{"count":221385,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=576","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=574","results":[{"created":"2023-07-26T17:53:38.001293+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.219","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYHR1 as ready","entity_name":"CYHR1","entity_type":"gene"},{"created":"2023-07-26T17:53:37.992971+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.219","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyhr1 has been classified as Amber List (Moderate Evidence).","entity_name":"CYHR1","entity_type":"gene"},{"created":"2023-07-26T17:53:30.773698+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.219","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related","entity_name":"CYHR1","entity_type":"gene"},{"created":"2023-07-26T17:52:44.083525+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5297","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYHR1 as ready","entity_name":"CYHR1","entity_type":"gene"},{"created":"2023-07-26T17:52:44.074647+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyhr1 has been classified as Amber List (Moderate Evidence).","entity_name":"CYHR1","entity_type":"gene"},{"created":"2023-07-26T17:52:36.041783+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5297","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related","entity_name":"CYHR1","entity_type":"gene"},{"created":"2023-07-26T15:38:07.094845+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2176","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: ABCD4.","entity_name":"ABCD4","entity_type":"gene"},{"created":"2023-07-26T10:02:51.887288+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSPOAP1 as ready","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2023-07-26T10:02:51.879456+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tspoap1 has been classified as Green List (High Evidence).","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2023-07-26T10:02:46.676147+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSPOAP1 were changed from dystonia; intellectual disability; cerebellar atrophy to Dystonia 22, MIM# 620453","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2023-07-26T10:01:17.769095+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSPOAP1 as Green List (high evidence)","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2023-07-26T10:01:17.758071+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tspoap1 has been classified as Green List (High Evidence).","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2023-07-26T10:00:59.321542+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 22, MIM# 620453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2023-07-26T10:00:13.062009+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5296","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSPOAP1 were changed from Dystonia, intellectual disability and cerebellar atrophy to Dystonia 22, MIM# 620453","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2023-07-26T09:59:38.275793+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5295","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 22, MIM# 620453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2023-07-26T09:59:16.339644+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1029","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSPOAP1 were changed from Dystonia, intellectual disability and cerebellar atrophy to Dystonia 22, MIM# 620453","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2023-07-26T09:58:52.720858+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1028","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 22, MIM# 620453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2023-07-26T09:57:29.964709+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5295","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF4-related to Intellectual developmental disorder, autosomal dominant 73, MIM# 620450","entity_name":"TAF4","entity_type":"gene"},{"created":"2023-07-26T09:56:51.875196+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5294","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TAF4: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 73, MIM# 620450","entity_name":"TAF4","entity_type":"gene"},{"created":"2023-07-26T09:56:21.528768+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1028","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF4-related to Intellectual developmental disorder, autosomal dominant 73, MIM# 620450","entity_name":"TAF4","entity_type":"gene"},{"created":"2023-07-26T09:55:49.575962+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1027","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TAF4: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 73, MIM# 620450","entity_name":"TAF4","entity_type":"gene"},{"created":"2023-07-25T18:39:14.221948+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA60 as ready","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:39:14.206189+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa60 has been classified as Green List (High Evidence).","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:39:08.914306+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NAA60 as Green List (high evidence)","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:39:08.904715+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa60 has been classified as Green List (High Evidence).","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:38:39.524727+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAA60 was added\ngene: NAA60 was added to Regression. Sources: Other\nMode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAA60 were set to Basal ganglia calcification, MONDO:0008947, NAA60-related\nReview for gene: NAA60 was set to GREEN\nAdded comment: ESHG 2023:\r\n10 individuals from 7 families with biallelic variants in NAA60 (missense and framshift).\r\nAll with primary brain calcification - 4/10 childhood onset (DD, ID), 6/10 adult onset (cerebellar and pyramidal dysfunction, dystonia, parkinsonism, cognitive impairment, psychiatric manifestations).\r\n\r\nNAA60 catalyses N-terminal acetylation of transmembrane proteins and localises to Golgi apparatus. In vitro assay of variants showed reduced capacity of Nt acetylation. Fibroblast studies showed significantly reduced levels of phosphate importer (SLC20A2). Loss of function variants in SLC20A2 (~50% of PFBC cases) lead to increased extracellular phosphate (which is thought to lead to calcium deposits in brain). \nSources: Other","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:37:40.496362+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1027","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA60 as ready","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:37:40.485920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1027","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa60 has been classified as Green List (High Evidence).","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:37:07.538445+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1027","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAA60 were changed from Basal ganglia calcification to Basal ganglia calcification, MONDO:0008947, NAA60-related","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:36:42.573917+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA60 as ready","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:36:42.556695+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa60 