{"count":220806,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1980","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1978","results":[{"created":"2020-01-16T20:55:47.072866+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFAP2A were changed from  to Branchiooculofacial syndrome, MIM# 113620","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2020-01-16T20:54:59.840479+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2020-01-16T20:54:01.739741+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2020-01-16T20:50:05.495803+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome","entity_name":"CTU2","entity_type":"gene"},{"created":"2020-01-16T20:49:45.180227+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTU2 as ready","entity_name":"CTU2","entity_type":"gene"},{"created":"2020-01-16T20:49:45.167939+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctu2 has been classified as Green List (High Evidence).","entity_name":"CTU2","entity_type":"gene"},{"created":"2020-01-16T20:49:17.720338+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTU2 were changed from  to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome","entity_name":"CTU2","entity_type":"gene"},{"created":"2020-01-16T20:48:29.570895+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTU2 were set to ","entity_name":"CTU2","entity_type":"gene"},{"created":"2020-01-16T20:47:41.562741+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTU2","entity_type":"gene"},{"created":"2020-01-16T20:45:40.360115+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF14 as ready","entity_name":"KIF14","entity_type":"gene"},{"created":"2020-01-16T20:45:40.352497+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif14 has been classified as Green List (High Evidence).","entity_name":"KIF14","entity_type":"gene"},{"created":"2020-01-16T20:08:04.718986+11:00","panel_name":"Haematuria","panel_id":39,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFHR5 were set to 30844074; 30197990; 24067434; 21566112; 20800271; 27490940; 24334459","entity_name":"CFHR5","entity_type":"gene"},{"created":"2020-01-16T20:07:16.920261+11:00","panel_name":"Haematuria","panel_id":39,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CFHR5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CFHR5","entity_type":"gene"},{"created":"2020-01-16T20:06:49.577522+11:00","panel_name":"Haematuria","panel_id":39,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFHR5 as ready","entity_name":"CFHR5","entity_type":"gene"},{"created":"2020-01-16T20:06:48.926438+11:00","panel_name":"Haematuria","panel_id":39,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfhr5 has been classified as Red List (Low Evidence).","entity_name":"CFHR5","entity_type":"gene"},{"created":"2020-01-16T20:06:29.243298+11:00","panel_name":"Haematuria","panel_id":39,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFHR5 were set to ","entity_name":"CFHR5","entity_type":"gene"},{"created":"2020-01-16T20:05:41.870254+11:00","panel_name":"Haematuria","panel_id":39,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CFHR5","entity_type":"gene"},{"created":"2020-01-16T20:04:45.727123+11:00","panel_name":"Haematuria","panel_id":39,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CFHR5.","entity_name":"CFHR5","entity_type":"gene"},{"created":"2020-01-16T20:04:33.586968+11:00","panel_name":"Haematuria","panel_id":39,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CFHR5: Added comment: Review provided by Danny Gale (UCL):\r\n\r\n4 independent mutations described in >30 families (most with one mutation that is endemic in people of Cypriot ancestry) causing haematuria and C3 glomerulopathy. Pathogenic mutations result in duplications of exons 2 and 3 of CFHR5, or a CFHR5-CFHR2 hybrid elongated gene to be produced. Other mutations (eg missense or truncating mutations) have NOT been robustly linked with disease and are probably not pathogenic: the disease is caused by a gain-of-function mechanism.; Changed rating: GREEN; Changed publications: 30844074, 30197990, 24067434, 21566112, 20800271, 27490940, 24334459; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CFHR5","entity_type":"gene"},{"created":"2020-01-16T20:02:28.054536+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.813","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RIC1 as ready","entity_name":"RIC1","entity_type":"gene"},{"created":"2020-01-16T20:02:28.047655+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.813","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ric1 has been classified as Amber List (Moderate Evidence).","entity_name":"RIC1","entity_type":"gene"},{"created":"2020-01-16T20:02:14.468151+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.813","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RIC1 as Amber List (moderate evidence)","entity_name":"RIC1","entity_type":"gene"},{"created":"2020-01-16T20:02:14.461344+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.813","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ric1 has been classified as Amber List (Moderate Evidence).","entity_name":"RIC1","entity_type":"gene"},{"created":"2020-01-16T20:01:51.373281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.812","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RIC1 was added\ngene: RIC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIC1 were set to 31932796\nPhenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD\nReview for gene: RIC1 was set to AMBER\nAdded comment: Zebrafish model and consanguineous families but homozygous-by-descent. \nSources: Literature","entity_name":"RIC1","entity_type":"gene"},{"created":"2020-01-16T19:58:21.868646+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1601","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RIC1 as ready","entity_name":"RIC1","entity_type":"gene"},{"created":"2020-01-16T19:58:21.861393+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1601","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ric1 has been classified as Amber List (Moderate Evidence).","entity_name":"RIC1","entity_type":"gene"},{"created":"2020-01-16T19:58:08.766127+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1601","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RIC1 as Amber List (moderate evidence)","entity_name":"RIC1","entity_type":"gene"},{"created":"2020-01-16T19:58:08.754827+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1601","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ric1 has been classified as Amber List (Moderate Evidence).","entity_name":"RIC1","entity_type":"gene"},{"created":"2020-01-16T19:57:09.783242+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1600","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RIC1 was added\ngene: RIC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIC1 were set to 31932796\nPhenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD\nReview for gene: RIC1 was set to AMBER\nAdded comment: Zebrafish model and consanguineous families but homozygous-by-descent. \nSources: Literature","entity_name":"RIC1","entity_type":"gene"},{"created":"2020-01-16T19:49:14.385709+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCD as ready","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-01-16T19:49:14.379099+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbcd has been classified as Green List (High Evidence).","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-01-16T19:49:11.000217+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBCD as Green List (high evidence)","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-01-16T19:49:10.993381+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbcd has been classified as Green List (High Evidence).","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-01-16T19:43:05.233434+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDH12 as ready","entity_name":"PCDH12","entity_type":"gene"},{"created":"2020-01-16T19:43:05.226297+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh12 has been classified as Green List (High Evidence).","entity_name":"PCDH12","entity_type":"gene"},{"created":"2020-01-16T18:30:28.415938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.811","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BICC1 as ready","entity_name":"BICC1","entity_type":"gene"},{"created":"2020-01-16T18:30:28.407022+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.811","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bicc1 has been classified as Red List (Low Evidence).","entity_name":"BICC1","entity_type":"gene"},{"created":"2020-01-16T18:29:48.258450+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.811","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BICC1 were changed from  to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331","entity_name":"BICC1","entity_type":"gene"},{"created":"2020-01-16T18:29:22.591967+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.810","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BICC1 were set to ","entity_name":"BICC1","entity_type":"gene"},{"created":"2020-01-16T18:27:53.514760+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.809","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BICC1 as Red List (low evidence)","entity_name":"BICC1","entity_type":"gene"},{"created":"2020-01-16T18:27:53.508069+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.809","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bicc1 has been classified as Red List (Low Evidence).","entity_name":"BICC1","entity_type":"gene"},{"created":"2020-01-16T18:23:03.147311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.808","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BNC2 as ready","entity_name":"BNC2","entity_type":"gene"},{"created":"2020-01-16T18:23:03.139153+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.808","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bnc2 has been classified as Green List (High Evidence).","entity_name":"BNC2","entity_type":"gene"},{"created":"2020-01-16T18:22:52.165322+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.808","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BNC2 as Green List (high evidence)","entity_name":"BNC2","entity_type":"gene"},{"created":"2020-01-16T18:22:52.158195+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.808","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bnc2 has been classified as Green List (High Evidence).","entity_name":"BNC2","entity_type":"gene"},{"created":"2020-01-16T18:22:33.741307+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.807","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BNC2 was added\ngene: BNC2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BNC2 were set to 31656805; 31051115\nPhenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612\nReview for gene: BNC2 was set to GREEN\ngene: BNC2 was marked as current diagnostic\nAdded comment: At least four unrelated families reported. \nSources: Expert list","entity_name":"BNC2","entity_type":"gene"},{"created":"2020-01-16T18:00:00.865176+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.806","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SIX2 as ready","entity_name":"SIX2","entity_type":"gene"},{"created":"2020-01-16T18:00:00.862107+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.806","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Single family reported.","entity_name":"SIX2","entity_type":"gene"},{"created":"2020-01-16T18:00:00.831188+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.806","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: six2 has been classified as Red List (Low Evidence).","entity_name":"SIX2","entity_type":"gene"},{"created":"2020-01-16T17:59:46.655737+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.806","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SIX2 were changed from  to CAKUT","entity_name":"SIX2","entity_type":"gene"},{"created":"2020-01-16T17:58:18.208563+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.805","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SIX2 were set to ","entity_name":"SIX2","entity_type":"gene"},{"created":"2020-01-16T17:57:56.961281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.804","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SIX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SIX2","entity_type":"gene"},{"created":"2020-01-16T17:57:32.313446+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.803","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SIX2 as Red List (low evidence)","entity_name":"SIX2","entity_type":"gene"},{"created":"2020-01-16T17:57:32.306501+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.803","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: six2 has been classified as Red List (Low Evidence).","entity_name":"SIX2","entity_type":"gene"},{"created":"2020-01-16T17:15:15.018883+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PCYT2 was added\ngene: PCYT2 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT2 were set to 31637422\nPhenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy\nReview for gene: PCYT2 was set to RED\nAdded comment: Ataxia is not a prominent feature of the condition. \nSources: Expert list","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-01-16T17:06:54.821988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.802","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRGAP1 as ready","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2020-01-16T17:06:54.818880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.802","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Two families reported.","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2020-01-16T17:06:54.789434+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.802","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srgap1 has been classified as Amber List (Moderate Evidence).","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2020-01-16T17:06:46.601102+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.802","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SRGAP1 were set to ","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2020-01-16T17:06:30.872835+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.801","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SRGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2020-01-16T17:05:57.957082+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.800","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRGAP1 