{"count":220966,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=709","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=707","results":[{"created":"2022-10-24T18:28:58.786403+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Uncertain whether it would present antenatally predominantly with the skeletal findings.; to: Uncertain whether it would present antenatally predominantly with the skeletal findings. Appropriately rated Green on Fetal Anomalies.","entity_name":"DHCR24","entity_type":"gene"},{"created":"2022-10-24T18:28:30.483960+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Desmosterolosis - MIM#602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR24","entity_type":"gene"},{"created":"2022-10-24T15:58:30.056678+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.615","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP152 as ready","entity_name":"CEP152","entity_type":"gene"},{"created":"2022-10-24T15:58:30.043504+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.615","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep152 has been classified as Red List (Low Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2022-10-24T15:58:26.774946+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.615","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP152 were changed from Seckel syndrome to Microcephaly 9, primary, autosomal recessive, MIM# 614852; Seckel syndrome 5, MIM# 613823","entity_name":"CEP152","entity_type":"gene"},{"created":"2022-10-24T15:58:13.168224+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP152 as Red List (low evidence)","entity_name":"CEP152","entity_type":"gene"},{"created":"2022-10-24T15:58:13.159648+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep152 has been classified as Red List (Low Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2022-10-24T15:58:02.111503+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.613","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, Seckel syndrome 5, MIM# 613823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP152","entity_type":"gene"},{"created":"2022-10-24T15:54:52.448475+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.613","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDT1 as ready","entity_name":"CDT1","entity_type":"gene"},{"created":"2022-10-24T15:54:52.432312+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.613","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdt1 has been classified as Red List (Low Evidence).","entity_name":"CDT1","entity_type":"gene"},{"created":"2022-10-24T15:54:05.011103+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.613","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDT1 as Red List (low evidence)","entity_name":"CDT1","entity_type":"gene"},{"created":"2022-10-24T15:54:04.996952+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.613","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdt1 has been classified as Red List (Low Evidence).","entity_name":"CDT1","entity_type":"gene"},{"created":"2022-10-24T15:53:53.500851+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDT1","entity_type":"gene"},{"created":"2022-10-24T15:51:54.623626+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDSN as ready","entity_name":"CDSN","entity_type":"gene"},{"created":"2022-10-24T15:51:54.609511+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdsn has been classified as Red List (Low Evidence).","entity_name":"CDSN","entity_type":"gene"},{"created":"2022-10-24T15:51:32.112809+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDSN were changed from Hypotrichosis to Peeling skin syndrome 1, MIM#270300","entity_name":"CDSN","entity_type":"gene"},{"created":"2022-10-24T15:51:17.087939+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.611","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDSN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDSN","entity_type":"gene"},{"created":"2022-10-24T15:51:07.123114+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.610","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDSN as Red List (low evidence)","entity_name":"CDSN","entity_type":"gene"},{"created":"2022-10-24T15:51:07.114045+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.610","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdsn has been classified as Red List (Low Evidence).","entity_name":"CDSN","entity_type":"gene"},{"created":"2022-10-24T15:50:55.180839+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.609","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDSN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 1 MIM#270300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDSN","entity_type":"gene"},{"created":"2022-10-24T15:49:00.246394+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.609","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKL5 as ready","entity_name":"CDKL5","entity_type":"gene"},{"created":"2022-10-24T15:49:00.235956+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.609","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl5 has been classified as Red List (Low Evidence).","entity_name":"CDKL5","entity_type":"gene"},{"created":"2022-10-24T15:48:56.930870+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.609","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDKL5 were changed from Epileptic encephalopathy, early infantile, 2 to Epileptic encephalopathy, early infantile, 2, MIM 300672","entity_name":"CDKL5","entity_type":"gene"},{"created":"2022-10-24T15:48:35.344372+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.608","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDKL5 as Red List (low evidence)","entity_name":"CDKL5","entity_type":"gene"},{"created":"2022-10-24T15:48:35.335404+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.608","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl5 has been classified as Red List (Low Evidence).","entity_name":"CDKL5","entity_type":"gene"},{"created":"2022-10-24T15:48:24.518950+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.607","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKL5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CDKL5","entity_type":"gene"},{"created":"2022-10-24T15:43:05.384603+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.607","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CDH23: