{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1956","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1954","results":[{"created":"2020-01-30T16:46:36.689281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1034","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcnka has been classified as Amber List (Moderate Evidence).","entity_name":"CLCNKA","entity_type":"gene"},{"created":"2020-01-30T16:25:51.202535+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1033","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC9A3R1 were set to ","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:25:30.308200+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1032","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:24:54.473908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1031","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC9A3R1 as Red List (low evidence)","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:24:54.467710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1031","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a3r1 has been classified as Red List (Low Evidence).","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:24:35.193130+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1030","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: None; Publications: 18784102; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:22:07.686035+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC9A3R1 as ready","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:22:07.596780+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a3r1 has been classified as Red List (Low Evidence).","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:16:31.190034+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:15:50.306590+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC9A3R1 were changed from  to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:15:00.496347+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC9A3R1 were set to ","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:13:48.946470+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC9A3R1 as Red List (low evidence)","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:13:48.940828+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a3r1 has been classified as Red List (Low Evidence).","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T16:13:15.419028+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: None; Publications: 18784102; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2020-01-30T15:38:45.503514+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE3A as ready","entity_name":"PDE3A","entity_type":"gene"},{"created":"2020-01-30T15:38:45.495279+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde3a has been classified as Green List (High Evidence).","entity_name":"PDE3A","entity_type":"gene"},{"created":"2020-01-30T15:38:15.779387+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome, MIM# 112410 to Hypertension and brachydactyly syndrome, MIM# 112410","entity_name":"PDE3A","entity_type":"gene"},{"created":"2020-01-30T15:37:37.572416+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome, MIM# 112410 to Hypertension and brachydactyly syndrome, MIM# 112410","entity_name":"PDE3A","entity_type":"gene"},{"created":"2020-01-30T15:36:59.875815+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDE3A were changed from  to Hypertension and brachydactyly syndrome, MIM# 112410","entity_name":"PDE3A","entity_type":"gene"},{"created":"2020-01-30T15:36:20.623395+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDE3A were set to 25961942","entity_name":"PDE3A","entity_type":"gene"},{"created":"2020-01-30T15:35:42.750874+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDE3A were set to ","entity_name":"PDE3A","entity_type":"gene"},{"created":"2020-01-30T15:35:05.125076+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDE3A","entity_type":"gene"},{"created":"2020-01-30T15:34:18.036435+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDE3A: Rating: ; Mode of pathogenicity: None; Publications: 25961942; Phenotypes: Hypertension and brachydactyly syndrome, MIM# 112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDE3A","entity_type":"gene"},{"created":"2020-01-30T15:30:42.682745+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1030","user_name":"Kristin Rigbye","item_type":"entity","text":"commented on gene: SLC52A1","entity_name":"SLC52A1","entity_type":"gene"},{"created":"2020-01-30T15:30:38.844385+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.2","user_name":"Kristin Rigbye","item_type":"entity","text":"commented on gene: SLC52A1","entity_name":"SLC52A1","entity_type":"gene"},{"created":"2020-01-30T15:30:08.422601+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1030","user_name":"Kristin Rigbye","item_type":"entity","text":"commented on gene: PTCH2","entity_name":"PTCH2","entity_type":"gene"},{"created":"2020-01-30T15:29:58.513182+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.12","user_name":"Kristin Rigbye","item_type":"entity","text":"commented on gene: PTCH2","entity_name":"PTCH2","entity_type":"gene"},{"created":"2020-01-30T14:54:35.434859+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1030","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EGF as ready","entity_name":"EGF","entity_type":"gene"},{"created":"2020-01-30T14:54:35.428920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1030","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: egf has been classified as Red List (Low Evidence).","entity_name":"EGF","entity_type":"gene"},{"created":"2020-01-30T14:54:26.087673+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1030","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EGF","entity_type":"gene"},{"created":"2020-01-30T14:52:39.861920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1029","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EGF were changed from  to Hypomagnesemia 4, renal, MIM#611718","entity_name":"EGF","entity_type":"gene"},{"created":"2020-01-30T14:52:19.396347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1028","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EGF were set to ","entity_name":"EGF","entity_type":"gene"},{"created":"2020-01-30T14:50:54.072661+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1027","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EGF as Red List (low evidence)","entity_name":"EGF","entity_type":"gene"},{"created":"2020-01-30T14:50:53.952853+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1027","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: egf has been classified as Red List (Low Evidence).","entity_name":"EGF","entity_type":"gene"},{"created":"2020-01-30T14:49:38.478568+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EGF: Rating: RED; Mode of pathogenicity: None; Publications: 17671655; Phenotypes: Hypomagnesemia 4, renal, MIM#611718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EGF","entity_type":"gene"},{"created":"2020-01-30T14:35:48.822627+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLCNKA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM #613090; Mode of inheritance: Other","entity_name":"CLCNKA","entity_type":"gene"},{"created":"2020-01-30T14:32:56.996458+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1781","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLCNKA as Red List (low evidence)","entity_name":"CLCNKA","entity_type":"gene"},{"created":"2020-01-30T14:32:56.990008+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1781","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcnka has been classified as Red List (Low Evidence).","entity_name":"CLCNKA","entity_type":"gene"},{"created":"2020-01-30T14:32:22.206810+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1780","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCNKA: Added comment: Two families reported, and note digenic inheritance for Bartter postulated. PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C). PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.