{"count":220771,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=744","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=742","results":[{"created":"2022-09-24T15:25:25.140581+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2022-09-24T15:22:58.393513+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BLNK.","entity_name":"BLNK","entity_type":"gene"},{"created":"2022-09-24T15:22:37.286270+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BLNK.","entity_name":"BLNK","entity_type":"gene"},{"created":"2022-09-24T15:22:26.131930+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BLNK.","entity_name":"BLNK","entity_type":"gene"},{"created":"2022-09-24T15:22:16.150920+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BLNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 10583958, 32194234, 25893637; Phenotypes: Agammaglobulinaemia 4, MIM# 613502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLNK","entity_type":"gene"},{"created":"2022-09-24T15:16:22.631799+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BIN1 as ready","entity_name":"BIN1","entity_type":"gene"},{"created":"2022-09-24T15:16:22.622315+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bin1 has been classified as Red List (Low Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2022-09-24T15:16:00.991036+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive to Centronuclear myopathy 2, MIM# 255200","entity_name":"BIN1","entity_type":"gene"},{"created":"2022-09-24T15:15:47.826395+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BIN1 as Red List (low evidence)","entity_name":"BIN1","entity_type":"gene"},{"created":"2022-09-24T15:15:47.811281+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bin1 has been classified as Red List (Low Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2022-09-24T15:15:36.275128+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BIN1","entity_type":"gene"},{"created":"2022-09-24T15:14:03.629431+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BICD2 as ready","entity_name":"BICD2","entity_type":"gene"},{"created":"2022-09-24T15:14:03.619685+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bicd2 has been classified as Red List (Low Evidence).","entity_name":"BICD2","entity_type":"gene"},{"created":"2022-09-24T15:13:59.759548+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BICD2 were changed from Congenital spinal muscular atrophy to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Neurodevelopmental disorder (MONDO#0700092), BICD2-related","entity_name":"BICD2","entity_type":"gene"},{"created":"2022-09-24T15:13:33.473817+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BICD2 were set to ","entity_name":"BICD2","entity_type":"gene"},{"created":"2022-09-24T15:13:22.976689+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BICD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"BICD2","entity_type":"gene"},{"created":"2022-09-24T15:13:13.394541+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BICD2 as Red List (low evidence)","entity_name":"BICD2","entity_type":"gene"},{"created":"2022-09-24T15:13:13.385494+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bicd2 has been classified as Red List (Low Evidence).","entity_name":"BICD2","entity_type":"gene"},{"created":"2022-09-24T15:13:01.199053+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393, 35896821; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, MONDO:0014121, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291, Neurodevelopmental disorder (MONDO#0700092), BICD2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"BICD2","entity_type":"gene"},{"created":"2022-09-24T15:09:54.473230+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V1B1 as ready","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2022-09-24T15:09:54.464204+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1b1 has been classified as Green List (High Evidence).","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2022-09-24T15:09:49.986963+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP6V1B1 were changed from Renal tubular acidosis & hearing loss, MIM#267300 to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2022-09-24T15:07:51.440754+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP8B1 as ready","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2022-09-24T15:07:51.431778+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp8b1 has been classified as Red List (Low Evidence).","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2022-09-24T15:07:47.570455+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1 to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2022-09-24T15:07:32.595294+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP8B1 as Red List (low evidence)","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2022-09-24T15:07:32.586305+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp8b1 has been classified as Red List (Low Evidence).","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2022-09-24T15:07:20.302215+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2022-09-24T08:04:41.013207+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Tag digenic tag was added to gene: TYMS.","entity_name":"TYMS","entity_type":"gene"},{"created":"2022-09-24T08:04:19.834648+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag digenic tag was added to gene: TYMS.","entity_name":"TYMS","entity_type":"gene"},{"created":"2022-09-24T07:59:18.894331+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TYMS were changed from Dyskeratosis congenita MONDO:0015780 to Dyskeratosis congenita, digenic, MIM#620040","entity_name":"TYMS","entity_type":"gene"},{"created":"2022-09-24T07:58:49.468352+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TYMS: Changed phenotypes: Dyskeratosis congenita, digenic, MIM#620040","entity_name":"TYMS","entity_type":"gene"},{"created":"2022-09-24T07:58:32.083748+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TYMS were changed from Dyskeratosis congenita MONDO:0015780 to Dyskeratosis congenita, digenic, MIM#620040","entity_name":"TYMS","entity_type":"gene"},{"created":"2022-09-24T07:57:55.355857+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TYMS: Changed phenotypes: Dyskeratosis congenita, digenic, MIM#620040","entity_name":"TYMS","entity_type":"gene"},{"created":"2022-09-23T18:53:52.266708+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nVariable age of symptom onset and severity.\r\n\r\nNo specific treatment available.; to: Well established gene-disease association.\r\n\r\nVariable age of symptom onset and severity.\r\n\r\nNo specific treatment available.\r\n\r\nHowever, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-09-23T18:53:08.826194+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACVRL1: Changed publications: 32894695","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-09-23T18:50:19.572244+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: ACVRL1.","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-09-23T18:50:01.691923+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACVRL1 as ready","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-09-23T18:50:01.673194+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvrl1 has been classified as Red List (Low Evidence).","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-09-23T18:49:52.991213+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACVRL1 as Red List (low evidence)","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-09-23T18:49:52.975282+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvrl1 has been classified as Red List (Low Evidence).","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-09-23T18:49:33.714168+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACVRL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-09-23T18:46:24.730455+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V0A4 as ready","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2022-09-23T18:46:24.712109+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v0a4 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2022-09-23T18:20:56.290810+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Tag clinical trial tag was added to gene: ACVR1.","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:20:35.721567+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACVR1 as ready","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:20:35.701408+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvr1 has been classified as Green List (High Evidence).","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:20:32.846518+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACVR1 were set to ","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:20:21.944328+10:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Tag clinical trial tag was added to gene: ACVR1.","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:19:59.599791+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACVR1 as ready","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:19:59.592358+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvr1 has been classified as Green List (High Evidence).","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:16:31.647694+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACVR1 were set to ","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:15:58.837211+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Tag clinical trial tag was added to gene: ACVR1.","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:15:48.255519+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.