{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=405","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=403","results":[{"created":"2024-08-20T11:44:09.992157+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.179","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TNNC1 as Green List (high evidence)","entity_name":"TNNC1","entity_type":"gene"},{"created":"2024-08-20T11:44:09.986813+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.179","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Classified as Definitive by ClinGen Hereditary Cardiovascular Disease GCEP - 13/09/2023","entity_name":"TNNC1","entity_type":"gene"},{"created":"2024-08-20T11:44:09.937502+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.179","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tnnc1 has been classified as Green List (High Evidence).","entity_name":"TNNC1","entity_type":"gene"},{"created":"2024-08-20T11:27:24.294331+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.213","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MPDZ as ready","entity_name":"MPDZ","entity_type":"gene"},{"created":"2024-08-20T11:27:24.274676+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.213","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mpdz has been classified as Amber List (Moderate Evidence).","entity_name":"MPDZ","entity_type":"gene"},{"created":"2024-08-20T11:27:19.814493+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.213","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MPDZ as Amber List (moderate evidence)","entity_name":"MPDZ","entity_type":"gene"},{"created":"2024-08-20T11:27:19.798920+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.213","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mpdz has been classified as Amber List (Moderate Evidence).","entity_name":"MPDZ","entity_type":"gene"},{"created":"2024-08-20T11:27:09.492704+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.212","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MPDZ was added\ngene: MPDZ was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDZ were set to 36594712; 22159006; 21862650\nPhenotypes for gene: MPDZ were set to hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219\nReview for gene: MPDZ was set to AMBER\ngene: MPDZ was marked as current diagnostic\nAdded comment: 2 reported siblings with syndromic maculopathy and 1 unpublished case with syndromic macular dystrophy (RMH). Multiple animal models with retinal degeneration consistent with RP/LCA. \nSources: Literature","entity_name":"MPDZ","entity_type":"gene"},{"created":"2024-08-20T10:29:59.811313+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPARG as Green List (high evidence)","entity_name":"PPARG","entity_type":"gene"},{"created":"2024-08-20T10:29:59.806176+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Diabetes can be a feature of lipodystrophy which is an established gene-disease association for PPARG","entity_name":"PPARG","entity_type":"gene"},{"created":"2024-08-20T10:29:59.761319+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pparg has been classified as Green List (High Evidence).","entity_name":"PPARG","entity_type":"gene"},{"created":"2024-08-19T19:26:25.925804+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP152 as ready","entity_name":"CEP152","entity_type":"gene"},{"created":"2024-08-19T19:26:25.907736+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep152 has been classified as Green List (High Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2024-08-19T19:26:22.102389+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP152 were changed from Seckel syndrome 5, 613823 (3) to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443","entity_name":"CEP152","entity_type":"gene"},{"created":"2024-08-19T19:26:11.162914+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.186","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP152 were set to ","entity_name":"CEP152","entity_type":"gene"},{"created":"2024-08-19T19:24:52.706505+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.185","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C1QC as ready","entity_name":"C1QC","entity_type":"gene"},{"created":"2024-08-19T19:24:52.685786+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.185","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1qc has been classified as Green List (High Evidence).","entity_name":"C1QC","entity_type":"gene"},{"created":"2024-08-19T19:24:49.750504+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.185","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C1QC were changed from C1q deficiency, 613652 (3) to C1q deficiency, MIM# 613652","entity_name":"C1QC","entity_type":"gene"},{"created":"2024-08-19T19:24:34.774780+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.184","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C1QC were set to ","entity_name":"C1QC","entity_type":"gene"},{"created":"2024-08-19T19:24:22.107950+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.183","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C1QC","entity_type":"gene"},{"created":"2024-08-19T19:22:47.957418+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.183","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP41 as ready","entity_name":"CEP41","entity_type":"gene"},{"created":"2024-08-19T19:22:47.941189+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep41 has been classified as Green List (High