487","results":[{"created":"2024-02-16T15:56:13.827650+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.264","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: HYLS1 as ready","entity_name":"HYLS1","entity_type":"gene"},{"created":"2024-02-16T15:56:13.815158+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.264","user_name":"Elena Savva","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2024-02-16T15:55:29.676619+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.264","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: HYLS1 were changed from  to Hydrolethalus syndrome MIM#236680","entity_name":"HYLS1","entity_type":"gene"},{"created":"2024-02-16T15:55:09.256019+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.264","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: HYLS1 were set to ","entity_name":"HYLS1","entity_type":"gene"},{"created":"2024-02-16T15:54:47.247341+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.263","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: HYLS1 as Amber List (moderate evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2024-02-16T15:54:47.230427+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.263","user_name":"Elena Savva","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2024-02-16T15:54:35.970982+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.213","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: HYLS1 were set to 15843405; 18648327; 19400947; 19656802; 32509774; 26830932","entity_name":"HYLS1","entity_type":"gene"},{"created":"2024-02-16T15:54:01.060162+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.212","user_name":"Elena Savva","item_type":"entity","text":"edited their review of gene: HYLS1: Added comment: PMID: 34212369 - additional two fetuses with a phenotype of HLS with brain abnormalities, limbs malformations with pre and postaxial hexadactyly and abnormal genitalia. Probands were het for the Finnish founder variant (p.Asp211Gly) but each chet with a novel variant (p.(Arg221Pro, p.(Arg205*)). One fetus had occipital meningocele\r\nmolar tooth sign, the other craniorachischisis; Changed publications: PMID: 26830932, 34212369, 15843405, 18648327, 19400947, 19656802, 32509774; Changed phenotypes: Hydrolethalus syndrome MIM#236680","entity_name":"HYLS1","entity_type":"gene"},{"created":"2024-02-16T15:25:31.773553+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.4","user_name":"Crystle Lee","item_type":"entity","text":"gene: PIEZO1 was added\ngene: PIEZO1 was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIEZO1 were set to PMID: 26333996\nPhenotypes for gene: PIEZO1 were set to Lymphatic malformation 6, MIM#616843\nReview for gene: PIEZO1 was set to GREEN\nAdded comment: Biallelic mutations in PIEZO1 reported in 10 patients from 6 families with generalized lymphatic dysplasia (GLD) This is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. \nSources: Literature","entity_name":"PIEZO1","entity_type":"gene"},{"created":"2024-02-16T10:00:02.411271+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1546","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302725, 36857589; Phenotypes: Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKZF1","entity_type":"gene"},{"created":"2024-02-16T09:57:27.116969+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANKZF1 were set to 28302725","entity_name":"ANKZF1","entity_type":"gene"},{"created":"2024-02-16T09:56:52.732739+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANKZF1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKZF1","entity_type":"gene"},{"created":"2024-02-16T09:56:22.270375+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANKZF1 as Green List (high evidence)","entity_name":"ANKZF1","entity_type":"gene"},{"created":"2024-02-16T09:56:22.252284+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankzf1 has been classified as Green List (High Evidence).","entity_name":"ANKZF1","entity_type":"gene"},{"created":"2024-02-16T09:54:17.982645+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1546","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CARD8 as Amber List (moderate evidence)","entity_name":"CARD8","entity_type":"gene"},{"created":"2024-02-16T09:54:17.973600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1546","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: card8 has been classified as Amber List (Moderate Evidence).","entity_name":"CARD8","entity_type":"gene"},{"created":"2024-02-16T09:53:59.403238+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1545","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CARD8: Added comment: Additional individual reported with JRA and IBD.; Changed rating: AMBER; Changed publications: 29408806, 37724393","entity_name":"CARD8","entity_type":"gene"},{"created":"2024-02-16T09:51:54.116391+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CARD8 as Amber List (moderate evidence)","entity_name":"CARD8","entity_type":"gene"},{"created":"2024-02-16T09:51:54.101348+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: card8 has been classified as Amber List (Moderate Evidence).","entity_name":"CARD8","entity_type":"gene"},{"created":"2024-02-16T09:43:35.791314+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSPA1L