\r\n\r\nID has been described for Bartter, but since gene-disease association for Bartter itself is not well established, demote to Red.; Changed rating: RED","entity_name":"CLCNKA","entity_type":"gene"},{"created":"2020-01-30T14:25:18.433918+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperaldosteronism, familial, type II 605635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CLCN2","entity_type":"gene"},{"created":"2020-01-30T14:20:39.590950+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1780","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28343630, 31916397, 30795918, 29758292; Phenotypes: Jansen de Vries syndrome (MIM #617450); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPM1D","entity_type":"gene"},{"created":"2020-01-30T13:34:16.957120+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: 19251977; Phenotypes: Pierson syndrome, MIM# 609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-01-30T12:00:15.354571+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1780","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA2D2 as ready","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2020-01-30T12:00:15.343326+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1780","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d2 has been classified as Green List (High Evidence).","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2020-01-30T12:00:08.069226+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1780","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNA2D2 as Green List (high evidence)","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2020-01-30T12:00:08.047574+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1780","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d2 has been classified as Green List (High Evidence).","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2020-01-30T11:55:56.140762+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1779","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA2D2 was added\ngene: CACNA2D2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424\nPhenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay, MIM#618501\nReview for gene: CACNA2D2 was set to GREEN\nAdded comment: Multiple affected individuals reported; DD/ID is variable but present in most. \nSources: Expert list","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2020-01-30T11:47:44.703866+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1778","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CA5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-01-30T11:47:13.747532+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1777","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CA5A as Red List (low evidence)","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-01-30T11:47:13.740799+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1777","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ca5a has been classified as Red List (Low Evidence).","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-01-30T11:46:35.439879+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1776","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CA5A: Rating: RED; Mode of pathogenicity: None; Publications: 26913920; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-01-30T11:42:53.007386+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1776","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C8orf37 as ready","entity_name":"C8orf37","entity_type":"gene"},{"created":"2020-01-30T11:42:53.000503+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1776","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c8orf37 has been classified as Amber List (Moderate Evidence).","entity_name":"C8orf37","entity_type":"gene"},{"created":"2020-01-30T11:42:47.318077+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1776","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C8orf37 as Amber List (moderate evidence)","entity_name":"C8orf37","entity_type":"gene"},{"created":"2020-01-30T11:42:47.297619+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1776","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c8orf37 has been classified as Amber List (Moderate Evidence).","entity_name":"C8orf37","entity_type":"gene"},{"created":"2020-01-30T11:38:24.540651+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1775","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C8orf37 was added\ngene: C8orf37 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C8orf37 were set to 26854863; 27008867\nPhenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406\nReview for gene: C8orf37 was set to AMBER\nAdded comment: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies. \nSources: Expert list","entity_name":"C8orf37","entity_type":"gene"},{"created":"2020-01-29T22:19:05.400840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FST as ready","entity_name":"FST","entity_type":"gene"},{"created":"2020-01-29T22:19:05.392661+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fst has been classified as Red List (Low Evidence).","entity_name":"FST","entity_type":"gene"},{"created":"2020-01-29T22:11:59.847552+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYRF as ready","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-01-29T22:11:59.840675+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myrf has been classified as Green List (High Evidence).","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-01-29T22:11:47.505522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYRF as Green List (high evidence)","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-01-29T22:11:47.498747+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myrf has been classified as Green List (High Evidence).","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-01-29T22:11:27.290150+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYRF as ready","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-01-29T22:11:27.283244+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myrf has been classified as Green List (High Evidence).","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-01-29T22:11:23.343091+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1025","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYRF was added\ngene: MYRF was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225\nPhenotypes for gene: MYRF were set to Nanophthalmos; High hyperopia\nReview for gene: MYRF was set to GREEN\ngene: MYRF was marked as current diagnostic\nAdded comment: Multiple affected individuals reported. \nSources: Expert list","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-01-29T22:10:56.136268+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYRF as Green List (high evidence)","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-01-29T22:10:56.129253+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myrf has been classified as Green List (High Evidence).","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-01-29T22:09:43.276793+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYRF was added\ngene: MYRF was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list\nMode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225\nPhenotypes for gene: MYRF were set to Nanophthalmos; High hyperopia\nReview for gene: MYRF was set to GREEN\nAdded comment: Multiple families reported. \nSources: Expert list","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-01-29T22:04:30.592285+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2CD3 