{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1835","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1833","results":[{"created":"2020-04-20T11:43:06.057669+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: baz2b has been classified as Green List (High Evidence).","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:43:00.385752+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BAZ2B as Green List (high evidence)","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:43:00.376356+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: baz2b has been classified as Green List (High Evidence).","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:41:31.932030+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BAZ2B was added\ngene: BAZ2B was added to Autism. Sources: Literature\nMode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAZ2B were set to 31999386; 28135719; 25363768\nPhenotypes for gene: BAZ2B were set to Intellectual disability; autism\nReview for gene: BAZ2B was set to GREEN\nAdded comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent \nSources: Literature","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:40:12.739856+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2528","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BAZ2B as ready","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:40:12.725399+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2528","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: baz2b has been classified as Green List (High Evidence).","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:40:03.171105+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2528","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BAZ2B as Green List (high evidence)","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:40:03.157760+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2528","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: baz2b has been classified as Green List (High Evidence).","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:39:30.060390+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2527","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BAZ2B was added\ngene: BAZ2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAZ2B were set to 31999386\nPhenotypes for gene: BAZ2B were set to Intellectual disability; autism\nReview for gene: BAZ2B was set to GREEN\nAdded comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent \nSources: Literature","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:39:11.086441+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2361","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BAZ2B as ready","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:39:11.069535+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: baz2b has been classified as Green List (High Evidence).","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:38:46.555759+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2361","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BAZ2B as Green List (high evidence)","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:38:46.543691+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: baz2b has been classified as Green List (High Evidence).","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:38:20.366378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2360","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BAZ2B was added\ngene: BAZ2B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAZ2B were set to 31999386; 28135719; 25363768\nPhenotypes for gene: BAZ2B were set to Intellectual disability; autism\nReview for gene: BAZ2B was set to GREEN\nAdded comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent \nSources: Literature","entity_name":"BAZ2B","entity_type":"gene"},{"created":"2020-04-20T11:23:12.703664+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.32","user_name":"Crystle Lee","item_type":"entity","text":"gene: TINF2 was added\ngene: TINF2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TINF2 were set to 18252230; 18979121; 18669893; 21477109\nPhenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (MIM#613990); Revesz syndrome (MIM#268130)\nReview for gene: TINF2 was set to GREEN\nAdded comment: Cerebellar hypoplasia is reported but not a consistent feature. Commonly associated with specific variants reported to cause dyskeratosis congenita and features of Hoyeraal-Hreidarsson and Revesz syndrome. The variants in patients with HH and/or RS are clustered at aa 280, 282, and 283 (Walne 2008)\r\n\r\nPMID: 18252230; Savage 2008: Cerebellar hypoplasia reported one proband diagnosed with dyskeratosis congenita and  Revesz syndrome. Same missense, R282H, reported in 2 other individuals who did not have cerebellar hypoplasia\r\nPMID: 18979121; Tsangaris 2008: 1 proband with the same R282H reported. Cerebellar hypoplasia noted.\r\nPMID: 18669893; Walne 2008: Cerebellar hypoplasia reported in 1 of 14 patients with R282H\r\nPMID: 21477109; Sasa 2013: Cerebellar hypoplasia reported in 1 patient, p.(K280RfsX36). \r\nPanelApp UK: \"Variable cerebellar hypoplasia seen in this condition\" Green \nSources: Expert Review","entity_name":"TINF2","entity_type":"gene"},{"created":"2020-04-20T10:39:25.976682+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.32","user_name":"Crystle Lee","item_type":"entity","text":"gene: TMEM5 was added\ngene: TMEM5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM5 were set to 23217329\nPhenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (MIM#615041)\nReview for gene: TMEM5 was set to GREEN\nAdded comment: Associated with cerebellar dysplasia. This gene is also known as RXYLT1\r\n\r\nPMID: 23217329; Vuillaumier-Barrot 2012: Reported hom variants in 5 families with cobblestone lissencephaly. \r\nPMID: 27212206; Guja Astrea 2016; Reported one patient with  dysplastic cerebellar cortex, and small subcortical cerebellar cysts. Hypoplasia of the pons with a ventral cleft and a dilated and dysmorphic fourth ventricle. \nSources: Expert