has been classified as Green List (High Evidence).","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:36:36.502805+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAA60 were changed from Basal ganglia calcification to Basal ganglia calcification, MONDO:0008947, NAA60-related","entity_name":"NAA60","entity_type":"gene"},{"created":"2023-07-25T18:29:10.790561+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POPDC2 as ready","entity_name":"POPDC2","entity_type":"gene"},{"created":"2023-07-25T18:29:10.780121+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: popdc2 has been classified as Green List (High Evidence).","entity_name":"POPDC2","entity_type":"gene"},{"created":"2023-07-25T18:29:02.836278+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POPDC2 were changed from Sinus node dysfunction to Sinoatrial node disorder, MONDO:0000469, POPDC2-related","entity_name":"POPDC2","entity_type":"gene"},{"created":"2023-07-25T18:26:28.468850+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPATCH11 as ready","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:26:28.459808+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpatch11 has been classified as Green List (High Evidence).","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:26:26.113908+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:26:04.320598+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5294","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPATCH11 as ready","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:26:04.307373+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5294","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpatch11 has been classified as Green List (High Evidence).","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:25:59.676594+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5294","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:25:24.349177+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5293","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GPATCH11 as Green List (high evidence)","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:25:24.334697+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpatch11 has been classified as Green List (High Evidence).","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:24:31.291798+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1025","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPATCH11 as ready","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:24:31.276836+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1025","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpatch11 has been classified as Green List (High Evidence).","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:24:21.735144+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1025","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-25T18:22:04.178494+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5292","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA3 as ready","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-25T18:22:04.160959+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna3 has been classified as Green List (High Evidence).","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-25T18:21:49.132846+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5292","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-25T18:21:09.484733+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1871","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA3 as ready","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-25T18:21:09.474297+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1871","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna3 has been classified as Green List (High Evidence).","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-25T18:21:06.630282+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1871","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder with epilepsy to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-25T18:20:15.193435+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1024","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA3 as ready","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-25T18:20:15.184453+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1024","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna3 has been classified as Green List (High Evidence).","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-25T18:20:06.645808+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1024","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-25T18:18:04.443854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1023","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FSD1L as ready","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-25T18:18:04.433025+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1023","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fsd1l has been classified as Green List (High Evidence).","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-25T18:17:54.999808+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1023","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, FSD1L-related","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-25T18:17:24.840695+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5291","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FSD1L as ready","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-25T18:17:24.827383+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fsd1l has been classified as Green List (High Evidence).","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-25T18:17:19.994089+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5291","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, FSD1L-related","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-25T18:15:36.605842+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1022","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DENND5B as ready","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-25T18:15:36.598545+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1022","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dennd5b has been classified as Green List (High Evidence).","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-25T18:15:27.947647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1022","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-25T18:15:01.315558+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DENND5B as ready","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-25T18:15:01.303061+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dennd5b has been classified as Green List (High Evidence).","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-25T18:14:24.040693+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5290","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-25T18:13:40.580346+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DENND5B as ready","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-25T18:13:40.573212+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dennd5b has been classified as Green List (High Evidence).","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-25T18:13:32.854153+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-25T18:11:44.822209+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5289","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DMAP1 as