{"count":221273,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=689","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=687","results":[{"created":"2022-11-23T10:41:08.320194+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1024","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgd1 has been classified as Red List (Low Evidence).","entity_name":"FGD1","entity_type":"gene"},{"created":"2022-11-23T10:40:55.864434+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1023","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aarskog-Scott syndrome, MIM # 305400, Mental retardation, X-linked syndromic 16, MIM# 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FGD1","entity_type":"gene"},{"created":"2022-11-23T10:38:42.299332+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1023","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGD4 as ready","entity_name":"FGD4","entity_type":"gene"},{"created":"2022-11-23T10:38:42.284665+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1023","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgd4 has been classified as Red List (Low Evidence).","entity_name":"FGD4","entity_type":"gene"},{"created":"2022-11-23T10:38:38.799209+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1023","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGD4 were changed from Charcot-Marie-Tooth disease to Charcot Marie Tooth disease, type 4H, MIM#609311","entity_name":"FGD4","entity_type":"gene"},{"created":"2022-11-23T10:38:25.671077+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1022","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGD4 as Red List (low evidence)","entity_name":"FGD4","entity_type":"gene"},{"created":"2022-11-23T10:38:25.658144+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1022","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgd4 has been classified as Red List (Low Evidence).","entity_name":"FGD4","entity_type":"gene"},{"created":"2022-11-23T10:38:08.966420+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1021","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 4H, MIM#609311; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FGD4","entity_type":"gene"},{"created":"2022-11-23T07:57:35.097813+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1021","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF3 as ready","entity_name":"FGF3","entity_type":"gene"},{"created":"2022-11-23T07:57:35.081048+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1021","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf3 has been classified as Green List (High Evidence).","entity_name":"FGF3","entity_type":"gene"},{"created":"2022-11-23T07:57:31.420020+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1021","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF3 were changed from Deafness, congenital with inner ear agenesis, microtia, and microdontia to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706","entity_name":"FGF3","entity_type":"gene"},{"created":"2022-11-23T07:57:15.308636+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1020","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FGF3","entity_type":"gene"},{"created":"2022-11-23T07:55:17.571419+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1020","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN2 as ready","entity_name":"FBN2","entity_type":"gene"},{"created":"2022-11-23T07:55:17.560352+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1020","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn2 has been classified as Red List (Low Evidence).","entity_name":"FBN2","entity_type":"gene"},{"created":"2022-11-23T07:55:11.325585+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1020","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBN2 as Red List (low evidence)","entity_name":"FBN2","entity_type":"gene"},{"created":"2022-11-23T07:55:11.313262+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1020","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn2 has been classified as Red List (Low Evidence).","entity_name":"FBN2","entity_type":"gene"},{"created":"2022-11-23T07:54:58.721463+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1019","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital, MIM# 121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FBN2","entity_type":"gene"},{"created":"2022-11-23T07:40:45.454497+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1019","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC34A3 as ready","entity_name":"SLC34A3","entity_type":"gene"},{"created":"2022-11-23T07:40:45.442158+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1019","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc34a3 has been classified as Green List (High Evidence).","entity_name":"SLC34A3","entity_type":"gene"},{"created":"2022-11-23T07:40:41.033618+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1019","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC34A3 were changed from Hypophosphatemic rickets with hypercalciuria to Hypophosphatemic rickets with hypercalciuria, MIM#241530","entity_name":"SLC34A3","entity_type":"gene"},{"created":"2022-11-23T07:40:27.678322+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1018","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SLC34A3.","entity_name":"SLC34A3","entity_type":"gene"},{"created":"2022-11-23T07:40:17.917488+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1018","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets with hypercalciuria, MIM#241530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC34A3","entity_type":"gene"},{"created":"2022-11-23T07:35:56.601471+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.151","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Inherited renal tubular disease, MONDO:0015962, KCNJ16-related; Renal tubulopathy; deafness","entity_name":"KCNJ16","entity_type":"gene"},{"created":"2022-11-23T07:35:22.510783+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.150","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KCNJ16: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, KCNJ16-related, Renal tubulopathy, deafness","entity_name":"KCNJ16","entity_type":"gene"},{"created":"2022-11-23T07:33:55.257137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.481","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Inherited renal tubular disease, MONDO:0015962, KCNJ16-related; Renal tubulopathy; deafness","entity_name":"KCNJ16","entity_type":"gene"},{"created":"2022-11-23T07:33:26.018911+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.480","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KCNJ16: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, KCNJ16-related, Renal tubulopathy, deafness","entity_name":"KCNJ16","entity_type":"gene"},{"created":"2022-11-23T01:53:34.661885+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1802","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 34617111; Phenotypes: developmental and epileptic encephalopathy, MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GPHN","entity_type":"gene"},{"created":"2022-11-23T01:51:58.446590+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.187","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"changed review comment from: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies with mouse model.\r\n\r\nOut of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co0-segregation with phenotype in this family. \r\n\r\nIn addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans. \r\n\r\nThis gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype. \nSources: Literature; to: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies from mouse model.\r\n\r\nOut of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co0-segregation with phenotype in this family. \r\n\r\nIn addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans. \r\n\r\nThis gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype. \r\nSources: Literature","entity_name":"MYCN","entity_type":"gene"},{"created":"2022-11-22T19:05:34.896457+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1018","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGFR1 as ready","entity_name":"FGFR1","entity_type":"gene"},{"created":"2022-11-22T19:05:34.880232+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1018","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr1 has been classified as Red List (Low Evidence).","entity_name":"FGFR1","entity_type":"gene"},{"created":"2022-11-22T19:05:30.202391+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1018","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGFR1 were changed from Kallmann syndrome to Encephalocraniocutaneous lipomatosis, somatic mosaic 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440","entity_name":"FGFR1","entity_type":"gene"},{"created":"2022-11-22T19:05:17.945263+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1017","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGFR1 as Red List (low evidence)","entity_name":"FGFR1","entity_type":"gene"},{"created":"2022-11-22T19:05:17.929574+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1017","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr1 has been classified as Red List (Low Evidence).","entity_name":"FGFR1","entity_type":"gene"},{"created":"2022-11-22T19:05:06.704935+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1016","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalocraniocutaneous lipomatosis, somatic mosaic 613001, Hartsfield syndrome 615465, Hypogonadotropic hypogonadism 2 with or without anosmia 147950, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250, Pfeiffer syndrome 101600, Trigonocephaly 1 190440; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR1","entity_type":"gene"},{"created":"2022-11-22T19:03:12.835232+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1016","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGFR2 as ready","entity_name":"FGFR2","entity_type":"gene"},{"created":"2022-11-22T19:03:12.823625+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1016","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr2 has been classified as Red List (Low Evidence).","entity_name":"FGFR2","entity_type":"gene"},{"created":"2022-11-22T19:03:08.353254+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1016","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGFR2 were changed from Jackson-Weiss syndrome; Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata syndrome to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410; Apert syndrome, MIM# 101200; Beare-Stevenson cutis gyrata syndrome, MIM# 123790; Bent bone dysplasia syndrome, MIM# 614592; Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600; Crouzon syndrome , MIM#123500; Jackson-Weiss syndrome,MIM# 123150; LADD syndrome, MIM# 149730; Pfeiffer syndrome,MIM# 101600; Saethre-Chotzen syndrome 101400","entity_name":"FGFR2","entity_type":"gene"},{"created":"2022-11-22T19:02:54.133865+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1015","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGFR2 