Review","entity_name":"TMEM5","entity_type":"gene"},{"created":"2020-04-20T10:12:16.257845+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.32","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CEP55: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28264986, 32100459, 28295209; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP55","entity_type":"gene"},{"created":"2020-04-20T10:04:04.756565+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.32","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TRAPPC6B: Rating: RED; Mode of pathogenicity: None; Publications: 28626029, 28397838; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC6B","entity_type":"gene"},{"created":"2020-04-20T09:29:21.252877+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.32","user_name":"Elena Savva","item_type":"entity","text":"gene: CACNA1G was added\ngene: CACNA1G was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CACNA1G were set to PMID: 29878067; 31217264; 26456284\nPhenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits\t 618087\nMode of pathogenicity for gene: CACNA1G was set to Other\nReview for gene: CACNA1G was set to GREEN\nAdded comment: OMIM notes Cerebellar hypoplasia as a phenotype\r\n\r\nMechanism currently listed as unknown, with evidence of both LoF and GoF (PMID: 31217264). PMID: 29878067  demonstrated impaired channel inactivation with slower inactivation and deactivation kinetics (suggesting GOF). Given only missense have been reported, this is the likely mechanism of disease.\r\n\r\nPMID: 29878067 - cerebellar ataxia observed in 4 children, global atrophy in 3/4 and vermis atrophy in 1/4. All showed normal pons. Three children share a recurring de novo missense (p.Ala961Thr).\r\n\r\nPMID: 26456284 - overlapping authors with 29878067 but describes familial cases. Additional (adult and children) patients with cerebellar hypoplasia and vermian atrophy \nSources: Expert Review","entity_name":"CACNA1G","entity_type":"gene"},{"created":"2020-04-20T09:16:42.816565+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.32","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia\r\n\r\nBrainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)\r\nBreuss M: Cerebellum abnormalities reported in 3 patients. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)\r\nDecipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis\r\nRed in PanelApp UK \nSources: Expert Review; to: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia\r\n\r\nBrainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)\r\nBreuss M: Cerebellum abnormalities reported in 3 patients with de novo missense variants. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)\r\nDecipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis\r\nRed in PanelApp UK \r\nSources: Expert Review","entity_name":"TUBB","entity_type":"gene"},{"created":"2020-04-20T09:14:18.030568+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.32","user_name":"Crystle Lee","item_type":"entity","text":"gene: TUBB was added\ngene: TUBB was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TUBB were set to 23246003\nPhenotypes for gene: TUBB were set to Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771)\nReview for gene: TUBB was set to AMBER\nAdded comment: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia\r\n\r\nBrainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)\r\nBreuss M: Cerebellum abnormalities reported in 3 patients. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)\r\nDecipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis\r\nRed in PanelApp UK \nSources: Expert Review","entity_name":"TUBB","entity_type":"gene"},{"created":"2020-04-20T08:58:21.498516+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.32","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27453576, 25979662; Phenotypes: Dias-Logan syndrome 617101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"BCL11A","entity_type":"gene"},{"created":"2020-04-20T08:33:29.662338+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ISCA1 as ready","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-04-20T08:33:29.653562+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-04-20T08:33:21.557390+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ISCA1 were set to ","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-04-20T08:32:22.477545+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ISCA1 as Green List (high evidence)","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-04-20T08:32:22.469048+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-04-20T08:32:11.304957+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ISCA1 was added\ngene: ISCA1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5 MIM#617613","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-04-20T08:30:39.061749+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-19T22:12:07.885253+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2359","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPI1 as ready","entity_name":"TPI1","entity_type":"gene"},{"created":"2020-04-19T22:12:07.876701+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2359","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpi1 has been classified as Green List (High Evidence).","entity_name":"TPI1","entity_type":"gene"},{"created":"2020-04-19T22:11:56.058856+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2359","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TPI1 as Green List (high evidence)","entity_name":"TPI1","entity_type":"gene"},{"created":"2020-04-19T22:11:56.045199+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2359","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpi1 has been classified as Green List (High Evidence).","entity_name":"TPI1","entity_type":"gene"},{"created":"2020-04-19T22:11:38.593606+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2358","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TPI1 was added\ngene: TPI1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, MIM#\t615512\nReview for gene: TPI1 was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"TPI1","entity_type":"gene"},{"created":"2020-04-19T21:56:51.056552+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2357","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EMG1 