as ready","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-16T09:43:35.777212+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspa1l has been classified as Amber List (Moderate Evidence).","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-16T09:43:29.953549+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSPA1L as Amber List (moderate evidence)","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-16T09:43:29.938234+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspa1l has been classified as Amber List (Moderate Evidence).","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-16T09:26:49.450764+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.192","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718","entity_name":"RAB34","entity_type":"gene"},{"created":"2024-02-16T09:26:12.090181+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718","entity_name":"RAB34","entity_type":"gene"},{"created":"2024-02-16T09:25:51.443887+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.516","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718","entity_name":"RAB34","entity_type":"gene"},{"created":"2024-02-16T09:24:14.776298+11:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB34 were changed from Orofaciodigital syndrome 20, MIM#620718 to Orofaciodigital syndrome 20, MIM#620718","entity_name":"RAB34","entity_type":"gene"},{"created":"2024-02-16T09:23:09.749388+11:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718","entity_name":"RAB34","entity_type":"gene"},{"created":"2024-02-16T09:22:30.804967+11:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718","entity_name":"RAB34","entity_type":"gene"},{"created":"2024-02-16T09:21:46.848019+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718","entity_name":"RAB34","entity_type":"gene"},{"created":"2024-02-16T09:21:19.689189+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718","entity_name":"RAB34","entity_type":"gene"},{"created":"2024-02-16T09:20:44.331968+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718","entity_name":"RAB34","entity_type":"gene"},{"created":"2024-02-16T09:20:02.822511+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB34: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome 20, MIM#620718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB34","entity_type":"gene"},{"created":"2024-02-15T19:25:27.840920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1544","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ONECUT1 as ready","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:25:27.816955+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1544","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: onecut1 has been classified as Green List (High Evidence).","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:24:41.138017+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1544","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ONECUT1 as Green List (high evidence)","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:24:41.126109+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1544","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: onecut1 has been classified as Green List (High Evidence).","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:24:25.714178+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1543","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ONECUT1 was added\ngene: ONECUT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ONECUT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ONECUT1 were set to 37639628; 34663987; 10825208\nPhenotypes for gene: ONECUT1 were set to Neonatal diabetes mellitus MONDO:0016391\nReview for gene: ONECUT1 was set to GREEN\nAdded comment: 3 unrelated neonatal diabetes cases with homozygous variants & supporting iPSC/mouse models\r\nPMID: 37639628 - UK biobank study of ONECUT1 variants in neonatal diabetes mellitus (NDM), MODY, and type 2 diabetes. Identified a case with syndromic NDM with a homozygous frameshift (p.Met289Argfs*8). Rare heterozygous variants were not enriched in individuals with suspected MODY (n=484). Heterozygous null variants were significantly associated with type 2 diabetes (p=0.006) as a potential susceptibility gene.\r\n\r\nPMID: 34663987 - 2 consanguineous families with homozygous variants (Glu231Ter or Glu231Asp) in cases with syndromic ND. Directed differentiation of human pluripotent stem cells revealed that loss of ONECUT1 impairs pancreatic progenitor formation.