{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=695","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=693","results":[{"created":"2022-11-16T12:36:27.149698+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slf2 has been classified as Green List (High Evidence).","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:36:22.706552+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLF2 as Green List (high evidence)","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:36:22.697236+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slf2 has been classified as Green List (High Evidence).","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:36:12.763399+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLF2 was added\ngene: SLF2 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLF2 were set to 36333305\nPhenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID\nReview for gene: SLF2 was set to GREEN\nAdded comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model. \nSources: Literature","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:35:14.581363+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5022","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLF2 as ready","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:35:14.564830+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5022","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slf2 has been classified as Green List (High Evidence).","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:35:09.126329+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5022","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLF2 as Green List (high evidence)","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:35:09.115308+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5022","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slf2 has been classified as Green List (High Evidence).","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:34:36.537281+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5021","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLF2 was added\ngene: SLF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLF2 were set to 36333305\nPhenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID\nReview for gene: SLF2 was set to GREEN\nAdded comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model. \nSources: Literature","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:33:49.561456+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLF2 were changed from Atelis syndrome; microcephaly; short stature; ID to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:33:19.297317+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLF2: Changed phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related, Atelis syndrome, microcephaly, short stature, ID","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:31:31.478102+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLF2: Changed phenotypes: Multiple congenital anomalies/dysmorphic syndrome, SLF2-related, Atelis syndrome, microcephaly, short stature, ID","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:28:48.721528+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLF2 as ready","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T12:28:48.712956+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slf2 has been classified as Green List (High Evidence).","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T11:46:07.280294+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLF2 as Green List (high evidence)","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T11:46:07.272262+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slf2 has been classified as Green List (High Evidence).","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T11:28:02.934792+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.164","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLF2 was added\ngene: SLF2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLF2 were set to 36333305\nPhenotypes for gene: SLF2 were set to Atelis syndrome; microcephaly; short stature; ID\nReview for gene: SLF2 was set to GREEN\nAdded comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model. \nSources: Literature","entity_name":"SLF2","entity_type":"gene"},{"created":"2022-11-16T03:29:12.608868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.465","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: TPR was added\ngene: TPR was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPR were set to 34494102\nPhenotypes for gene: TPR were set to intellectual disability, MONDO:0001071; cerebellar ataxia, MONDO:0000437; microcephaly, MONDO:0001149\nReview for gene: TPR was set to RED\nAdded comment: This gene should be added to the following diseases: Intellectual disability, microcephaly and ataxia.\r\n\r\nComment on classification of this gene: This gene should be added with a RED rating as the association is based on biallelic variants identified from a report of two siblings.\r\n\r\nTwo siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. \r\n\r\nFunctional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.\r\n\r\nThis gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature","entity_name":"TPR","entity_type":"gene"},{"created":"2022-11-16T01:22:16.366498+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.465","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34476477; Phenotypes: Neurofibromatosis, type 1, MIM# 162200, MONDO:0018975, renovascular hypertension, MONDO:0006947; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"NF1","entity_type":"gene"},{"created":"2022-11-15T14:26:15.195170+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 7735507, PMID: 30586926; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIM37","entity_type":"gene"},{"created":"2022-11-15T14:21:10.879488+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TRIOBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:16385457, 16385458; Phenotypes: Deafness, autosomal recessive 28 MIM#609823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIOBP","entity_type":"gene"},{"created":"2022-11-15T13:46:43.938014+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"edited