were changed from  to CAKUT","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2020-01-16T17:05:43.628105+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.799","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRGAP1 as Amber List (moderate evidence)","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2020-01-16T17:05:43.621062+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.799","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srgap1 has been classified as Amber List (Moderate Evidence).","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2020-01-16T17:04:18.476699+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMP4 as ready","entity_name":"BMP4","entity_type":"gene"},{"created":"2020-01-16T17:04:18.469401+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmp4 has been classified as Green List (High Evidence).","entity_name":"BMP4","entity_type":"gene"},{"created":"2020-01-16T17:04:07.092301+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BMP4 were changed from  to CAKUT","entity_name":"BMP4","entity_type":"gene"},{"created":"2020-01-16T17:03:46.775973+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MKKS as Amber List (moderate evidence)","entity_name":"MKKS","entity_type":"gene"},{"created":"2020-01-16T17:03:46.767663+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mkks has been classified as Amber List (Moderate Evidence).","entity_name":"MKKS","entity_type":"gene"},{"created":"2020-01-16T17:03:34.927819+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MKKS as ready","entity_name":"MKKS","entity_type":"gene"},{"created":"2020-01-16T17:03:34.276372+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mkks has been classified as Red List (Low Evidence).","entity_name":"MKKS","entity_type":"gene"},{"created":"2020-01-16T17:03:21.715736+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BMP4 were set to ","entity_name":"BMP4","entity_type":"gene"},{"created":"2020-01-16T17:03:11.575972+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MKKS was added\ngene: MKKS was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MKKS were set to 15637713\nPhenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, 605231\nReview for gene: MKKS was set to AMBER\nAdded comment: Ataxia is not reported as a prominent feature of the phenotype. However, ataxia has been reported in at least 1 case with BBS6. There were four BBS6 cases reported in the publication, and 18/21 BBS cases had ataxia, therefore it is unknown if all 4 cases had ataxia. \nSources: Expert list","entity_name":"MKKS","entity_type":"gene"},{"created":"2020-01-16T17:02:36.239294+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMP4","entity_type":"gene"},{"created":"2020-01-16T17:01:21.279863+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DACT1 as ready","entity_name":"DACT1","entity_type":"gene"},{"created":"2020-01-16T17:01:21.276649+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Changed to Red after review against GEL gene-disease assessment.","entity_name":"DACT1","entity_type":"gene"},{"created":"2020-01-16T17:01:21.258149+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dact1 has been classified as Red List (Low Evidence).","entity_name":"DACT1","entity_type":"gene"},{"created":"2020-01-16T17:01:11.594626+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHCR7 were set to 3812577; 10069707; 23059950; 9678700","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-16T17:00:26.652654+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome; OMIM #270400 to Smith-Lemli-Opitz syndrome; OMIM #270400","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-16T16:59:41.752845+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome; OMIM #270400 to Smith-Lemli-Opitz syndrome; OMIM #270400","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-16T16:59:36.341535+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHCR7 as ready","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-16T16:59:36.333564+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Green List (High Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-16T16:58:54.650277+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHCR7 were changed from  to Smith-Lemli-Opitz syndrome; OMIM #270400","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-16T16:58:10.387711+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHCR7 were set to ","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-16T16:57:23.614897+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-01-16T16:56:38.057610+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF10 were changed from LADD syndrome; OMIM #149730 to LADD syndrome; OMIM #149730","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-01-16T16:56:18.368642+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF10 as ready","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-01-16T16:56:18.360892+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf10 has been classified as Red List (Low Evidence).","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-01-16T16:55:27.783645+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF10 were changed from  to LADD syndrome; OMIM #149730","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-01-16T16:54:42.347935+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-01-16T16:53:08.028522+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXC2 were changed from Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400 to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400","entity_name":"FOXC2","entity_type":"gene"},{"created":"2020-01-16T16:52:21.361373+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXC2 were set to 15523639","entity_name":"FOXC2","entity_type":"gene"},{"created":"2020-01-16T16:51:45.074107+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXC2 as ready","entity_name":"FOXC2","entity_type":"gene"},{"created":"2020-01-16T16:51:44.235920+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxc2 has been classified as Red List (Low Evidence).","entity_name":"FOXC2","entity_type":"gene"},{"created":"2020-01-16T16:51:35.953959+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXC2 were set to ","entity_name":"FOXC2","entity_type":"gene"},{"created":"2020-01-16T16:50:50.600951+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXC2","entity_type":"gene"},{"created":"2020-01-16T16:50:06.327277+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXC2 were changed from  to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400","entity_name":"FOXC2","entity_type":"gene"},{"created":"2020-01-16T16:49:21.292148+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXC2","entity_type":"gene"},{"created":"2020-01-16T16:47:24.405958+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SALL4 were changed from SALL4- related disorders to SALL4- related disorders","entity_name":"SALL4","entity_type":"gene"},{"created":"2020-01-16T16:47:01.661015+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SALL4 as ready","entity_name":"SALL4","entity_type":"gene"},{"created":"2020-01-16T16:47:00.933529+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sall4 has been classified as Green List (High Evidence).","entity_name":"SALL4","entity_type":"gene"}]}