\r\n\r\nPMID: 10825208 - Hnf6 (old gene name) null mice have diabetes \nSources: Literature","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:23:07.018247+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ONECUT1 as ready","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:23:07.000680+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: onecut1 has been classified as Green List (High Evidence).","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:22:12.104028+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ONECUT1 were changed from Syndromic diabetes to Syndromic diabetes; Neonatal diabetes mellitus MONDO:0016391","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:22:01.655505+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ONECUT1 were set to PMID: 34663987","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:21:51.616483+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ONECUT1 as Green List (high evidence)","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:21:51.603161+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: onecut1 has been classified as Green List (High Evidence).","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T19:21:41.340575+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.43","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ONECUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37639628, 34663987, 10825208; Phenotypes: Neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ONECUT1","entity_type":"gene"},{"created":"2024-02-15T18:35:20.219132+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSPA1L was added\ngene: HSPA1L was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: HSPA1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HSPA1L were set to 28126021\nPhenotypes for gene: HSPA1L were set to inflammatory bowel disease, MONDO:0005265, HSPA1L-related\nReview for gene: HSPA1L was set to AMBER\nAdded comment: PMID:28126021 reported the identification of a heterozygous de novo variant (p.Ser277Leu) in HSPA1L in a patient with inflammatory bowel disease. In addition, five additional rare HSPA1L variants (p.Gly77Ser, p.Leu172del, p.Thr267Ile, p.Ala268Thr, p.Glu558Asp) were identified in six patients from a cohort of 136 IBD patients with WES data. Functional studies showed that all six HSPA1L variant proteins showed decreased chaperone activity in vitro. Moreover, three variants demonstrated dominant negative effects on HSPA1L and HSPA1A protein activity.\r\n\r\nHowever, the variants identified are present at relatively high frequencies in gnomad V4, in particular p.Thr267Ile is present in 281 individuals, and the p.Ala268Thr is present in 4,753 individuals. \nSources: Literature","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-15T14:01:23.787509+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1542","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSPA1L as ready","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-15T14:01:23.769330+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1542","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspa1l has been classified as Amber List (Moderate Evidence).","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-15T14:01:08.561610+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1542","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSPA1L as Amber List (moderate evidence)","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-15T14:01:08.545455+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1542","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspa1l has been classified as Amber List (Moderate Evidence).","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-15T13:56:35.483496+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1541","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSPA1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: inflammatory bowel disease, MONDO:0005265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-15T13:48:42.507141+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCGN as ready","entity_name":"SCGN","entity_type":"gene"},{"created":"2024-02-15T13:48:42.490351+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scgn has been classified as Amber List (Moderate Evidence).","entity_name":"SCGN","entity_type":"gene"},{"created":"2024-02-15T13:48:38.359628+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCGN as Amber List (moderate evidence)","entity_name":"SCGN","entity_type":"gene"},{"created":"2024-02-15T13:48:38.352397+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scgn has been classified as Amber List (Moderate Evidence).","entity_name":"SCGN","entity_type":"gene"},{"created":"2024-02-15T13:48:07.909309+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCGN was added\ngene: SCGN was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: SCGN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCGN were set to 31663849\nPhenotypes for gene: SCGN were set to ulcerative colitis, MONDO:0005101\nReview for gene: SCGN was set to AMBER\nAdded comment: PMID:31663849 reported three siblings with homozygous missense SCGN variant and with early-onset ulcerative colitis. Functional studies demonstrated that SCGN variant identified impacted the localisation of the SNARE complex partner, SNAP25, leading to impaired hormone release. In addition, SCGN knockout mouse model recapitulated impaired hormone release and susceptibility to DSS-induced colitis. \nSources: Literature","entity_name":"SCGN","entity_type":"gene"},{"created":"2024-02-15T13:46:49.366564+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCGN as ready","entity_name":"SCGN","entity_type":"gene"},{"created":"2024-02-15T13:46:49.357719+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scgn has been classified as Amber List (Moderate