Changed phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386), Usher syndrome, type 1D/F digenic (MIM #601067)","entity_name":"CDH23","entity_type":"gene"},{"created":"2022-10-24T15:42:50.728128+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.607","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH23 as ready","entity_name":"CDH23","entity_type":"gene"},{"created":"2022-10-24T15:42:50.720069+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.607","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh23 has been classified as Green List (High Evidence).","entity_name":"CDH23","entity_type":"gene"},{"created":"2022-10-24T15:42:46.963926+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.607","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH23 were changed from Deafness, autosomal recessive; Usher syndrome, type 1D to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067)","entity_name":"CDH23","entity_type":"gene"},{"created":"2022-10-24T15:42:30.429044+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CDH23.","entity_name":"CDH23","entity_type":"gene"},{"created":"2022-10-24T15:42:20.937805+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDH23","entity_type":"gene"},{"created":"2022-10-24T15:39:59.142717+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC14A as ready","entity_name":"CDC14A","entity_type":"gene"},{"created":"2022-10-24T15:39:59.133666+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc14a has been classified as Green List (High Evidence).","entity_name":"CDC14A","entity_type":"gene"},{"created":"2022-10-24T15:39:50.321035+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDC14A","entity_type":"gene"},{"created":"2022-10-24T15:15:04.971087+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24027798; Phenotypes: Porphyria, congenital erythropoietic MIM#263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UROS","entity_type":"gene"},{"created":"2022-10-24T15:07:39.179266+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301442; Phenotypes: Usher syndrome type 1 MIM#276904; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"USH1C","entity_type":"gene"},{"created":"2022-10-24T15:02:11.654179+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301442; Phenotypes: Usher syndrome type 1  MIM#606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"USH1G","entity_type":"gene"},{"created":"2022-10-24T14:51:59.066461+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301515, PMID: 36041150 , PMID: 34331125; Phenotypes: Usher Syndrome Type II MIM#276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"USH2A","entity_type":"gene"},{"created":"2022-10-24T14:45:03.496915+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Lilian Downie","item_type":"entity","text":"edited their review of gene: VCAN: Changed rating: GREEN; Changed publications: PMID: 16043844, PMID: 20301747","entity_name":"VCAN","entity_type":"gene"},{"created":"2022-10-24T14:34:46.952195+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: VCAN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Wagner syndrome MIM#143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VCAN","entity_type":"gene"},{"created":"2022-10-24T11:56:24.986662+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease type 1, MIM#230800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA","entity_type":"gene"},{"created":"2022-10-24T11:51:24.636845+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.358","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2022-10-24T11:47:05.079124+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Alison Yeung","item_type":"entity","text":"changed review comment from: Well-established gene-disease association for congenital heart defects and neonatal diabetes\r\nOnset: infancy but variable expressivity and incomplete penetrance common for cardiac defects\r\nSeverity: variable defects. No syndromic features, no association with arrhythmias\r\nTreatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes\r\nOnset: infancy but variable expressivity and incomplete penetrance common for cardiac defects\r\nSeverity: variable defects. No syndromic features, no association with arrhythmias\r\nTreatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes","entity_name":"GATA4","entity_type":"gene"},{"created":"2022-10-24T11:40:36.527995+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Alison Yeung","item_type":"entity","text":"changed review comment from: Well-established gene-disease association\r\nOnset: infancy (congenital heart defects) but variable expressivity and incomplete penetrance common\r\nSeverity: variable defects. No syndromic features, no association with arrhythmias\r\nTreatment: Echocardiogram and surgical repair; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes\r\nOnset: infancy but variable expressivity and incomplete penetrance common for cardiac defects\r\nSeverity: variable defects. No syndromic features, no association with arrhythmias\r\nTreatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes","entity_name":"GATA4","entity_type":"gene"},{"created":"2022-10-24T11:27:37.910834+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Alison Yeung","item_type":"entity","text":"Tag for review tag was added to gene: GATA4.","entity_name":"GATA4","entity_type":"gene"},{"created":"2022-10-24T11:27:18.584187+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA4","entity_type":"gene"},{"created":"2022-10-24T11:16:29.826896+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Alison Yeung","item_type":"entity","text":"Tag review tag was added to gene: G6PD.","entity_name":"G6PD","entity_type":"gene"},{"created":"2022-10-24T08:53:07.932659+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.26","user_name":"Peter McNaughton","item_type":"entity","text":"gene: TBCE was added\ngene: TBCE was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCE were set to PMID: 36258138\nPhenotypes for gene: TBCE were set to Combined immune deficiency with syndromic features\nReview for gene: TBCE was set to GREEN\nAdded comment: Patients frequently display impaired mitogen responses, T cell-dependent antibody responses, and reduced frequencies of CD4 + and CD8 + effector memory of CD4 + and CD8 + TEMRA and naive B cells, with an increased proportion of CD21lowCD27- B-cell populations.