Evidence).","entity_name":"CEP41","entity_type":"gene"},{"created":"2024-08-19T19:21:14.566788+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.183","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP41 were changed from Joubert syndrome 15, 614464 (3) to Joubert syndrome 15, MIM# 614464","entity_name":"CEP41","entity_type":"gene"},{"created":"2024-08-19T19:21:04.456562+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP41 were set to ","entity_name":"CEP41","entity_type":"gene"},{"created":"2024-08-19T19:20:49.132159+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.181","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP41","entity_type":"gene"},{"created":"2024-08-19T19:19:52.097353+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNA1 as ready","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2024-08-19T19:19:52.086111+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna1 has been classified as Green List (High Evidence).","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2024-08-19T19:19:48.493048+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNA1 were changed from Multiple pterygium syndrome, lethal type, 253290 (3) to Multiple pterygium syndrome, lethal type, MIM#253290; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2024-08-19T19:19:17.299517+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.180","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNA1 were set to ","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2024-08-19T19:18:50.747121+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ETFA as ready","entity_name":"ETFA","entity_type":"gene"},{"created":"2024-08-19T19:18:50.732854+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: etfa has been classified as Green List (High Evidence).","entity_name":"ETFA","entity_type":"gene"},{"created":"2024-08-19T19:18:46.196455+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.179","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ETFA were set to ","entity_name":"ETFA","entity_type":"gene"},{"created":"2024-08-19T19:18:16.118913+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCB as ready","entity_name":"FANCB","entity_type":"gene"},{"created":"2024-08-19T19:18:16.100902+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancb has been classified as Green List (High Evidence).","entity_name":"FANCB","entity_type":"gene"},{"created":"2024-08-19T19:17:52.983522+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CERS3 as ready","entity_name":"CERS3","entity_type":"gene"},{"created":"2024-08-19T19:17:52.971132+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cers3 has been classified as Green List (High Evidence).","entity_name":"CERS3","entity_type":"gene"},{"created":"2024-08-19T19:17:49.883872+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.178","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 (3) to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; MONDO:0014010","entity_name":"CERS3","entity_type":"gene"},{"created":"2024-08-19T19:17:36.798826+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.177","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CERS3 were set to ","entity_name":"CERS3","entity_type":"gene"},{"created":"2024-08-19T19:17:02.804034+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FUCA1 as ready","entity_name":"FUCA1","entity_type":"gene"},{"created":"2024-08-19T19:17:02.785618+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fuca1 has been classified as Green List (High Evidence).","entity_name":"FUCA1","entity_type":"gene"},{"created":"2024-08-19T19:16:59.712734+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FUCA1 were changed from Fucosidosis, 230000 (3) to Fucosidosis, MIM# 230000","entity_name":"FUCA1","entity_type":"gene"},{"created":"2024-08-19T19:16:25.915764+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: G6PC3 as ready","entity_name":"G6PC3","entity_type":"gene"},{"created":"2024-08-19T19:16:25.886723+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: g6pc3 has been classified as Green List (High Evidence).","entity_name":"G6PC3","entity_type":"gene"},{"created":"2024-08-19T19:16:17.752047+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: G6PC3 were changed from Dursun syndrome, 612541 (3) to Dursun syndrome, MIM# 612541; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541","entity_name":"G6PC3","entity_type":"gene"},{"created":"2024-08-19T19:16:00.356339+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.174","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dursun syndrome, MIM# 612541, Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"G6PC3","entity_type":"gene"},{"created":"2024-08-19T19:15:05.859775+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALT as ready","entity_name":"GALT","entity_type":"gene"},{"created":"2024-08-19T19:15:05.848771+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galt has been classified as Green List (High Evidence).","entity_name":"GALT","entity_type":"gene"},{"created":"2024-08-19T19:15:02.340929+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.174","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALT were changed from Galactosemia, 230400 (3) to Galactosemia MIM# 230400","entity_name":"GALT","entity_type":"gene"},{"created":"2024-08-19T19:14:24.700794+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFTR as ready","entity_name":"CFTR","entity_type":"gene"},{"created":"2024-08-19T19:14:24.684412+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cftr