Evidence).","entity_name":"SCGN","entity_type":"gene"},{"created":"2024-02-15T13:46:35.921735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCGN as Amber List (moderate evidence)","entity_name":"SCGN","entity_type":"gene"},{"created":"2024-02-15T13:46:35.906572+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scgn has been classified as Amber List (Moderate Evidence).","entity_name":"SCGN","entity_type":"gene"},{"created":"2024-02-15T13:40:44.794704+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SIRT1 as ready","entity_name":"SIRT1","entity_type":"gene"},{"created":"2024-02-15T13:40:44.776640+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sirt1 has been classified as Red List (Low Evidence).","entity_name":"SIRT1","entity_type":"gene"},{"created":"2024-02-15T13:40:33.980889+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIRT1 was added\ngene: SIRT1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SIRT1 were set to 23473037\nPhenotypes for gene: SIRT1 were set to autoimmune disease, MONDO:0007179, SIRT1-related\nReview for gene: SIRT1 was set to RED\nAdded comment: PMID:23473037 reported the identification of a missense SIRT1 variant (p.Leu107Pro) in five members of a single family and all five of them had autoimmune disorder, four had type I diabetes and one had ulcerative colitis. \nSources: Literature","entity_name":"SIRT1","entity_type":"gene"},{"created":"2024-02-15T13:39:03.663396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SIRT1 as ready","entity_name":"SIRT1","entity_type":"gene"},{"created":"2024-02-15T13:39:03.648362+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sirt1 has been classified as Red List (Low Evidence).","entity_name":"SIRT1","entity_type":"gene"},{"created":"2024-02-15T13:38:55.100964+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SIRT1 as Red List (low evidence)","entity_name":"SIRT1","entity_type":"gene"},{"created":"2024-02-15T13:38:55.089451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sirt1 has been classified as Red List (Low Evidence).","entity_name":"SIRT1","entity_type":"gene"},{"created":"2024-02-15T13:36:16.489982+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNRC6A as ready","entity_name":"TNRC6A","entity_type":"gene"},{"created":"2024-02-15T13:36:16.472915+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnrc6a has been classified as Red List (Low Evidence).","entity_name":"TNRC6A","entity_type":"gene"},{"created":"2024-02-15T13:36:12.791295+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2290","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNRC6A were changed from ?Epilepsy, familial adult myoclonic, 6 MIM#618074 to Epilepsy, familial adult myoclonic, 6 MIM#618074","entity_name":"TNRC6A","entity_type":"gene"},{"created":"2024-02-15T12:21:51.986766+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1539","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: TNRC6A as ready","entity_name":"TNRC6A","entity_type":"gene"},{"created":"2024-02-15T12:21:51.978399+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1539","user_name":"Elena Savva","item_type":"entity","text":"Gene: tnrc6a has been classified as Red List (Low Evidence).","entity_name":"TNRC6A","entity_type":"gene"},{"created":"2024-02-15T12:21:25.382368+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1539","user_name":"Elena Savva","item_type":"entity","text":"gene: TNRC6A was added\ngene: TNRC6A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TNRC6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TNRC6A were set to PMID: 29507423; 33040085\nPhenotypes for gene: TNRC6A were set to ?Epilepsy, familial adult myoclonic, 6 MIM#618074\nReview for gene: TNRC6A was set to RED\nAdded comment: PMID: 29507423;33040085 - intronic expansion in a cohort with familial myoclonic epilepsy, also observed in controls but enriched in the affect cohort.\r\n\r\nGene was listed in the Oliver list \nSources: Literature","entity_name":"TNRC6A","entity_type":"gene"},{"created":"2024-02-15T12:20:37.704578+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2289","user_name":"Elena Savva","item_type":"entity","text":"gene: TNRC6A was added\ngene: TNRC6A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TNRC6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TNRC6A were set to PMID: 29507423; 33040085\nPhenotypes for gene: TNRC6A were set to ?Epilepsy, familial adult myoclonic, 6 MIM#618074\nReview for gene: TNRC6A was set to RED\nAdded comment: PMID: 29507423;33040085 - intronic expansion in a cohort with familial myoclonic epilepsy, also observed in controls but enriched in the affect cohort.\r\n\r\nGene was listed in the Oliver list \nSources: Literature","entity_name":"TNRC6A","entity_type":"gene"},{"created":"2024-02-15T12:20:14.856116+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2289","user_name":"Elena Savva","item_type":"entity","text":"gene: TNRC6A was added\ngene: TNRC6A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TNRC6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TNRC6A were set to PMID: 29507423; 33040085\nPhenotypes for gene: TNRC6A were set to ?Epilepsy, familial adult myoclonic, 6 MIM#618074\nReview for gene: TNRC6A was set to RED\nAdded comment: PMID: 29507423;33040085 - intronic expansion in a cohort with familial myoclonic epilepsy, also observed in controls but enriched in the affect cohort.