\r\nThey suffer from varied bacterial infections in spite of amoxicillin prophylaxis and display opportunistic viral and fungal infections. \nSources: Literature","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-10-23T17:17:50.354616+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5004","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HNRNPH1 were changed from HNRNPH1 ‐related syndromic intellectual disability to Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083","entity_name":"HNRNPH1","entity_type":"gene"},{"created":"2022-10-23T17:17:19.470520+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5003","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HNRNPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNRNPH1","entity_type":"gene"},{"created":"2022-10-23T17:16:52.608561+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.421","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HNRNPH1 were changed from HNRNPH1‐related syndromic intellectual disability; early onset high myopia, MONDO:0001384 to Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083","entity_name":"HNRNPH1","entity_type":"gene"},{"created":"2022-10-23T17:16:24.119844+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.420","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HNRNPH1: Changed phenotypes: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083","entity_name":"HNRNPH1","entity_type":"gene"},{"created":"2022-10-23T17:15:23.647687+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDR2 as ready","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-23T17:15:23.637371+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddr2 has been classified as Red List (Low Evidence).","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-23T16:26:48.416749+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-23T16:26:36.761936+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.605","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-23T16:26:24.506558+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DDR2: Added comment: AR LoF variants cause a skeletal dysplasia of perinatal onset, whereas AD GoF variants cause a syndromic disorder.\r\n\r\nNo specific treatment for either.; Changed phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, Warburg-Cinotti syndrome, MIM# 618175","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-23T16:25:28.019914+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-23T16:24:38.187293+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDR2 as ready","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-23T16:24:38.179579+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddr2 has been classified as Green List (High Evidence).","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-23T16:24:34.877166+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDR2 were changed from  to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-23T16:24:04.108092+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDR2 were set to ","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-23T16:23:40.366664+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-10-21T21:38:54.537548+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.604","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: VCP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16247064, PMID: 21145000; Phenotypes: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VCP","entity_type":"gene"},{"created":"2022-10-21T21:33:18.431351+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.604","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32596195, PMID: 31926093, PMID: 32049653; Phenotypes: Rickets, vitamin D-resistant, type IIA MIM#277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VDR","entity_type":"gene"},{"created":"2022-10-21T21:26:03.342598+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.604","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: VHL: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301636, PMID: 33945366, PMID: 34613603; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VHL","entity_type":"gene"},{"created":"2022-10-21T18:48:11.259655+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH2 as ready","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:48:11.249189+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh2 has been classified as Amber List (Moderate Evidence).","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:48:06.915837+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH2 were changed from  to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:47:53.666882+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDH2 were set to ","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:47:45.473951+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:47:26.554074+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDH2 as Amber List (moderate evidence)","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:47:26.545746+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh2 has been classified as Amber List (Moderate Evidence).","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:47:17.293068+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.; to: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.