{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=702","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=700","results":[{"created":"2022-11-03T14:27:01.981491+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXI3 as ready","entity_name":"FOXI3","entity_type":"gene"},{"created":"2022-11-03T14:27:01.970607+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxi3 has been classified as Green List (High Evidence).","entity_name":"FOXI3","entity_type":"gene"},{"created":"2022-11-03T14:26:59.544191+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXI3 were changed from Craniofacial microsomia to Dysostosis with predominant craniofacial involvement (MONDO:0800085)","entity_name":"FOXI3","entity_type":"gene"},{"created":"2022-11-03T14:26:39.369856+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXI3","entity_type":"gene"},{"created":"2022-11-03T14:26:05.308514+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXI3 as Green List (high evidence)","entity_name":"FOXI3","entity_type":"gene"},{"created":"2022-11-03T14:26:05.300495+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxi3 has been classified as Green List (High Evidence).","entity_name":"FOXI3","entity_type":"gene"},{"created":"2022-11-03T14:24:14.732020+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.437","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FOXI3 was added\ngene: FOXI3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXI3 were set to 36260083\nPhenotypes for gene: FOXI3 were set to Dysostosis with predominant craniofacial involvement (MONDO:0800085)\nPenetrance for gene: FOXI3 were set to Incomplete\nReview for gene: FOXI3 was set to GREEN\ngene: FOXI3 was marked as current diagnostic\nAdded comment: Ten affected individuals from 4 families reported with monoallelic variants, 2 with missense variants affecting the nuclear localisation sequence and 2 with frameshift variants.\r\n\r\nThe missense variants were associated with isolated microtia with aural atresia and affected subcellular localisation of the protein, while the frameshift variants were associated with microtia and mandubular hypoplasia, suggesting dosage sensitivity.\r\n\r\nRated green but CAUTION for incomplete penetrance. 3 of the 4 families had unaffected carriers. Family 1 in particular had 25 genotyped individuals, of which 15 were carriers, of which 5 were affected. \nSources: Literature","entity_name":"FOXI3","entity_type":"gene"},{"created":"2022-11-03T14:22:57.187370+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.1","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: FOXI3: Changed phenotypes: Dysostosis with predominant craniofacial involvement (MONDO:0800085)","entity_name":"FOXI3","entity_type":"gene"},{"created":"2022-11-03T14:20:37.295822+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.1","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FOXI3 was added\ngene: FOXI3 was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature\nMode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXI3 were set to 36260083\nPhenotypes for gene: FOXI3 were set to Craniofacial microsomia\nPenetrance for gene: FOXI3 were set to Incomplete\nReview for gene: FOXI3 was set to GREEN\ngene: FOXI3 was marked as current diagnostic\nAdded comment: Ten affected individuals from 4 families reported with monoallelic variants, 2 with missense variants affecting the nuclear localisation sequence and 2 with frameshift variants. \r\n\r\nThe missense variants were associated with isolated microtia with aural atresia and affected subcellular localisation of the protein, while the frameshift variants were associated with microtia and mandubular hypoplasia, suggesting dosage sensitivity.\r\n\r\nRated green but CAUTION for incomplete penetrance. 3 of the 4 families had unaffected carriers. Family 1 in particular had 25 genotyped individuals, of which 15 were carriers, of which 5 were affected. \nSources: Literature","entity_name":"FOXI3","entity_type":"gene"},{"created":"2022-11-03T14:17:19.243159+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.228","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CBFB as ready","entity_name":"CBFB","entity_type":"gene"},{"created":"2022-11-03T14:17:19.234673+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.228","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cbfb has been classified as Green List (High Evidence).","entity_name":"CBFB","entity_type":"gene"},{"created":"2022-11-03T14:17:12.317460+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.228","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: CBFB as Green List (high evidence)","entity_name":"CBFB","entity_type":"gene"},{"created":"2022-11-03T14:17:12.307898+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.228","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cbfb has been classified as Green List (High Evidence).","entity_name":"CBFB","entity_type":"gene"},{"created":"2022-11-03T14:16:47.906927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.437","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-11-03T14:16:45.866141+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.227","user_name":"Ain Roesley","item_type":"entity","text":"gene: CBFB was added\ngene: CBFB was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CBFB were set to 36241386\nPhenotypes for gene: CBFB were set to cleidocranial dysplasia (MONDO#0007340), CBFB-related\nPenetrance for gene: CBFB were set to Complete\nReview for gene: CBFB was set to GREEN\ngene: CBFB was marked as current diagnostic\nAdded comment: 5 families with 8 individuals, including 2 de novos and 1 intragenic exon 4 deletion\r\n\r\nIn 1 family, the mother did not report skeletal concerns but had dental abnormalities during childhood \nSources: Literature","entity_name":"CBFB","entity_type":"gene"},{"created":"2022-11-03T14:16:22.454488+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.436","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TOMM7: Changed publications: 36299998, 36282599","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-11-03T14:15:56.366134+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.436","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TOMM7: Added comment: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.