ready","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-25T18:11:44.810981+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmap1 has been classified as Green List (High Evidence).","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-25T18:11:28.555925+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5289","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DMAP1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DMAP1-related","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-25T18:10:41.954420+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1021","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DMAP1 as ready","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-25T18:10:41.942592+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1021","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmap1 has been classified as Green List (High Evidence).","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-25T18:10:28.385917+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1021","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DMAP1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DMAP1-related","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-25T18:09:18.571200+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1020","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VGLL2 as ready","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-25T18:09:18.560033+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1020","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vgll2 has been classified as Green List (High Evidence).","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-25T18:09:10.458278+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1020","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VGLL2 were changed from Syngnathia to Syngnathia, MONDO:0015409, VGLL2-related","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-25T18:08:41.412474+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VGLL2 as ready","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-25T18:08:41.404379+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vgll2 has been classified as Green List (High Evidence).","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-25T18:08:38.500398+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VGLL2 were changed from Syngnathia to Syngnathia, MONDO:0015409, VGLL2-related","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-25T18:07:17.396365+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZIC1 as ready","entity_name":"ZIC1","entity_type":"gene"},{"created":"2023-07-25T18:07:17.387655+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zic1 has been classified as Red List (Low Evidence).","entity_name":"ZIC1","entity_type":"gene"},{"created":"2023-07-25T18:05:32.421491+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2176","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A6 as Red List (low evidence)","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-25T18:05:32.413155+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a6 has been classified as Red List (Low Evidence).","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-25T18:05:19.856789+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2175","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813;\r\n\r\nFamily A: \r\n- Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6\r\n- hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this.\r\n\r\nFamily B: \r\n- Variant does not segregate within family with the proband being WT in this gene\r\n- NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly.\r\n\r\nIn addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed rating: RED; Changed publications: 33840813; Changed phenotypes: Deafness, X-linked 6 MIM#300914; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-25T18:04:12.246141+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.158","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A6 as Amber List (moderate evidence)","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-25T18:04:12.229318+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a6 has been classified as Amber List (Moderate Evidence).","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-25T18:03:42.607662+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.157","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COL4A6: Changed rating: AMBER","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-25T18:03:34.769034+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.157","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813\r\n\r\nFamily A: \r\n- Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6\r\n- hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this.\r\n\r\nFamily B: \r\n- Variant does not segregate within family with the proband being WT in this gene\r\n- NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly.\r\n\r\nIn addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed publications: 23714752, 33840813","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-25T18:02:32.612443+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1019","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL4A6 were set to 23714752; 12784310","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-25T18:01:54.244278+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1018","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A6 as Amber List (moderate evidence)","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-25T18:01:54.226146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1018","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a6 has been classified as Amber List (Moderate Evidence).","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-25T17:59:57.573239+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1017","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders to Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders; Neurodevelopmental disorder (MONDO#0700092), HCN2-related","entity_name":"HCN2","entity_type":"gene"},{"created":"2023-07-25T17:59:28.946034+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1016","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HCN2: Added comment: ICG congress 2023: cohort presented with ID as key feature.; Changed phenotypes: Febrile seizures, familial, 2, MIM# 602477, Genetic epilepsy with febrile seizures plus, Other seizure disorders, Neurodevelopmental disorder (MONDO#0700092), HCN2-related","entity_name":"HCN2","entity_type":"gene"},{"created":"2023-07-25T17:58:44.853829+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HCN2 as ready","entity_name":"HCN2","entity_type":"gene"},{"created":"2023-07-25T17:58:44.845940+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hcn2 has been classified as Amber List (Moderate Evidence).","entity_name":"HCN2","entity_type":"gene"},{"created":"2023-07-25T17:58:33.172823+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5288","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2 MIM#602477; Generalized epilepsy with febrile seizures plus, type 11 MIM#602477; {Epilepsy, idiopathic generalized, susceptibility to, 17}\tMIM#602477; Neurodevelopmental disorder (MONDO#0700092), HCN2-related to Neurodevelopmental disorder (MONDO#0700092), HCN2-related","entity_name":"HCN2","entity_type":"gene"},{"created":"2023-07-25T17:57:51.785791+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5287","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HCN2 as Amber List (moderate evidence)","entity_name":"HCN2","entity_type":"gene"}]}