\r\n\r\nSome presented in adolescence.","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:45:48.023921+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28280076; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:44:34.193735+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CHD2 from the panel","entity_name":null,"entity_type":null},{"created":"2022-10-21T18:42:26.157640+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH2 as ready","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:42:26.140302+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh2 has been classified as Amber List (Moderate Evidence).","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:42:21.838811+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDH2 as Amber List (moderate evidence)","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:42:21.830052+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh2 has been classified as Amber List (Moderate Evidence).","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:41:49.555893+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDH2 was added\ngene: CDH2 was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920\nReview for gene: CDH2 was set to AMBER\nAdded comment: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen. \nSources: Expert list","entity_name":"CDH2","entity_type":"gene"},{"created":"2022-10-21T18:36:33.780524+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.420","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRDM16 were set to 23768516; 29367541; 34915728; 31965688; 29367541","entity_name":"PRDM16","entity_type":"gene"},{"created":"2022-10-21T18:36:12.831736+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.419","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRDM16 as Green List (high evidence)","entity_name":"PRDM16","entity_type":"gene"},{"created":"2022-10-21T18:36:12.823001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.419","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prdm16 has been classified as Green List (High Evidence).","entity_name":"PRDM16","entity_type":"gene"},{"created":"2022-10-21T18:31:49.143931+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688.","entity_name":"PRDM16","entity_type":"gene"},{"created":"2022-10-21T18:31:14.574974+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRDM16 as Green List (high evidence)","entity_name":"PRDM16","entity_type":"gene"},{"created":"2022-10-21T18:31:14.565731+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prdm16 has been classified as Green List (High Evidence).","entity_name":"PRDM16","entity_type":"gene"},{"created":"2022-10-21T17:48:23.694589+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.72","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: 3rd individual reported with dissection of the descending aorta in adulthood. WES identified compound heterozygous LTBP3 frameshift variants predicted to undergo NMD (confirmed in trans through familial segregation studies), this individual also had spinal stenosis and dental anomalies. His offspring with heterozygous variants had no aortic or other anomalies.\r\n\r\nAssociation between heterozygous variants (both missense and NMD-predicted) and later-onset thoracic aortic dissection postulated - AMBER association.; to: 3rd individual reported with dissection of the descending aorta in adulthood. WES identified compound heterozygous LTBP3 frameshift variants predicted to undergo NMD (confirmed in trans through familial segregation studies), this individual also had spinal stenosis and dental anomalies. His offspring with heterozygous variants had no aortic or other anomalies.\r\n\r\nAssociation between heterozygous variants (both missense and NMD-predicted) and later-onset thoracic aortic dissection postulated - AMBER association.","entity_name":"LTBP3","entity_type":"gene"},{"created":"2022-10-21T17:48:13.337693+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.72","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34906192; Phenotypes: Dental anomalies and short stature - MIM#601216, thoracic aortic aneurysms; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LTBP3","entity_type":"gene"},{"created":"2022-10-21T16:37:39.812415+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.134","user_name":"Suliman Khan","item_type":"entity","text":"reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36253531; Phenotypes: pediatric dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-10-21T15:36:44.308533+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.418","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 29367541, 29447731, 30847666, 33082984, 32183154, 33500567, 34540771, 34350506, 34935411; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"PRDM16","entity_type":"gene"},{"created":"2022-10-21T15:32:45.350954+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.12","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 29367541, 29447731, 30847666, 33082984, 32183154, 33500567, 34540771, 34350506, 34935411; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"PRDM16","entity_type":"gene"},{"created":"2022-10-21T12:46:49.031630+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5003","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKT3 as ready","entity_name":"AKT3","entity_type":"gene"},{"created":"2022-10-21T12:46:49.022202+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5003","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt3 has been classified as Green List (High Evidence).","entity_name":"AKT3","entity_type":"gene"},{"created":"2022-10-21T12:46:43.369677+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5003","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKT3 were changed from  to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937","entity_name":"AKT3","entity_type":"gene"},{"created":"2022-10-21T12:46:13.652794+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5002","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKT3 were set to ","entity_name":"AKT3","entity_type":"gene"},{"created":"2022-10-21T12:45:34.998010+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5001","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT3","entity_type":"gene"},{"created":"2022-10-21T12:44:18.332581+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5000","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22729224, 22729223, 35665751, 34354878, 32446860, 31441589; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT3","entity_type":"gene"},{"created":"2022-10-21T10:59:14.101896+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD79B as ready","entity_name":"CD79B","entity_type":"gene"}]}