has been classified as Green List (High Evidence).","entity_name":"CFTR","entity_type":"gene"},{"created":"2024-08-19T19:14:16.317501+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.173","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CFTR were changed from Cystic fibrosis, 219700 (3) to Cystic fibrosis, MIM#219700; MONDO:0009061","entity_name":"CFTR","entity_type":"gene"},{"created":"2024-08-19T19:14:05.205626+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.172","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFTR were set to ","entity_name":"CFTR","entity_type":"gene"},{"created":"2024-08-19T19:11:56.381025+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCC8 as ready","entity_name":"ABCC8","entity_type":"gene"},{"created":"2024-08-19T19:11:56.364651+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc8 has been classified as Green List (High Evidence).","entity_name":"ABCC8","entity_type":"gene"},{"created":"2024-08-19T19:09:41.929715+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.171","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) to Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450","entity_name":"ABCC8","entity_type":"gene"},{"created":"2024-08-19T19:09:24.413735+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.170","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCC8 were set to ","entity_name":"ABCC8","entity_type":"gene"},{"created":"2024-08-19T19:05:16.020111+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISPD as ready","entity_name":"ISPD","entity_type":"gene"},{"created":"2024-08-19T19:05:16.005432+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ispd has been classified as Green List (High Evidence).","entity_name":"ISPD","entity_type":"gene"},{"created":"2024-08-19T19:05:11.224882+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ISPD were set to ","entity_name":"ISPD","entity_type":"gene"},{"created":"2024-08-19T19:05:01.495048+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ISPD.","entity_name":"ISPD","entity_type":"gene"},{"created":"2024-08-19T13:36:42.483072+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CCBE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCBE1","entity_type":"gene"},{"created":"2024-08-19T13:36:04.287983+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CCBE1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCBE1","entity_type":"gene"},{"created":"2024-08-19T11:04:00.692861+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCAP31 as ready","entity_name":"BCAP31","entity_type":"gene"},{"created":"2024-08-19T11:04:00.687513+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Promote to Green at V2.","entity_name":"BCAP31","entity_type":"gene"},{"created":"2024-08-19T11:04:00.624195+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcap31 has been classified as Red List (Low Evidence).","entity_name":"BCAP31","entity_type":"gene"},{"created":"2024-08-19T11:03:24.318350+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: BCAP31.","entity_name":"BCAP31","entity_type":"gene"},{"created":"2024-08-19T10:58:45.726361+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1960","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ELMOD3 as Red List (low evidence)","entity_name":"ELMOD3","entity_type":"gene"},{"created":"2024-08-19T10:58:45.715040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1960","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elmod3 has been classified as Red List (Low Evidence).","entity_name":"ELMOD3","entity_type":"gene"},{"created":"2024-08-19T10:58:25.794022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1959","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ELMOD3: Added comment: Discussed at GenCC: limited.; Changed rating: RED","entity_name":"ELMOD3","entity_type":"gene"},{"created":"2024-08-19T10:58:04.419576+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.196","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ELMOD3 as Red List (low evidence)","entity_name":"ELMOD3","entity_type":"gene"},{"created":"2024-08-19T10:58:04.401946+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elmod3 has been classified as Red List (Low Evidence).","entity_name":"ELMOD3","entity_type":"gene"},{"created":"2024-08-19T10:57:30.762207+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.195","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ELMOD3: Added comment: Discussed at GenCC: LIMITED.; Changed rating: RED","entity_name":"ELMOD3","entity_type":"gene"},{"created":"2024-08-18T13:05:50.572196+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: GTPBP2.","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2024-08-18T13:05:42.623403+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26675814, 28454995, 29449720, 30790272, 38852771, 38118446; Phenotypes: Jaberi-Elahi syndrome, MIM#617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2024-08-18T13:02:16.009748+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: YIF1B as Green List (high evidence)","entity_name":"YIF1B","entity_type":"gene"},{"created":"2024-08-18T13:02:15.997298+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yif1b has been classified as Green List (High Evidence).","entity_name":"YIF1B","entity_type":"gene"},{"created":"2024-08-18T13:01:26.380638+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YIF1B: Changed rating: GREEN","entity_name":"YIF1B","entity_type":"gene"},{"created":"2024-08-18T13:01:19.345584+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YIF1B: Added comment: Multiple additional individuals now reported, including others with seizures. DEFINITIVE by ClinGen.; Changed publications: 36948290, 33103737","entity_name":"YIF1B","entity_type":"gene"},{"created":"2024-08-18T12:59:58.775425+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: YIF1B.","entity_name":"YIF1B","entity_type":"gene"},{"created":"2024-08-18T12:59:47.730347+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YIF1B: Added comment: DEFINITIVE gene-disease association by ClinGen. Over 20 individuals now reported in the literature.; Changed publications: 33103737, 32006098, 36948290, 34373908","entity_name":"YIF1B","entity_type":"gene"},{"created":"2024-08-18T12:57:28.404864+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"YIF1B","entity_type":"gene"},{"created":"2024-08-18T12:28:19.676059+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1959","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CFAP57 were changed from  to Spermatogenic failure 95, MIM# 620917; Van der Woude Syndrome; Primary ciliary dyskinesia","entity_name":"CFAP57","entity_type":"gene"},{"created":"2024-08-18T12:27:56.392862+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFAP57 were set to ","entity_name":"CFAP57","entity_type":"gene"},{"created":"2024-08-18T12:27:34.486804+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1957","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP57 as Green List (high evidence)","entity_name":"CFAP57","entity_type":"gene"},{"created":"2024-08-18T12:27:34.476872+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1957","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap57 has been classified as Green List (High Evidence).","entity_name":"CFAP57","entity_type":"gene"},{"created":"2024-08-18T12:27:15.917814+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1956","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CFAP57: Added comment: PMID 36752199: 5 individuals from three families reported with biallelic LoF variants (two homozygous variants) and spermatogenic failure. Mouse model recapitulated the phenotype.; Changed rating: GREEN; Changed publications: 21574244, 32764743, 36752199; Changed phenotypes: Spermatogenic failure 95, MIM# 620917, Van der Woude Syndrome, Primary ciliary dyskinesia","entity_name":"CFAP57","entity_type":"gene"},{"created":"2024-08-18T12:23:30.888903+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FICD were changed from Hereditary motor neurone disease, FICD-related, MONDO:0024257 to Spastic paraplegia 92, autosomal recessive, MIM# 620911","entity_name":"FICD","entity_type":"gene"},{"created":"2024-08-18T12:22:23.754307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FICD were changed from Hereditary motor neurone disease, FICD-related, MONDO:0024257 to Spastic paraplegia 92, autosomal recessive, MIM#\t620911","entity_name":"FICD","entity_type":"gene"},{"created":"2024-08-16T16:24:38.106514+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31199594, 19092437, 38153325, 26708955, 32172939; Phenotypes: Cystic fibrosis, MIM#219700, MONDO:0009061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CFTR","entity_type":"gene"},{"created":"2024-08-16T16:16:51.362706+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALT","entity_type":"gene"},{"created":"2024-08-16T16:12:28.448751+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"G6PC3","entity_type":"gene"},{"created":"2024-08-16T16:09:12.554954+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosidosis, MIM# 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FUCA1","entity_type":"gene"},{"created":"2024-08-16T16:07:41.796781+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701, 37128664; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023, MONDO:0014010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CERS3","entity_type":"gene"},{"created":"2024-08-16T15:59:11.260648+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group B, MIM#300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FANCB","entity_type":"gene"},{"created":"2024-08-16T15:52:06.315424+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.168","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ETFA","entity_type":"gene"},{"created":"2024-08-16T08:24:23.246583+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.58","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PSKH1 as Green List (high evidence)","entity_name":"PSKH1","entity_type":"gene"},{"created":"2024-08-16T08:24:23.227680+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.58","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pskh1 has been classified as Green List (High Evidence).","entity_name":"PSKH1","entity_type":"gene"},{"created":"2024-08-16T08:24:11.253610+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.25","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PSKH1 as Green List (high evidence)","entity_name":"PSKH1","entity_type":"gene"},{"created":"2024-08-16T08:24:11.226853+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.25","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pskh1 has been classified as Green List (High Evidence).","entity_name":"PSKH1","entity_type":"gene"},{"created":"2024-08-16T08:24:02.973512+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.242","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PSKH1 as Green List (high evidence)","entity_name":"PSKH1","entity_type":"gene"}]}