\r\n\r\nMaintain Amber rating as the two patients have quite disparate clinical presentations.; Changed publications: 36282599","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-11-03T14:15:04.380045+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.842","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; to: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.\r\n\r\nMaintain Amber rating as the two patients have quite disparate clinical presentations.","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-11-03T14:15:04.087699+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.436","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CBFB as ready","entity_name":"CBFB","entity_type":"gene"},{"created":"2022-11-03T14:15:04.067936+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.436","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cbfb has been classified as Green List (High Evidence).","entity_name":"CBFB","entity_type":"gene"},{"created":"2022-11-03T14:14:45.251731+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.436","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: CBFB as Green List (high evidence)","entity_name":"CBFB","entity_type":"gene"},{"created":"2022-11-03T14:14:45.235034+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.436","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cbfb has been classified as Green List (High Evidence).","entity_name":"CBFB","entity_type":"gene"},{"created":"2022-11-03T14:14:35.999579+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.842","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TOMM7: Changed rating: AMBER","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-11-03T14:14:27.046187+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.842","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TOMM7: Added comment: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; Changed rating: GREEN; Changed publications: 36299998, 36282599","entity_name":"TOMM7","entity_type":"gene"},{"created":"2022-11-03T14:14:20.736066+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.435","user_name":"Ain Roesley","item_type":"entity","text":"gene: CBFB was added\ngene: CBFB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CBFB were set to 36241386\nPhenotypes for gene: CBFB were set to cleidocranial dysplasia (MONDO#0007340), CBFB-related\nPenetrance for gene: CBFB were set to Complete\nReview for gene: CBFB was set to GREEN\ngene: CBFB was marked as current diagnostic\nAdded comment: 5 families with 8 individuals, including 2 de novos and 1 intragenic exon 4 deletion\r\n\r\nIn 1 family, the mother did not report skeletal concerns but had dental abnormalities during childhood \nSources: Literature","entity_name":"CBFB","entity_type":"gene"},{"created":"2022-11-03T12:43:02.266316+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.793","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: UBR1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24599544; Phenotypes: Johanson-Blizzard syndrome MIM#243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UBR1","entity_type":"gene"},{"created":"2022-11-03T11:58:55.354106+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IMPAD1 as ready","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-11-03T11:58:55.345404+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: impad1 has been classified as Green List (High Evidence).","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-11-03T11:58:49.759614+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IMPAD1 as Green List (high evidence)","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-11-03T11:58:49.750987+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: impad1 has been classified as Green List (High Evidence).","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2022-11-03T11:58:15.132153+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FZD2 as ready","entity_name":"FZD2","entity_type":"gene"},{"created":"2022-11-03T11:58:15.123075+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd2 has been classified as Green List (High Evidence).","entity_name":"FZD2","entity_type":"gene"},{"created":"2022-11-03T11:58:09.077047+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FZD2 as Green List (high evidence)","entity_name":"FZD2","entity_type":"gene"},{"created":"2022-11-03T11:58:09.068506+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd2 has been classified as Green List (High Evidence).","entity_name":"FZD2","entity_type":"gene"},{"created":"2022-11-03T11:57:21.482052+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FIG4 as ready","entity_name":"FIG4","entity_type":"gene"},{"created":"2022-11-03T11:57:21.463973+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fig4 has been classified as Green List (High Evidence).","entity_name":"FIG4","entity_type":"gene"},{"created":"2022-11-03T11:57:14.894295+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FIG4 as Green List (high evidence)","entity_name":"FIG4","entity_type":"gene"},{"created":"2022-11-03T11:57:14.885249+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fig4 has been classified as Green List (High Evidence).","entity_name":"FIG4","entity_type":"gene"},{"created":"2022-11-03T11:57:11.768478+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.793","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26595536, PMID: 29448836; Phenotypes: Crigler-Najjar syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2022-11-03T11:56:39.213955+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B4GALT7 as ready","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2022-11-03T11:56:39.204758+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b4galt7 has been classified as Green List (High Evidence).","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2022-11-03T11:56:35.185538+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B4GALT7 as Green List (high evidence)","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2022-11-03T11:56:35.177109+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b4galt7 has been classified as Green List (High