\r\n\r\nMultiple unrelated families reported. The R206H variant is recurrent.\r\n\r\nNote variants in this gene are also associated with congenital heart disease, PMID 29089047.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.\r\n\r\nMultiple unrelated families reported. The R206H variant is recurrent.\r\n\r\nClinical trial with palovarotene.\r\n\r\nNote variants in this gene are also associated with congenital heart disease, PMID 29089047.","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:14:51.059303+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Tag clinical trial tag was added to gene: ACVR1.","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:14:31.733545+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.\r\n\r\nMultiple unrelated families reported. The R206H variant is recurrent.\r\n\r\nNote variants in this gene are also associated with congenital heart disease, PMID 29089047.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.\r\n\r\nMultiple unrelated families reported. The R206H variant is recurrent.\r\n\r\nClinical trial with palovarotene\r\n\r\nNote variants in this gene are also associated with congenital heart disease, PMID 29089047.","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:13:42.971839+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACVR1 as ready","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:13:42.951074+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvr1 has been classified as Red List (Low Evidence).","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:12:44.559054+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva to Fibrodysplasia ossificans progressiva, MIM# 135100","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:12:31.144673+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACVR1 were set to ","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:12:17.076470+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACVR1 as Red List (low evidence)","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:12:17.066137+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvr1 has been classified as Red List (Low Evidence).","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:12:01.927197+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: ACVR1.\nTag clinical trial tag was added to gene: ACVR1.","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:11:41.430554+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: None; Publications: 16642017, 29089047, 35384641; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACVR1","entity_type":"gene"},{"created":"2022-09-23T18:04:44.670972+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACOX1 as ready","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-09-23T18:04:44.661323+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acox1 has been classified as Red List (Low Evidence).","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-09-23T18:04:33.114085+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-09-23T18:04:20.191132+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACOX1 were set to ","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-09-23T18:04:08.230632+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-09-23T18:03:57.298662+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACOX1 as Red List (low evidence)","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-09-23T18:03:57.288011+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acox1 has been classified as Red List (Low Evidence).","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-09-23T18:03:43.221581+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACOX1: Rating: RED; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470, Mitchell syndrome, MIM# 618960; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-09-23T17:59:06.756905+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDOB as ready","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:59:06.746091+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldob has been classified as Green List (High Evidence).","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:59:00.408373+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDOB were changed from  to Fructose intolerance, hereditary, MIM# 229600","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:58:28.459932+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:57:53.270434+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:57:19.565828+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ALDOB.","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:54:55.549539+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ALDOB.","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:54:06.121593+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ALDOB.","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:53:43.845364+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:52:57.266015+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDOB as ready","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:52:57.252825+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldob has been classified as Green List (High Evidence).","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:52:53.098628+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDOB were changed from Fructose intolerance, MIM#229600 to Fructose intolerance, hereditary, MIM# 229600","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:52:22.957804+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ALDOB.","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:52:10.091458+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALDOB: Changed phenotypes: Fructose intolerance, hereditary, MIM# 229600","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:51:27.678587+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDOB","entity_type":"gene"},{"created":"2022-09-23T17:41:59.885327+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP2B2 as ready","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-09-23T17:41:59.876722+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp2b2 has been classified as Red List (Low Evidence).","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-09-23T17:41:56.211017+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2B2 were changed from Deafness, childhood onset to Deafness, autosomal dominant 82, MIM# 619804","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-09-23T17:41:44.407071+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP2B2 as Red List (low evidence)","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-09-23T17:41:44.396587+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp2b2 has been classified as Red List (Low Evidence).","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-09-23T17:41:34.576970+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: ATP2B2.","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-09-23T17:41:24.827097+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP2B2: Rating: RED; Mode of pathogenicity: None; Publications: 30535804; Phenotypes: Deafness, autosomal dominant 82, MIM# 619804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2022-09-23T17:38:32.165233+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP1A2 as ready","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2022-09-23T17:38:32.151811+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a2 has been classified as Red List (Low Evidence).","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2022-09-23T17:38:28.459761+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP1A2 were changed from Hemiplegic migraine to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2022-09-23T17:38:18.142427+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP1A2 were set to ","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2022-09-23T17:38:07.741684+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2022-09-23T17:37:57.186100+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP1A2 as Red List (low evidence)","entity_name":"ATP1A2","entity_type":"gene"}]}