\r\n\r\nGene was listed in the Oliver list \nSources: Literature","entity_name":"TNRC6A","entity_type":"gene"},{"created":"2024-02-15T11:52:24.447188+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2288","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: TLK2 as ready","entity_name":"TLK2","entity_type":"gene"},{"created":"2024-02-15T11:52:24.436089+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2288","user_name":"Elena Savva","item_type":"entity","text":"Gene: tlk2 has been classified as Amber List (Moderate Evidence).","entity_name":"TLK2","entity_type":"gene"},{"created":"2024-02-15T11:51:21.878975+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2288","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: TLK2 as Amber List (moderate evidence)","entity_name":"TLK2","entity_type":"gene"},{"created":"2024-02-15T11:51:21.863364+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2288","user_name":"Elena Savva","item_type":"entity","text":"Gene: tlk2 has been classified as Amber List (Moderate Evidence).","entity_name":"TLK2","entity_type":"gene"},{"created":"2024-02-15T11:50:24.967153+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2287","user_name":"Elena Savva","item_type":"entity","text":"gene: TLK2 was added\ngene: TLK2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TLK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TLK2 were set to 37662408; 31558842\nPhenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57\tMIM#618050\nReview for gene: TLK2 was set to AMBER\nAdded comment: Seizures (13%) in OMIM\r\n\r\nPMID: 37662408 - NOT PEER REVIEWED. Patient presenting with ID, seizures, global developmental delay, hypothyroidism, and primary immunodeficiency. De novo missense found, but also another de novo PTC in MDM1. Functional studies support missense pathogenicity\r\n\r\nPMID: 31558842 - HOM missense patient with a severe neurodev disorder, parents are clinically unaffected. She presented with epileptic spasms at the age of 6 months. Her EEG showed hypsarrhythmia suggesting West syndrome. She has been seizure-free since 3 years of age. \nSources: Literature","entity_name":"TLK2","entity_type":"gene"},{"created":"2024-02-15T11:16:55.738435+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5698","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: FBXO31: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 45 (MIM#615979); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FBXO31","entity_type":"gene"},{"created":"2024-02-15T11:16:27.454483+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1538","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: FBXO31: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 45 (MIM#615979); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FBXO31","entity_type":"gene"},{"created":"2024-02-15T07:38:48.066855+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1538","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: SIRT1 was added\ngene: SIRT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SIRT1 were set to 23473037\nPhenotypes for gene: SIRT1 were set to autoimmune disease, MONDO:0007179\nReview for gene: SIRT1 was set to RED\nAdded comment: PMID:23473037 reported the identification of a missense SIRT1 variant (p.Leu107Pro) in five members of a single family and all five of them had autoimmune disorder, four had type I diabetes and one had ulcerative colitis. \nSources: Literature","entity_name":"SIRT1","entity_type":"gene"},{"created":"2024-02-15T06:39:39.110884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1538","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: SCGN was added\ngene: SCGN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SCGN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCGN were set to 31663849\nPhenotypes for gene: SCGN were set to ulcerative colitis, MONDO:0005101\nReview for gene: SCGN was set to AMBER\nAdded comment: PMID:31663849 reported three siblings with homozygous missense SCGN variant and with early-onset ulcerative colitis. Functional studies demonstrated that SCGN variant identified impacted the localisation of the SNARE complex partner, SNAP25, leading to impaired hormone release. In addition, SCGN knockout mouse model recapitulated impaired hormone release and susceptibility to DSS-induced colitis. \nSources: Literature","entity_name":"SCGN","entity_type":"gene"},{"created":"2024-02-15T02:49:23.466496+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1538","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: HSPA1L was added\ngene: HSPA1L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HSPA1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HSPA1L were set to 28126021\nPhenotypes for gene: HSPA1L were set to inflammatory bowel disease, MONDO:0005265\nReview for gene: HSPA1L was set to GREEN\nAdded comment: PMID:28126021 reported the identification of a heterozygous de novo variant  (p.Ser277Leu) in HSPA1L in a patient with inflammatory bowel disease. In addition, five additional rare HSPA1L variants (p.Gly77Ser, p.Leu172del, p.Thr267Ile, p.Ala268Thr, p.Glu558Asp) were identified in six patients from a cohort of 136 IBD patients with WES data.