as Red List (low evidence)","entity_name":"FGFR2","entity_type":"gene"},{"created":"2022-11-22T19:02:54.122215+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1015","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr2 has been classified as Red List (Low Evidence).","entity_name":"FGFR2","entity_type":"gene"},{"created":"2022-11-22T19:02:42.398635+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1014","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410, Apert syndrome, MIM# 101200, Beare-Stevenson cutis gyrata syndrome, MIM# 123790, Bent bone dysplasia syndrome, MIM# 614592, Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600, Crouzon syndrome , MIM#123500, Jackson-Weiss syndrome,MIM# 123150, LADD syndrome, MIM# 149730, Pfeiffer syndrome,MIM# 101600, Saethre-Chotzen syndrome 101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR2","entity_type":"gene"},{"created":"2022-11-22T18:57:18.655378+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1014","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGFR3 as ready","entity_name":"FGFR3","entity_type":"gene"},{"created":"2022-11-22T18:57:18.642450+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1014","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr3 has been classified as Green List (High Evidence).","entity_name":"FGFR3","entity_type":"gene"},{"created":"2022-11-22T18:57:14.493564+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1014","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGFR3 were changed from Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome to Achondroplasia MONDO:0007037","entity_name":"FGFR3","entity_type":"gene"},{"created":"2022-11-22T18:57:01.024537+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1013","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FGFR3 were set to ","entity_name":"FGFR3","entity_type":"gene"},{"created":"2022-11-22T18:56:49.356596+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1012","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: FGFR3.\nTag treatable tag was added to gene: FGFR3.","entity_name":"FGFR3","entity_type":"gene"},{"created":"2022-11-22T18:56:36.028298+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1012","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34341520, 31269546; Phenotypes: Achondroplasia MONDO:0007037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR3","entity_type":"gene"},{"created":"2022-11-22T18:50:18.810867+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1012","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGG as ready","entity_name":"FGG","entity_type":"gene"},{"created":"2022-11-22T18:50:18.787337+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1012","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgg has been classified as Green List (High Evidence).","entity_name":"FGG","entity_type":"gene"},{"created":"2022-11-22T18:50:12.637944+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1012","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGG were changed from Afibrinogenaemia to Afibrinogenemia, congenital, MIM# 202400","entity_name":"FGG","entity_type":"gene"},{"created":"2022-11-22T18:49:59.228235+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1011","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FGG.","entity_name":"FGG","entity_type":"gene"},{"created":"2022-11-22T18:49:46.526538+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1011","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital, MIM# 202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FGG","entity_type":"gene"},{"created":"2022-11-22T18:45:38.827603+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1011","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKRP as ready","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-11-22T18:45:38.815998+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1011","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkrp has been classified as Red List (Low Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-11-22T18:45:35.313890+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1011","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKRP were changed from Muscle-eye-brain disease; Muscular dystrophy, limb girdle 2I to Muscular dystrophy-dystroglycanopathy MONDO:0018276","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-11-22T18:44:34.417530+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1010","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FKRP as Red List (low evidence)","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-11-22T18:44:34.390745+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1010","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkrp has been classified as Red List (Low Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-11-22T18:44:23.530469+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1009","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FKRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-11-22T18:42:45.659662+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1009","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKTN as ready","entity_name":"FKTN","entity_type":"gene"},{"created":"2022-11-22T18:42:45.648310+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1009","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fktn has been classified as Red List (Low