their review of gene: TRMU: Changed rating: GREEN","entity_name":"TRMU","entity_type":"gene"},{"created":"2022-11-15T13:46:27.811491+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"changed review comment from: Onset first 6 months of life \r\nAcute liver failure, transient\r\nTreatment: N-acetylcysteine and L-cysteine, liver transplantation; to: Established gene disease association \r\nOnset first 6 months of life \r\nAcute liver failure, transient\r\nTreatment: N-acetylcysteine and L-cysteine, liver transplantation","entity_name":"TRMU","entity_type":"gene"},{"created":"2022-11-15T13:46:11.564863+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"Deleted their comment","entity_name":"TRMU","entity_type":"gene"},{"created":"2022-11-15T13:46:01.540305+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"commented on gene: TRMU: Onset first 6 months of life \r\nAcute liver failure, transient\r\nTreatment: N-acetylcysteine and L-cysteine, liver transplantation","entity_name":"TRMU","entity_type":"gene"},{"created":"2022-11-15T13:46:00.363970+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TRMU: Rating: ; Mode of pathogenicity: None; Publications: PubMed: 19732863, PMID: 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRMU","entity_type":"gene"},{"created":"2022-11-15T13:39:17.251573+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 19726882, PMID: 33381229; Phenotypes: Progressive familial heart block, type IB 604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRPM4","entity_type":"gene"},{"created":"2022-11-15T13:18:57.529275+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301399; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TSC1","entity_type":"gene"},{"created":"2022-11-15T13:17:00.863224+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21309039, PMID: 11112665, PMID: 24053983 , PMID: 20301399; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TSC2","entity_type":"gene"},{"created":"2022-11-15T13:11:19.036487+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301773; Phenotypes: Pontocerebellar hypoplasia type 2A MIM#277470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN54","entity_type":"gene"},{"created":"2022-11-15T12:56:40.955152+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31166470, PMID: 35102753, MID: 31384098; Phenotypes: Hypothyroidism, congenital, nongoitrous 4 MIM#275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSHB","entity_type":"gene"},{"created":"2022-11-15T12:52:09.049725+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8981017, PMID: 20515734; Phenotypes: HYPERTHYROIDISM, FAMILIAL GESTATIONAL HYPERTHYROIDISM, NONAUTOIMMUNE HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CHNG1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TSHR","entity_type":"gene"},{"created":"2022-11-15T12:26:12.692732+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24942156, 11424144; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MIM#300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TSR2","entity_type":"gene"},{"created":"2022-11-15T12:05:49.565625+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21258341, PMID: 25492405, PMID: 33547761; Phenotypes: NEPHRONOPHTHISIS, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TTC21B","entity_type":"gene"},{"created":"2022-11-15T11:48:25.975701+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29527791, PMID: 29334452; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC37","entity_type":"gene"},{"created":"2022-11-15T11:33:03.484341+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30553809, PMID: 34975848, PMID: 33746097; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC7A","entity_type":"gene"},{"created":"2022-11-15T11:22:59.881321+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5020","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: SPTBN5: Rating: ; Mode of pathogenicity: Other; Publications: 36117916, 36238261; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPTBN5","entity_type":"gene"},{"created":"2022-11-12T19:43:25.060010+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.465","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IRF2BP2 were set to 27016798","entity_name":"IRF2BP2","entity_type":"gene"},{"created":"2022-11-12T19:03:17.645085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.464","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IRF2BP2 as Green List (high evidence)","entity_name":"IRF2BP2","entity_type":"gene"},{"created":"2022-11-12T19:03:17.626206+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.464","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf2bp2 has been classified as Green List (High Evidence).","entity_name":"IRF2BP2","entity_type":"gene"},{"created":"2022-11-12T19:02:58.500891+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.463","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IRF2BP2: Added comment: Reports of additional patients: 4yo with chronic diarrhea, severe eczema, anemia, failure to thrive, fevers, short stature, recurrent infections, cataracts, hypodontia, hypotrichosis alopecia, hypogammaglobulinemia. The 33-year-old male presented with recurrent respiratory infections since childhood, colitis and RA beginning at age 25 years.; Changed rating: GREEN; Changed publications: 27016798, 32048120, 36193988, 33864888; Changed phenotypes: Immunodeficiency, common variable, 14, MIM# 617765","entity_name":"IRF2BP2","entity_type":"gene"},{"created":"2022-11-12T19:02:25.538063+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IRF2BP2 were set to 27016798","entity_name":"IRF2BP2","entity_type":"gene"},{"created":"2022-11-12T19:01:57.352260+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IRF2BP2 as Green List (high evidence)","entity_name":"IRF2BP2","entity_type":"gene"},{"created":"2022-11-12T19:01:57.343432+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf2bp2 has been classified as Green List (High Evidence).","entity_name":"IRF2BP2","entity_type":"gene"},{"created":"2022-11-12T19:01:23.419935+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IRF2BP2: Added comment: Reports of additional patients: 4yo with chronic diarrhea, severe