\r\n\r\nFunctional studies showed that all six HSPA1L variant proteins showed decreased chaperone activity in vitro. Moreover, three variants demonstrated dominant negative effects on HSPA1L and HSPA1A protein activity. \nSources: Literature","entity_name":"HSPA1L","entity_type":"gene"},{"created":"2024-02-15T02:37:52.914704+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.112","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: CARD8: Rating: AMBER; Mode of pathogenicity: None; Publications: 37724393; Phenotypes: ?Inflammatory bowel disease (Crohn disease) 30, OMIM:619079; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CARD8","entity_type":"gene"},{"created":"2024-02-15T02:34:10.936030+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.112","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: ANKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302725, 36857589; Phenotypes: inflammatory bowel disease, MONDO:0005265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKZF1","entity_type":"gene"},{"created":"2024-02-15T02:23:52.894884+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.31","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: DDHD1 was added\ngene: DDHD1 was added to Neuroferritinopathies. Sources: Literature\nMode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDHD1 were set to 28818478\nPhenotypes for gene: DDHD1 were set to spastic paraplegia; sensory neuropathy\nReview for gene: DDHD1 was set to GREEN\ngene: DDHD1 was marked as current diagnostic\nAdded comment: Sources: Literature","entity_name":"DDHD1","entity_type":"gene"},{"created":"2024-02-15T01:28:14.141851+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.31","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: THAP1 was added\ngene: THAP1 was added to Neuroferritinopathies. Sources: Literature\nMode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THAP1 were set to 38094642; 33665847\nPhenotypes for gene: THAP1 were set to cervical dystonia; dystonia; dystonic tremor\nReview for gene: THAP1 was set to GREEN\ngene: THAP1 was marked as current diagnostic\nAdded comment: 3 published cases; 1 under clinical care with a pathogenic THAP1 variant. \nSources: Literature","entity_name":"THAP1","entity_type":"gene"},{"created":"2024-02-15T01:25:46.507330+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.31","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: SQSTM1 was added\ngene: SQSTM1 was added to Neuroferritinopathies. Sources: Literature\nMode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SQSTM1 were set to 27545679\nPhenotypes for gene: SQSTM1 were set to ataxia; dystonia; gaze palsy; neuroregression; cognitive decline; childhood dementia\nReview for gene: SQSTM1 was set to GREEN\ngene: SQSTM1 was marked as current diagnostic\nAdded comment: Sources: Literature","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2024-02-15T01:13:09.983292+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.31","user_name":"Shekeeb Mohammad","item_type":"entity","text":"reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33680437, 28376267, 34289020; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes","entity_name":"ATP7B","entity_type":"gene"},{"created":"2024-02-14T18:45:26.100411+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLNA as ready","entity_name":"FLNA","entity_type":"gene"},{"created":"2024-02-14T18:45:26.078367+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flna has been classified as Green List (High Evidence).","entity_name":"FLNA","entity_type":"gene"},{"created":"2024-02-14T18:39:30.437464+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2286","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLNA were changed from  to Heterotopia, periventricular, 1, MIM#\t300049","entity_name":"FLNA","entity_type":"gene"},{"created":"2024-02-14T18:38:23.691284+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2285","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FLNA were set to ","entity_name":"FLNA","entity_type":"gene"},{"created":"2024-02-14T18:36:43.846631+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2284","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"FLNA","entity_type":"gene"},{"created":"2024-02-14T18:33:37.600422+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2283","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKTN as ready","entity_name":"FKTN","entity_type":"gene"},{"created":"2024-02-14T18:33:37.585675+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fktn has been classified as Green List (High Evidence).","entity_name":"FKTN","entity_type":"gene"},{"created":"2024-02-14T18:33:28.385372+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2283","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKTN were changed from  to Muscular dystrophy-dystroglycanopathy MONDO:0018276","entity_name":"FKTN","entity_type":"gene"},{"created":"2024-02-14T18:32:56.255117+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2282","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FKTN were set to ","entity_name":"FKTN","entity_type":"gene"}]}