as ready","entity_name":"C2CD3","entity_type":"gene"},{"created":"2020-01-29T22:04:30.584823+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2cd3 has been classified as Green List (High Evidence).","entity_name":"C2CD3","entity_type":"gene"},{"created":"2020-01-29T22:04:18.372725+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, MIM# 615948 to Orofaciodigital syndrome XIV, MIM# 615948","entity_name":"C2CD3","entity_type":"gene"},{"created":"2020-01-29T22:03:43.732013+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1773","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C2CD3 were changed from  to Orofaciodigital syndrome XIV, MIM# 615948","entity_name":"C2CD3","entity_type":"gene"},{"created":"2020-01-29T22:03:09.888776+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1773","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C2CD3 were set to ","entity_name":"C2CD3","entity_type":"gene"},{"created":"2020-01-29T22:02:31.958187+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1772","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2CD3","entity_type":"gene"},{"created":"2020-01-29T22:01:43.227198+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1771","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30097616, 27094867, 26477546, 24997988; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2CD3","entity_type":"gene"},{"created":"2020-01-29T21:53:52.687604+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1771","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BSND: Added comment: Downgrade to Amber after review against GEL panel; ID not a consistent/predominant feature of Bartter syndrome.; Changed rating: AMBER","entity_name":"BSND","entity_type":"gene"},{"created":"2020-01-29T21:52:00.938751+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1771","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRIP1","entity_type":"gene"},{"created":"2020-01-29T21:44:32.365044+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1771","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BMPER as Red List (low evidence)","entity_name":"BMPER","entity_type":"gene"},{"created":"2020-01-29T21:44:32.358158+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1771","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmper has been classified as Red List (Low Evidence).","entity_name":"BMPER","entity_type":"gene"},{"created":"2020-01-29T21:43:47.542759+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1770","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BMPER as Red List (low evidence)","entity_name":"BMPER","entity_type":"gene"},{"created":"2020-01-29T21:43:47.535875+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1770","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmper has been classified as Red List (Low Evidence).","entity_name":"BMPER","entity_type":"gene"},{"created":"2020-01-29T21:43:01.757863+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1769","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BMPER: Added comment: Perinatal lethal skeletal dysplasia, not appropriate for this panel.; Changed rating: RED","entity_name":"BMPER","entity_type":"gene"},{"created":"2020-01-29T21:40:15.564368+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1769","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BIN1 as ready","entity_name":"BIN1","entity_type":"gene"},{"created":"2020-01-29T21:40:15.556957+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1769","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bin1 has been classified as Red List (Low Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2020-01-29T21:40:08.093523+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1769","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BIN1 were changed from Centronuclear myopathy 2, MIM# 255200 to Centronuclear myopathy 2, MIM# 255200","entity_name":"BIN1","entity_type":"gene"},{"created":"2020-01-29T21:39:28.106579+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1768","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BIN1 were changed from  to Centronuclear myopathy 2, MIM# 255200","entity_name":"BIN1","entity_type":"gene"},{"created":"2020-01-29T21:38:53.928499+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1767","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BIN1","entity_type":"gene"},{"created":"2020-01-29T21:38:16.654217+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1767","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BIN1 as Red List (low evidence)","entity_name":"BIN1","entity_type":"gene"},{"created":"2020-01-29T21:38:16.645052+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1767","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bin1 has been classified as Red List (Low Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2020-01-29T21:37:31.409856+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1766","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BIN1","entity_type":"gene"},{"created":"2020-01-29T20:14:59.414632+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1766","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V1A as ready","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-01-29T20:14:59.407239+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1766","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1a has been classified as Green List (High Evidence).","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-01-29T20:14:10.265855+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1766","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP6V1A as Green List (high evidence)","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-01-29T20:14:10.257468+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1766","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1a has been classified as Green List (High Evidence).","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-01-29T20:13:27.908484+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1765","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP6V1A as Green List (high evidence)","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-01-29T20:13:27.901322+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1765","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1a has been classified as Green List (High Evidence).","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-01-29T20:12:23.227000+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1764","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V1A was added\ngene: ATP6V1A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ATP6V1A were set to 29668857; 28065471\nPhenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403\nMode of pathogenicity for gene: ATP6V1A was set to Other\nReview for gene: ATP6V1A was set to GREEN\ngene: ATP6V1A was marked as current diagnostic\nAdded comment: Both mono-allelic and bi-allelic variants associated with ID, evidence for both LoF and GoF for the mono-allelic variants. \nSources: Expert list","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-01-29T20:05:35.679279+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1763","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP1A2 as ready","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-01-29T20:05:35.671763+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1763","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a2 has been classified as Green List (High Evidence).","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-01-29T20:05:23.378441+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1763","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290 to Alternating hemiplegia of childhood 1, MIM# 104290","entity_name":"ATP1A2","entity_type":"gene"}]}