eczema, anemia, failure to thrive, fevers, short stature, recurrent infections, cataracts, hypodontia, hypotrichosis alopecia, hypogammaglobulinemia. The 33-year-old male presented with recurrent respiratory infections since childhood, colitis and RA beginning at age 25 years.; Changed rating: GREEN; Changed publications: 27016798, 32048120, 36193988, 33864888; Changed phenotypes: Immunodeficiency, common variable, 14, MIM# 617765","entity_name":"IRF2BP2","entity_type":"gene"},{"created":"2022-11-12T11:05:03.825707+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5020","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115","entity_name":"MAST3","entity_type":"gene"},{"created":"2022-11-12T11:04:34.433354+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5019","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAST3: Changed phenotypes: Developmental and epileptic encephalopathy 108, MIM#620115","entity_name":"MAST3","entity_type":"gene"},{"created":"2022-11-12T11:04:07.303862+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1802","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115","entity_name":"MAST3","entity_type":"gene"},{"created":"2022-11-12T11:03:26.217749+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAST3: Changed phenotypes: Developmental and epileptic encephalopathy 108, MIM#620115","entity_name":"MAST3","entity_type":"gene"},{"created":"2022-11-12T11:02:49.646029+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.463","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115","entity_name":"MAST3","entity_type":"gene"},{"created":"2022-11-12T11:02:24.678424+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.462","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAST3: Changed phenotypes: Developmental and epileptic encephalopathy 108, MIM#620115","entity_name":"MAST3","entity_type":"gene"},{"created":"2022-11-12T10:59:40.624512+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.462","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5F1 as ready","entity_name":"ATP5F1","entity_type":"gene"},{"created":"2022-11-12T10:59:40.604880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.462","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5f1 has been classified as Red List (Low Evidence).","entity_name":"ATP5F1","entity_type":"gene"},{"created":"2022-11-12T10:59:29.776268+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.462","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP5F1 was added\ngene: ATP5F1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ATP5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5F1 were set to 36239646\nPhenotypes for gene: ATP5F1 were set to Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085\nReview for gene: ATP5F1 was set to RED\nAdded comment: Identical twins reported with a de novo missense variant in this gene and hyper metabolism: normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrated increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect \nSources: Expert list","entity_name":"ATP5F1","entity_type":"gene"},{"created":"2022-11-12T10:57:45.689966+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.844","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5F1 as ready","entity_name":"ATP5F1","entity_type":"gene"},{"created":"2022-11-12T10:57:45.681991+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5f1 has been classified as Red List (Low Evidence).","entity_name":"ATP5F1","entity_type":"gene"},{"created":"2022-11-12T10:57:28.195019+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.844","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP5F1 was added\ngene: ATP5F1 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: ATP5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5F1 were set to 36239646\nPhenotypes for gene: ATP5F1 were set to Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085\nReview for gene: ATP5F1 was set to RED\nAdded comment: Identical twins reported with a de novo missense variant in this gene and hyper metabolism: normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrated increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect \nSources: Expert list","entity_name":"ATP5F1","entity_type":"gene"},{"created":"2022-11-11T17:43:27.882820+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.461","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DUOX2 as Green List (high evidence)","entity_name":"DUOX2","entity_type":"gene"},{"created":"2022-11-11T17:43:27.872563+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.461","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: duox2 has been classified as Green List (High Evidence).","entity_name":"DUOX2","entity_type":"gene"},{"created":"2022-11-11T17:42:43.854615+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DUOX2.","entity_name":"DUOX2","entity_type":"gene"},{"created":"2022-11-11T17:42:03.022027+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DUOX2 as ready","entity_name":"DUOX2","entity_type":"gene"},{"created":"2022-11-11T17:42:03.012039+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: duox2 has been classified as Green List (High Evidence).","entity_name":"DUOX2","entity_type":"gene"},{"created":"2022-11-11T17:41:59.291879+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.890","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DUOX2 were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 6, MIM# 607200","entity_name":"DUOX2","entity_type":"gene"},{"created":"2022-11-11T17:41:46.289195+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DUOX2.","entity_name":"DUOX2","entity_type":"gene"},{"created":"2022-11-11T17:41:34.614305+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6, MIM# 607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DUOX2","entity_type":"gene"},{"created":"2022-11-11T17:39:25.755754+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOK7 as ready","entity_name":"DOK7","entity_type":"gene"},{"created":"2022-11-11T17:39:25.745207+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dok7 has been classified as Green List (High