Evidence).","entity_name":"FKTN","entity_type":"gene"},{"created":"2022-11-22T18:42:41.753943+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1009","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKTN were changed from Muscular dystrophy, Fukuyama; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies to Muscular dystrophy-dystroglycanopathy MONDO:0018276","entity_name":"FKTN","entity_type":"gene"},{"created":"2022-11-22T18:42:21.054040+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1008","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FKTN as Red List (low evidence)","entity_name":"FKTN","entity_type":"gene"},{"created":"2022-11-22T18:42:21.042545+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1008","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fktn has been classified as Red List (Low Evidence).","entity_name":"FKTN","entity_type":"gene"},{"created":"2022-11-22T18:42:08.866679+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKTN","entity_type":"gene"},{"created":"2022-11-22T18:40:46.819674+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nTypically manifests in adulthood, therefore predictive testing usually offered in adolescence with surveillance thereafter.\r\n\r\nFor review.; to: Well established gene-disease association.\r\n\r\nTypically manifests in adulthood, therefore predictive testing usually offered in adolescence with surveillance thereafter. Renal cancer age of onset ~50 years.\r\n\r\nFor review.","entity_name":"FLCN","entity_type":"gene"},{"created":"2022-11-22T18:40:20.296927+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLCN as ready","entity_name":"FLCN","entity_type":"gene"},{"created":"2022-11-22T18:40:20.284508+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flcn has been classified as Red List (Low Evidence).","entity_name":"FLCN","entity_type":"gene"},{"created":"2022-11-22T18:40:16.535751+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLCN were changed from Birt-Hogg-Dube syndrome to Birt-Hogg-Dube syndrome, MIM# 135150","entity_name":"FLCN","entity_type":"gene"},{"created":"2022-11-22T18:40:03.827419+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1006","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLCN as Red List (low evidence)","entity_name":"FLCN","entity_type":"gene"},{"created":"2022-11-22T18:40:03.811144+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flcn has been classified as Red List (Low Evidence).","entity_name":"FLCN","entity_type":"gene"},{"created":"2022-11-22T18:39:53.174818+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1005","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: FLCN.","entity_name":"FLCN","entity_type":"gene"},{"created":"2022-11-22T18:39:42.140460+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1005","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Birt-Hogg-Dube syndrome, MIM# 135150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FLCN","entity_type":"gene"},{"created":"2022-11-22T18:26:14.569723+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1005","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLNA as ready","entity_name":"FLNA","entity_type":"gene"},{"created":"2022-11-22T18:26:14.554056+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1005","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flna has been classified as Red List (Low Evidence).","entity_name":"FLNA","entity_type":"gene"},{"created":"2022-11-22T18:26:08.469606+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1005","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLNA were changed from Otopalatodigital spectrum disorder to FLNA-related disorders; Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Osteodysplasty Melnick Needles 309350; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type II 304120; Frontometaphyseal dysplasia 305620; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300","entity_name":"FLNA","entity_type":"gene"},{"created":"2022-11-22T18:25:53.299518+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1004","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLNA as Red List (low evidence)","entity_name":"FLNA","entity_type":"gene"},{"created":"2022-11-22T18:25:53.287371+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1004","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flna has been classified as Red List (Low Evidence).","entity_name":"FLNA","entity_type":"gene"},{"created":"2022-11-22T18:25:41.040640+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1003","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FLNA-related disorders, Frontometaphyseal dysplasia 305620, Otopalatodigital syndrome, type II -304120, Osteodysplasty Melnick Needles 309350, Melnick Needles syndrome 309350, Otopalatodigital syndrome, type II 304120, Frontometaphyseal dysplasia 305620, Terminal osseous dysplasia 300244, Otopalatodigital syndrome, type I -311300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"FLNA","entity_type":"gene"},{"created":"2022-11-22T17:58:32.223608+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2022-11-22T17:58:17.200003+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2022-11-22T17:57:06.458369+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TTR as ready","entity_name":"TTR","entity_type":"gene"},{"created":"2022-11-22T17:57:06.446255+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ttr has been classified as Green List (High Evidence).","entity_name":"TTR","entity_type":"gene"},{"created":"2022-11-22T17:57:03.414438+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TTR