Evidence).","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2022-11-03T11:56:04.882028+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B3GLCT as ready","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2022-11-03T11:56:04.860937+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3glct has been classified as Green List (High Evidence).","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2022-11-03T11:56:00.253704+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B3GLCT as Green List (high evidence)","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2022-11-03T11:56:00.244569+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3glct has been classified as Green List (High Evidence).","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2022-11-03T11:55:21.114665+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B3GAT3 as ready","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2022-11-03T11:55:21.105861+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3gat3 has been classified as Green List (High Evidence).","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2022-11-03T11:55:02.716544+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2022-11-03T11:54:39.436780+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B3GAT3 as Green List (high evidence)","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2022-11-03T11:54:39.427864+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3gat3 has been classified as Green List (High Evidence).","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2022-11-03T11:54:03.024828+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-11-03T11:54:03.011316+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-11-03T11:53:58.227510+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG9 as Green List (high evidence)","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-11-03T11:53:58.218608+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-11-03T11:53:20.030987+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG3 as ready","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-11-03T11:53:20.014388+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg3 has been classified as Green List (High Evidence).","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-11-03T11:53:15.372688+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG3 as Green List (high evidence)","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-11-03T11:53:15.361589+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg3 has been classified as Green List (High Evidence).","entity_name":"ALG3","entity_type":"gene"},{"created":"2022-11-03T10:54:07.291714+11:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.151","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: OPDM4 were set to 35148830","entity_name":"OPDM4","entity_type":"str"},{"created":"2022-11-03T10:00:56.001618+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.434","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEBPE were changed from Specific granule deficiency, MIM# 245480 to Specific granule deficiency, MIM# 245480; Immunodeficiency 108 with autoinflammation, MIM# 260570","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-11-03T10:00:37.587947+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.433","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEBPE were set to 10359588; 11313242; 31256937; 29651288","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-11-03T10:00:11.642429+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.432","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEBPE: Added comment: Additional family with auto inflammatory phenotype published in 31201888, extensive functional data.; Changed publications: 10359588, 11313242, 31256937, 29651288, 31201888","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-11-03T09:57:46.431445+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.432","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEBPE: Changed phenotypes: Specific granule deficiency, MIM# 245480, Immunodeficiency 108 with autoinflammation, MIM# 260570","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-11-03T09:57:20.399891+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEBPE were changed from Autoinflammatory syndrome MONDO:0019751, CEBPE-related to Immunodeficiency 108 with autoinflammation , MIM#\t260570","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-11-03T09:56:28.965683+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEBPE: Changed phenotypes: Immunodeficiency 108 with autoinflammation, MIM#  260570","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-11-03T09:12:16.057713+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.793","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSTB as ready","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-11-03T09:12:16.047722+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.793","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cstb has been classified as Red List (Low Evidence).","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-11-03T09:12:11.864311+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.793","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-11-03T09:11:55.630688+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.792","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSTB as Red List (low evidence)","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-11-03T09:11:55.621253+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.792","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cstb has been classified as Red List (Low Evidence).","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-11-03T09:11:41.684468+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.791","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSTB","entity_type":"gene"},{"created":"2022-11-03T09:05:51.317560+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.791","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTC1 as ready","entity_name":"CTC1","entity_type":"gene"},{"created":"2022-11-03T09:05:51.309258+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.791","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctc1 has been classified as Red List (Low