Evidence).","entity_name":"DOK7","entity_type":"gene"},{"created":"2022-11-11T17:39:11.480188+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DOK7.","entity_name":"DOK7","entity_type":"gene"},{"created":"2022-11-11T17:39:00.551580+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOK7","entity_type":"gene"},{"created":"2022-11-11T17:33:22.545158+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.460","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DOCK8.","entity_name":"DOCK8","entity_type":"gene"},{"created":"2022-11-11T17:33:12.722756+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK8 as ready","entity_name":"DOCK8","entity_type":"gene"},{"created":"2022-11-11T17:33:12.713408+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock8 has been classified as Green List (High Evidence).","entity_name":"DOCK8","entity_type":"gene"},{"created":"2022-11-11T17:33:03.930158+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DOCK8.","entity_name":"DOCK8","entity_type":"gene"},{"created":"2022-11-11T17:32:53.891407+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK8","entity_type":"gene"},{"created":"2022-11-11T17:29:40.236506+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DNMT3B.","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-11-11T17:29:25.729742+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DNMT3B.","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-11-11T17:29:06.896290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.460","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DNMT3B.","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-11-11T17:28:51.026385+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DNMT3B.","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-11-11T17:28:41.916184+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DNMT3B.","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-11-11T17:27:47.002791+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNMT3B as ready","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-11-11T17:27:46.990632+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnmt3b has been classified as Green List (High Evidence).","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-11-11T17:27:42.512484+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.889","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNMT3B were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome 1 to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-11-11T17:27:26.292100+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.888","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2022-11-11T17:25:13.232267+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.888","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNM2 as ready","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-11-11T17:25:13.223644+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.888","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnm2 has been classified as Red List (Low Evidence).","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-11-11T17:25:08.753446+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.888","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNM2 were changed from Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-11-11T17:24:54.547086+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.887","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNM2 as Red List (low evidence)","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-11-11T17:24:54.532886+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.887","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnm2 has been classified as Red List (Low Evidence).","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-11-11T17:24:42.782861+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.886","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-11-11T17:22:31.112992+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.886","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJB6 as ready","entity_name":"DNAJB6","entity_type":"gene"},{"created":"2022-11-11T17:22:31.103491+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.886","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb6 has been classified as Green List (High Evidence).","entity_name":"DNAJB6","entity_type":"gene"},{"created":"2022-11-11T17:22:24.653714+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.886","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJB6 were changed from Muscular dystrophy, limb girdle to Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511","entity_name":"DNAJB6","entity_type":"gene"},{"created":"2022-11-11T17:22:08.771211+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.885","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNAJB6","entity_type":"gene"},{"created":"2022-11-11T17:19:51.216558+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.885","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAI1 as ready","entity_name":"DNAI1","entity_type":"gene"},{"created":"2022-11-11T17:19:51.208363+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.885","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnai1 has been classified as Red List (Low Evidence).","entity_name":"DNAI1","entity_type":"gene"},{"created":"2022-11-11T17:19:42.611513+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.885","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400","entity_name":"DNAI1","entity_type":"gene"},{"created":"2022-11-11T17:19:29.337351+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.884","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAI1 as Red List (low evidence)","entity_name":"DNAI1","entity_type":"gene"},{"created":"2022-11-11T17:19:29.325382+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.884","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnai1 has been classified as Red List (Low Evidence).","entity_name":"DNAI1","entity_type":"gene"},{"created":"2022-11-11T17:19:12.807524+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.883","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAI1","entity_type":"gene"},{"created":"2022-11-11T17:09:42.150153+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.883","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAH5 as ready","entity_name":"DNAH5","entity_type":"gene"}]}