{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1053","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1051","results":[{"created":"2022-01-13T15:11:56.276591+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1988","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAMLD1 were changed from X-LINKED HYPOSPADIAS TYPE 2 to Hypospadias 2 (MIM#300758)","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:11:40.713432+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1987","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAMLD1 were set to ","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:11:27.709481+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1986","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAMLD1 as Green List (high evidence)","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:11:27.699010+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1986","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mamld1 has been classified as Green List (High Evidence).","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:11:07.199385+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1985","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:10:59.522695+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1985","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: MAMLD1: Multiple individuals reported with hypospadias PMID: 26815876: 3’UTR is associated with increased risk of isolated hypospadias in Indian children","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:10:58.615185+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1985","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2 (MIM#300758); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:09:54.106354+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10611","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAMLD1 as ready","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:09:54.094921+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10611","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mamld1 has been classified as Green List (High Evidence).","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:09:36.947808+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10611","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAMLD1 were changed from  to Hypospadias 2 (MIM#300758)","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:09:17.528622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10610","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAMLD1 were set to ","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:08:58.155825+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10609","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAMLD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:08:18.181641+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10608","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2 (MIM#300758); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:06:58.856204+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAMLD1 as ready","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:06:58.846233+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mamld1 has been classified as Green List (High Evidence).","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:06:55.746522+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAMLD1 were changed from  to Hypospadias 2 (MIM#300758)","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:05:01.720547+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAMLD1 were set to ","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:04:27.087937+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAMLD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MAMLD1","entity_type":"gene"},{"created":"2022-01-13T15:02:58.618750+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1985","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGA8 as ready","entity_name":"ITGA8","entity_type":"gene"},{"created":"2022-01-13T15:02:58.607647+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1985","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itga8 has been classified as Green List (High Evidence).","entity_name":"ITGA8","entity_type":"gene"},{"created":"2022-01-13T15:02:53.458077+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1985","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITGA8 were set to 24439109","entity_name":"ITGA8","entity_type":"gene"},{"created":"2022-01-13T15:02:30.178147+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1984","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGA8 as Green List (high evidence)","entity_name":"ITGA8","entity_type":"gene"},{"created":"2022-01-13T15:02:30.163131+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1984","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itga8 has been classified as Green List (High Evidence).","entity_name":"ITGA8","entity_type":"gene"},{"created":"2022-01-13T15:01:35.375776+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1983","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP5K as ready","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-13T15:01:35.364973+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1983","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp5k has been classified as Amber List (Moderate Evidence).","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-13T15:01:31.244966+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1983","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP5K were changed from Muscular dystrophy, congenital, with cataracts and intellectual disability to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-13T15:01:10.796283+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1982","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INPP5K were set to ","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-13T14:59:55.826185+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1981","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMP2 as ready","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-01-13T14:59:55.813230+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1981","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamp2 has been classified as Red List (Low Evidence).","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-01-13T14:59:47.482369+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1981","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMP2 were changed from DANON DISEASE to Danon disease (MIM#300257)","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-01-13T14:59:36.038228+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1980","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMP2 were set to ","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-01-13T14:58:30.078325+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10608","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP5K as ready","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-13T14:58:30.060741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10608","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp5k has been classified as Green List (High Evidence).","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-13T14:58:20.867913+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10608","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP5K were changed from  to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-13T14:58:01.397784+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10607","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INPP5K were set to ","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-13T14:57:41.993934+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10606","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-13T14:45:26.682960+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1979","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMB3 as ready","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-01-13T14:45:26.669189+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1979","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb3 has been classified as Red List (Low Evidence).","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-01-13T14:45:18.043982+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1979","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMB3 were set to ","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-01-13T14:45:01.510788+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1978","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, junctional, non-Herlitz type (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-01-13T14:43:08.481765+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10605","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGFBP7 as ready","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:43:08.472085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10605","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igfbp7 has been classified as Amber List (Moderate Evidence).","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:43:00.736498+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10605","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGFBP7 were changed from  to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:42:38.792886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10604","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGFBP7 were set to ","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:42:12.350355+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10603","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IGFBP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:41:54.843197+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10602","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IGFBP7 as Amber List (moderate evidence)","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:41:54.824082+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10602","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igfbp7 has been classified as Amber List (Moderate Evidence).","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:41:33.984129+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10601","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: IGFBP7.","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:41:21.381119+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10601","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGFBP7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:40:28.220340+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1978","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGFBP7 as ready","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:40:28.205439+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1978","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igfbp7 has been classified as Red List (Low Evidence).","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:40:24.343762+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1978","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGFBP7 were changed from RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:40:11.253319+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1977","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGFBP7 were set to ","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:39:58.261106+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1976","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IGFBP7 as Red List (low evidence)","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:39:58.246644+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1976","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igfbp7 has been classified as Red List (Low Evidence).","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-13T14:38:04.073267+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1975","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA3 as ready","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-01-13T14:38:04.051241+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1975","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama3 has been classified as Red List (Low Evidence).","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-01-13T14:37:59.517183+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1975","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional 226700 to Epidermolysis bullosa, junctional, Herlitz type (MIM#226700)","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-01-13T14:37:44.553607+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1974","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMA3 were set to ","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-01-13T14:37:27.600919+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1973","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, generalized atrophic benign (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-01-13T14:36:02.034210+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1973","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:KIT from the panel","entity_name":null,"entity_type":null},{"created":"2022-01-13T12:12:41.684328+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1972","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSD2 as ready","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T12:12:41.674184+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1972","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsd2 has been classified as Green List (High Evidence).","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T12:12:36.552385+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1972","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NSD2 as Green List (high evidence)","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T12:12:36.525432+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1972","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsd2 has been classified as Green List (High Evidence).","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T12:12:22.486595+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1971","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NSD2 was added\ngene: NSD2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSD2 were set to 30345613; 31171569\nPhenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, MIM# 619695\nReview for gene: NSD2 was set to GREEN\nAdded comment: 7 unrelated individuals reported with LOF variants. Gene thought to be responsible for many of the features of Wolf-Hirschorn syndrome.\r\n\r\nPrenatal growth retardation is a feature. \nSources: Literature","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T12:08:42.269408+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4433","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSD2 were changed from Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T12:08:05.418286+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4432","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NSD2: Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T12:07:49.695569+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.92","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSD2 were changed from Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T12:07:00.407571+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NSD2: Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T12:06:41.084192+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10601","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSD2 were changed from Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T12:06:20.179790+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10600","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NSD2: Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability","entity_name":"NSD2","entity_type":"gene"},{"created":"2022-01-13T10:13:12.238936+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1970","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SMAD4 as ready","entity_name":"SMAD4","entity_type":"gene"},{"created":"2022-01-13T10:13:12.227515+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1970","user_name":"Seb Lunke","item_type":"entity","text":"Gene: smad4 has been classified as Green List (High Evidence).","entity_name":"SMAD4","entity_type":"gene"},{"created":"2022-01-13T10:08:52.763939+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1970","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME to Myhre syndrome, OMIM#139210, MONDO:0007688","entity_name":"SMAD4","entity_type":"gene"},{"created":"2022-01-13T10:08:30.473331+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1969","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myhre syndrome, OMIM#139210, MONDO:0007688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SMAD4","entity_type":"gene"},{"created":"2022-01-13T09:32:24.301078+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1969","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SMAD3 as ready","entity_name":"SMAD3","entity_type":"gene"},{"created":"2022-01-13T09:32:24.287249+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1969","user_name":"Seb Lunke","item_type":"entity","text":"Gene: smad3 has been classified as Green List (High Evidence).","entity_name":"SMAD3","entity_type":"gene"},{"created":"2022-01-13T09:32:08.289614+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1969","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SMAD3 were changed from SMAD3-RELATED LOEYS-DIETZ SYNDROME to Loeys-Dietz syndrome, SMAD3 related, MIM#613795, MONDO:0018954","entity_name":"SMAD3","entity_type":"gene"},{"created":"2022-01-13T09:31:23.629766+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1968","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome, MIM#613795, MONDO:0018954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SMAD3","entity_type":"gene"},{"created":"2022-01-13T09:27:21.243025+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1968","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC33A1 as ready","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2022-01-13T09:27:21.231836+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1968","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc33a1 has been classified as Green List (High Evidence).","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2022-01-13T09:27:07.104145+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1968","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC33A1 were changed from AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN to CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2022-01-13T09:26:49.015999+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1967","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SLC33A1 were set to ","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2022-01-13T09:26:26.976883+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1966","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315; Phenotypes: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2022-01-12T20:41:52.192270+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10600","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KISS1R as ready","entity_name":"KISS1R","entity_type":"gene"},{"created":"2022-01-12T20:41:52.183045+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10600","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiss1r has been classified as Green List (High Evidence).","entity_name":"KISS1R","entity_type":"gene"},{"created":"2022-01-12T20:40:30.563069+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10600","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KISS1R were changed from  to Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)","entity_name":"KISS1R","entity_type":"gene"},{"created":"2022-01-12T20:40:09.965200+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10599","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KISS1R were set to ","entity_name":"KISS1R","entity_type":"gene"},{"created":"2022-01-12T20:39:52.384094+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1966","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KISS1R as ready","entity_name":"KISS1R","entity_type":"gene"},{"created":"2022-01-12T20:39:52.373455+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1966","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiss1r has been classified as Red List (Low Evidence).","entity_name":"KISS1R","entity_type":"gene"},{"created":"2022-01-12T20:36:52.450147+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10598","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KISS1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KISS1R","entity_type":"gene"},{"created":"2022-01-12T20:36:14.944586+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10597","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164310, 31073722, 14573733; Phenotypes: Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KISS1R","entity_type":"gene"},{"created":"2022-01-12T20:35:07.952631+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1966","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KISS1R were set to ","entity_name":"KISS1R","entity_type":"gene"},{"created":"2022-01-12T20:33:59.144344+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1965","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCTD7 as ready","entity_name":"KCTD7","entity_type":"gene"},{"created":"2022-01-12T20:33:59.130925+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1965","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kctd7 has been classified as Red List (Low Evidence).","entity_name":"KCTD7","entity_type":"gene"},{"created":"2022-01-12T20:33:55.291555+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1965","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCTD7 were changed from PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3; NEURONAL CEROID LIPOFUSCINOSIS to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)","entity_name":"KCTD7","entity_type":"gene"},{"created":"2022-01-12T20:33:41.318402+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1964","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCTD7 were set to ","entity_name":"KCTD7","entity_type":"gene"},{"created":"2022-01-12T20:33:04.283580+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1963","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IDH1 as ready","entity_name":"IDH1","entity_type":"gene"},{"created":"2022-01-12T20:33:04.272976+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1963","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: idh1 has been classified as Red List (Low Evidence).","entity_name":"IDH1","entity_type":"gene"}]}