Evidence).","entity_name":"CTC1","entity_type":"gene"},{"created":"2022-11-03T09:05:41.803848+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.791","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTC1 were changed from Coats plus syndrome to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199","entity_name":"CTC1","entity_type":"gene"},{"created":"2022-11-03T09:05:29.430590+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.790","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTC1 as Red List (low evidence)","entity_name":"CTC1","entity_type":"gene"},{"created":"2022-11-03T09:05:29.420262+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.790","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctc1 has been classified as Red List (Low Evidence).","entity_name":"CTC1","entity_type":"gene"},{"created":"2022-11-03T09:05:16.275219+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTC1","entity_type":"gene"},{"created":"2022-11-03T08:50:31.561560+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTPS1 as ready","entity_name":"CTPS1","entity_type":"gene"},{"created":"2022-11-03T08:50:31.549712+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctps1 has been classified as Green List (High Evidence).","entity_name":"CTPS1","entity_type":"gene"},{"created":"2022-11-03T08:50:25.579236+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CTPS1.","entity_name":"CTPS1","entity_type":"gene"},{"created":"2022-11-03T08:50:07.399941+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 24, MIM# 615897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTPS1","entity_type":"gene"},{"created":"2022-11-03T08:46:31.168012+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTSK as ready","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-11-03T08:46:31.157864+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsk has been classified as Red List (Low Evidence).","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-11-03T08:46:27.076961+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTSK were changed from Pycnodysostosis to Pycnodysostosis - MIM#265800","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-11-03T08:46:08.307210+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.788","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTSK as Red List (low evidence)","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-11-03T08:46:08.293786+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsk has been classified as Red List (Low Evidence).","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-11-03T08:45:51.245450+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTSK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis - MIM#265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-11-03T08:16:39.969864+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.787","user_name":"John Christodoulou","item_type":"entity","text":"changed review comment from: treatable with chenodeoxycholic acid and pravastatin; GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1409/#ctx.Summary\r\n\r\nBest effect if started early (PMID: 7964884); to: Onset of disease can be in infancy childhood, with a case made for newborn screening/genetic testing because of effective treatments being available - PMID: 33630770\r\n\r\ntreatable with chenodeoxycholic acid and pravastatin; GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1409/#ctx.Summary\r\n\r\nBest effect if started early (PMID: 7964884)","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-11-03T08:14:07.415516+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.787","user_name":"John Christodoulou","item_type":"entity","text":"changed review comment from: is on the current VCGS newborn screening panel; to: is on the current VCGS newborn screening panel by virtue of phenylalanine being the primary first tier metabolite that is analysed.\r\n\r\nHyperphenylalaninaemia when present in the newborn is transient.  There doesn’t appear to be cognitive impairment if untreated, but some individuals develop diabetes and/or mild hypomagnesaemia later in adolescence.  There does not appear to be any evidence that any treatments in infancy would have an effect on these two late effects.  See: PMID: 32456656\r\n\r\nSo, I think we can take this one off the list.","entity_name":"PCBD1","entity_type":"gene"},{"created":"2022-11-03T07:57:57.019482+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUL7 as ready","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-11-03T07:57:57.004866+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul7 has been classified as Red List (Low Evidence).","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-11-03T07:57:53.692322+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CUL7 were changed from 3-M syndrome to 3-M syndrome 1, MIM# 273750","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-11-03T07:57:41.834521+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.786","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CUL7 as Red List (low evidence)","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-11-03T07:57:41.810413+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.786","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul7 has been classified as Red List (Low Evidence).","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-11-03T07:57:29.784882+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.785","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CUL7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 1, MIM# 273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-11-03T07:56:04.669685+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.432","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CXCR4.","entity_name":"CXCR4","entity_type":"gene"},{"created":"2022-11-03T07:55:52.710112+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.785","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CXCR4 as ready","entity_name":"CXCR4","entity_type":"gene"},{"created":"2022-11-03T07:55:52.702064+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.785","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cxcr4 has been classified as Green List (High Evidence).","entity_name":"CXCR4","entity_type":"gene"}]}