{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1348","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1346","results":[{"created":"2021-04-19T22:10:36.025626+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ERCC4: Changed publications: 23623386, 8797827, 23623389, 17183314, 29105242; Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, XFE progeroid syndrome, MIM# 610965","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:08:22.342548+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T20:40:55.173304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7224","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC3 as ready","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:40:55.164008+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7224","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc3 has been classified as Green List (High Evidence).","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:40:47.567886+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7224","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC3 were changed from  to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:40:30.101509+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7223","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC3 were set to ","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:40:10.673196+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7222","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:39:48.800124+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7221","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Trichothiodystrophy 2, photosensitive, MIM# 616390, Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:16:56.571342+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC3 as ready","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:16:56.561801+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc3 has been classified as Green List (High Evidence).","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:16:53.131020+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC3 were changed from  to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:16:25.156213+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC3 were set to ","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:16:03.083276+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T20:15:28.445630+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Trichothiodystrophy 2, photosensitive, MIM# 616390, Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC3","entity_type":"gene"},{"created":"2021-04-19T16:28:12.366695+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7221","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)","entity_name":"DAAM2","entity_type":"gene"},{"created":"2021-04-19T16:27:48.799340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7220","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DAAM2: Changed phenotypes: Nephrotic syndrome, type 24, MIM# 619263, Steroid-resistant nephrotic syndrome (SRNS)","entity_name":"DAAM2","entity_type":"gene"},{"created":"2021-04-19T16:27:30.254008+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)","entity_name":"DAAM2","entity_type":"gene"},{"created":"2021-04-19T16:26:58.913629+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DAAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 24, MIM# 619263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DAAM2","entity_type":"gene"},{"created":"2021-04-19T16:26:20.859944+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7220","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SDHA were changed from  to Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642; Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259; Paragangliomas 5 , MIM#614165","entity_name":"SDHA","entity_type":"gene"},{"created":"2021-04-19T16:26:03.995223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7219","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDHA as ready","entity_name":"SDHA","entity_type":"gene"},{"created":"2021-04-19T16:26:03.985675+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7219","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdha has been classified as Green List (High Evidence).","entity_name":"SDHA","entity_type":"gene"},{"created":"2021-04-19T16:23:16.516420+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7219","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SDHA were set to ","entity_name":"SDHA","entity_type":"gene"},{"created":"2021-04-19T16:22:59.095895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7218","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SDHA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SDHA","entity_type":"gene"},{"created":"2021-04-19T16:22:41.896153+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7217","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10976639, 27683074, 7550341, 22972948, 20551992, 21752896; Phenotypes: Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011, Cardiomyopathy, dilated, 1GG, MIM# 613642, Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259, Paragangliomas 5 , MIM#614165; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SDHA","entity_type":"gene"},{"created":"2021-04-19T16:12:05.149539+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7217","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC19A1 as ready","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2021-04-19T16:12:05.125766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc19a1 has been classified as Red List (Low Evidence).","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2021-04-19T16:11:56.359352+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7217","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC19A1 was added\ngene: SLC19A1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC19A1 were set to 32276275\nPhenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM# 601775\nReview for gene: SLC19A1 was set to RED\nAdded comment: Single individual reported with in-frame deletion, some functional data. \nSources: Expert list","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2021-04-19T16:10:29.977511+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC19A1 as ready","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2021-04-19T16:10:29.963137+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc19a1 has been classified as Red List (Low Evidence).","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2021-04-19T16:10:23.634810+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC19A1 was added\ngene: SLC19A1 was added to Rare anaemia_GEL. Sources: Expert list\nMode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC19A1 were set to 32276275\nPhenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM#\t601775\nReview for gene: SLC19A1 was set to RED\nAdded comment: Single individual reported with in-frame deletion, some functional data. \nSources: Expert list","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2021-04-18T18:03:39.135627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC2 as ready","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T18:03:39.125317+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc2 has been classified as Green List (High Evidence).","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T18:03:31.387204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7216","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC2 were changed from  to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T18:03:12.901649+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7215","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC2 were set to ","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T18:02:47.479371+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7214","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T18:02:33.371289+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC2 as ready","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T18:02:33.357021+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc2 has been classified as Green List (High Evidence).","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T18:02:29.639749+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7213","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702, 9758621, 11443545, 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553, Trichothiodystrophy 1, photosensitive, MIM# 601675, MONDO:0011125, Xeroderma pigmentosum, group D, MIM# 278730, MONDO:0010212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T18:02:13.763107+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC2 were changed from  to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T18:00:26.247285+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC2 were set to ","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T17:58:33.670690+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T17:58:10.533934+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702, 9758621, 11443545, 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, Trichothiodystrophy 1, photosensitive, MIM# 601675, Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-04-18T17:54:49.815805+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3690","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC1 as ready","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:54:49.805747+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc1 has been classified as Green List (High Evidence).","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:54:45.795516+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3690","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC1 were changed from  to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:54:02.465976+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3689","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC1 were set to ","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:53:29.567413+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3688","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:53:03.068700+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3687","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 32557569, 26085086, 33315086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758, MONDO:0012554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:52:27.101888+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ERCC1: Changed publications: 17273966, 23623389, 32557569, 26085086, 33315086","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:52:11.302557+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC1 