as Green List (high evidence)","entity_name":"TTR","entity_type":"gene"},{"created":"2022-11-22T17:57:03.401492+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ttr has been classified as Green List (High Evidence).","entity_name":"TTR","entity_type":"gene"},{"created":"2022-11-22T17:56:53.967495+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TTR was added\ngene: TTR was added to Cerebral amyloid angiopathy. Sources: Literature\nMode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTR were set to 35040071; 8579098; 31257920; 27466465; 28991667; 11422811\nPhenotypes for gene: TTR were set to cerebral amyloid angiopathy MONDO:0005620\nMode of pathogenicity for gene: TTR was set to Other\nReview for gene: TTR was set to GREEN\ngene: TTR was marked as current diagnostic\nAdded comment: Cerebral amyloid angiopathy has been reported in multiple cases with pathogenic TTR variants \nSources: Literature","entity_name":"TTR","entity_type":"gene"},{"created":"2022-11-22T17:43:44.833640+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PSEN2 as ready","entity_name":"PSEN2","entity_type":"gene"},{"created":"2022-11-22T17:43:44.821920+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psen2 has been classified as Amber List (Moderate Evidence).","entity_name":"PSEN2","entity_type":"gene"},{"created":"2022-11-22T17:43:41.076212+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PSEN2 as Amber List (moderate evidence)","entity_name":"PSEN2","entity_type":"gene"},{"created":"2022-11-22T17:43:41.062772+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psen2 has been classified as Amber List (Moderate Evidence).","entity_name":"PSEN2","entity_type":"gene"},{"created":"2022-11-22T17:43:30.836166+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSEN2 was added\ngene: PSEN2 was added to Cerebral amyloid angiopathy. Sources: Literature\nMode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN2 were set to 9450781; 26888304\nPhenotypes for gene: PSEN2 were set to cerebral amyloid angiopathy MONDO:0005620\nMode of pathogenicity for gene: PSEN2 was set to Other\nReview for gene: PSEN2 was set to AMBER\nAdded comment: Single PSEN2 variant (N141I) segregating with cerebral amyloid angiopathy in a single family (or possibly two families, not clear if the same family is referenced in both publications). \nSources: Literature","entity_name":"PSEN2","entity_type":"gene"},{"created":"2022-11-22T17:30:23.838383+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PSEN1 as ready","entity_name":"PSEN1","entity_type":"gene"},{"created":"2022-11-22T17:30:23.820960+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psen1 has been classified as Green List (High Evidence).","entity_name":"PSEN1","entity_type":"gene"},{"created":"2022-11-22T17:30:20.675228+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PSEN1 as Green List (high evidence)","entity_name":"PSEN1","entity_type":"gene"},{"created":"2022-11-22T17:30:20.660815+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psen1 has been classified as Green List (High Evidence).","entity_name":"PSEN1","entity_type":"gene"},{"created":"2022-11-22T17:30:12.495111+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSEN1 was added\ngene: PSEN1 was added to Cerebral amyloid angiopathy. Sources: Literature\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN1 were set to 11701593; 11079548; 34319632\nPhenotypes for gene: PSEN1 were set to cerebral amyloid angiopathy MONDO:0005620\nMode of pathogenicity for gene: PSEN1 was set to Other\nReview for gene: PSEN1 was set to GREEN\ngene: PSEN1 was marked as current diagnostic\nAdded comment: Greater than 10 families/probands with pathogenic PSEN1 variants leading to amyloid accumulation and cerebral amyloid angiopathy (CAA). \nSources: Literature","entity_name":"PSEN1","entity_type":"gene"},{"created":"2022-11-22T17:14:13.174983+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of pathogenicity for gene: PRNP was changed from None to Other","entity_name":"PRNP","entity_type":"gene"},{"created":"2022-11-22T17:14:06.948934+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PRNP as Green List (high evidence)","entity_name":"PRNP","entity_type":"gene"},{"created":"2022-11-22T17:14:06.933500+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: prnp has been classified as Green List (High Evidence).","entity_name":"PRNP","entity_type":"gene"},{"created":"2022-11-22T17:13:59.763427+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PRNP was added\ngene: PRNP was added to Cerebral amyloid angiopathy. Sources: Literature\nMode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRNP were set to 8570627; 19225789; 34128081; 19911184; 24224623\nPhenotypes for gene: PRNP were set to PrP systemic amyloidosis MONDO:0018339\nReview for gene: PRNP was set to GREEN\ngene: PRNP was marked as current diagnostic\nAdded comment: At least five probands/families reported with stopgain variants that lead to truncation of the C-terminus of the protein, which are associated with PrP amyloid in cerebral vessels \nSources: Literature","entity_name":"PRNP","entity_type":"gene"},{"created":"2022-11-22T15:59:50.421529+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ITM2B as ready","entity_name":"ITM2B","entity_type":"gene"},{"created":"2022-11-22T15:59:50.406961+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: itm2b has been classified as Green List (High Evidence).","entity_name":"ITM2B","entity_type":"gene"}]}