as ready","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:52:11.287787+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc1 has been classified as Green List (High Evidence).","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:51:58.336541+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC1 were changed from  to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:51:32.089330+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4, MIM# 610758 to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:50:44.375236+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7212","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families reported, variable severity reported from a Cockayne phenotype with congenital onset and early mortality, through to adolescent presentation with short stature, photosensitivity and progressive liver and renal dysfunction.; to: More than three unrelated families reported, variable severity reported from a Cockayne phenotype with congenital onset and early mortality, through to adolescent presentation with short stature, photosensitivity and progressive liver and renal dysfunction.","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:50:32.406120+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7212","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ERCC1: Changed publications: 17273966, 23623389, 32557569, 26085086, 33315086","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:50:30.862100+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC1 were set to 17273966; 23623389; 32557569; 26085086","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:49:23.856686+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC1 were set to ","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:48:55.427814+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:48:30.399526+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 32557569, 26085086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC1","entity_type":"gene"},{"created":"2021-04-18T17:44:36.341537+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1060","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD3 as ready","entity_name":"CHD3","entity_type":"gene"},{"created":"2021-04-18T17:44:36.336791+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1060","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Patient identified through our service where seizures were the presenting feature.","entity_name":"CHD3","entity_type":"gene"},{"created":"2021-04-18T17:44:36.303001+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1060","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd3 has been classified as Green List (High Evidence).","entity_name":"CHD3","entity_type":"gene"},{"created":"2021-04-18T17:44:07.595483+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1060","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD3 as Green List (high evidence)","entity_name":"CHD3","entity_type":"gene"},{"created":"2021-04-18T17:44:07.586439+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1060","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd3 has been classified as Green List (High Evidence).","entity_name":"CHD3","entity_type":"gene"},{"created":"2021-04-18T17:10:19.419110+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:09:53.977534+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7211","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA8 were set to 32385911","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:09:27.194873+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7210","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA8 as Amber List (moderate evidence)","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:09:27.184770+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa8 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:09:08.774197+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7209","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: NDUFA8: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:08:51.772661+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7209","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFA8: Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:08:06.242234+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.599","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:07:36.134262+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.598","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA8 were set to 32385911","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:07:04.160900+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.597","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA8 as Amber List (moderate evidence)","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:07:04.151438+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.597","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa8 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:06:33.211482+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.596","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFA8: Added comment: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.; Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures, lactic acidosis","entity_name":"NDUFA8","entity_type":"gene"},{"created":"2021-04-18T17:03:09.423956+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278","entity_name":"YIPF5","entity_type":"gene"},{"created":"2021-04-18T17:02:59.521883+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278","entity_name":"YIPF5","entity_type":"gene"},{"created":"2021-04-18T17:02:45.607748+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1059","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278","entity_name":"YIPF5","entity_type":"gene"},{"created":"2021-04-18T17:02:11.272336+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278","entity_name":"YIPF5","entity_type":"gene"},{"created":"2021-04-18T17:00:07.966987+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278","entity_name":"YIPF5","entity_type":"gene"},{"created":"2021-04-18T16:59:38.519148+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278","entity_name":"YIPF5","entity_type":"gene"},{"created":"2021-04-18T15:30:17.939933+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1058","user_name":"Naomi Baker","item_type":"entity","text":"gene: CHD3 was added\ngene: CHD3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CHD3 were set to PMID: 32483341\nPhenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome MIM#618205\nReview for gene: CHD3 was set to GREEN\nAdded comment: A review of the phenotypic findings in two cohorts of Snijders Blok-Campeau syndrome patients, indicated that 16% (9/55) of patients had seizures. \nSources: Literature","entity_name":"CHD3","entity_type":"gene"},{"created":"2021-04-18T14:00:29.813696+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278","entity_name":"YIPF5","entity_type":"gene"},{"created":"2021-04-18T14:00:09.650760+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7208","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278","entity_name":"YIPF5","entity_type":"gene"},{"created":"2021-04-17T19:36:32.957899+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAM20C as Green List (high evidence)","entity_name":"FAM20C","entity_type":"gene"},{"created":"2021-04-17T19:36:32.946222+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20c has been classified as Green List (High Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2021-04-17T19:36:09.841741+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly. \nSources: Expert list; to: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly. Aware of unpublished cases.\r\nSources: Expert list","entity_name":"FAM20C","entity_type":"gene"},{"created":"2021-04-17T19:35:57.008212+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FAM20C: Changed rating: GREEN; Changed phenotypes: Raine syndrome, MIM# 259775","entity_name":"FAM20C","entity_type":"gene"},{"created":"2021-04-17T17:58:50.023764+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA12 were set to 21617257","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-17T17:58:24.989710+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.297","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA12 as Green List (high evidence)","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-17T17:58:24.980203+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa12 has been classified as Green List (High Evidence).","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-17T17:57:55.656515+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFA12: Added comment: Additional 7 individuals from 4 families reported: several had a progressive course, one specifically described as having complete regression.; Changed rating: GREEN; Changed publications: 21617257, 33715266","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-17T17:56:07.849716+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA12 were set to 21617257","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-17T17:55:34.005175+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFA12: Added comment: Additional 7 patients from 4 families reported in PMID 33715266: no corpus callosum abnormalities.; Changed publications: 21617257, 33715266","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-04-17T17:34:07.850200+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7208","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RORC were set to 26160376","entity_name":"RORC","entity_type":"gene"},{"created":"2021-04-17T17:33:41.187493+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7207","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RORC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RORC","entity_type":"gene"},{"created":"2021-04-17T17:27:59.591726+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MCM10: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCM10","entity_type":"gene"},{"created":"2021-04-16T14:31:34.127669+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.70","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: RPL10 as ready","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-16T14:31:34.112684+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.70","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rpl10 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-16T14:31:22.783639+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.70","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: RPL10 as Amber List (moderate evidence)","entity_name":"RPL10","entity_type":"gene"}]}