as ready","entity_name":"EMG1","entity_type":"gene"},{"created":"2020-04-19T21:56:51.043799+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emg1 has been classified as Amber List (Moderate Evidence).","entity_name":"EMG1","entity_type":"gene"},{"created":"2020-04-19T21:56:41.494377+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2357","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EMG1 as Amber List (moderate evidence)","entity_name":"EMG1","entity_type":"gene"},{"created":"2020-04-19T21:56:41.482164+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emg1 has been classified as Amber List (Moderate Evidence).","entity_name":"EMG1","entity_type":"gene"},{"created":"2020-04-19T21:56:23.696906+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2356","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EMG1 was added\ngene: EMG1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EMG1 were set to 19463982\nPhenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, MIM#211180\nReview for gene: EMG1 was set to AMBER\nAdded comment: Founder mutation in Hutterite, D86G. \nSources: Expert list","entity_name":"EMG1","entity_type":"gene"},{"created":"2020-04-19T21:52:18.177233+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2355","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF2AK4 as ready","entity_name":"EIF2AK4","entity_type":"gene"},{"created":"2020-04-19T21:52:18.164877+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2ak4 has been classified as Green List (High Evidence).","entity_name":"EIF2AK4","entity_type":"gene"},{"created":"2020-04-19T21:52:08.716784+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2355","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF2AK4 as Green List (high evidence)","entity_name":"EIF2AK4","entity_type":"gene"},{"created":"2020-04-19T21:52:08.703333+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2ak4 has been classified as Green List (High Evidence).","entity_name":"EIF2AK4","entity_type":"gene"},{"created":"2020-04-19T21:51:45.720392+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2354","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF2AK4 was added\ngene: EIF2AK4 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, MIM#234810\nReview for gene: EIF2AK4 was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"EIF2AK4","entity_type":"gene"},{"created":"2020-04-19T21:43:01.399537+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2353","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGBL5 as ready","entity_name":"AGBL5","entity_type":"gene"},{"created":"2020-04-19T21:43:01.386387+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2353","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agbl5 has been classified as Green List (High Evidence).","entity_name":"AGBL5","entity_type":"gene"},{"created":"2020-04-19T21:42:51.583436+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2353","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGBL5 as Green List (high evidence)","entity_name":"AGBL5","entity_type":"gene"},{"created":"2020-04-19T21:42:51.574571+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2353","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agbl5 has been classified as Green List (High Evidence).","entity_name":"AGBL5","entity_type":"gene"},{"created":"2020-04-19T21:42:33.781467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2352","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGBL5 was added\ngene: AGBL5 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGBL5 were set to 26720455; 26355662; 30925032\nPhenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, MIM#\t617023\nReview for gene: AGBL5 was set to GREEN\nAdded comment: At least three unrelated families reported. \nSources: Expert list","entity_name":"AGBL5","entity_type":"gene"},{"created":"2020-04-19T21:36:28.823411+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHOX as ready","entity_name":"SHOX","entity_type":"gene"},{"created":"2020-04-19T21:36:28.814673+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shox has been classified as Green List (High Evidence).","entity_name":"SHOX","entity_type":"gene"},{"created":"2020-04-19T21:32:26.607439+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ZFR as ready","entity_name":"ZFR","entity_type":"gene"},{"created":"2020-04-19T21:32:26.594145+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: zfr has been classified as Red List (Low Evidence).","entity_name":"ZFR","entity_type":"gene"},{"created":"2020-04-19T21:32:16.172919+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ZFR: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZFR","entity_type":"gene"},{"created":"2020-04-19T21:30:37.338817+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WDR48 as ready","entity_name":"WDR48","entity_type":"gene"},{"created":"2020-04-19T21:30:37.326840+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr48 has been classified as Red List (Low Evidence).","entity_name":"WDR48","entity_type":"gene"},{"created":"2020-04-19T21:30:29.716114+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR48 as Red List (low evidence)","entity_name":"WDR48","entity_type":"gene"},{"created":"2020-04-19T21:30:29.703260+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr48 has been classified as Red List (Low Evidence).","entity_name":"WDR48","entity_type":"gene"},{"created":"2020-04-19T21:30:20.651075+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: WDR48: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR48","entity_type":"gene"},{"created":"2020-04-19T21:27:47.034862+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: USP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: None","entity_name":"USP8","entity_type":"gene"},{"created":"2020-04-19T21:25:25.157649+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: A single case reported with complicated HSP.; to: A single case reported with complicated HSP. Cannot find evidence that spastic paraplegia is a prominent feature of the condition.","entity_name":"TPP1","entity_type":"gene"},{"created":"2020-04-19T21:24:50.214139+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: None; Publications: 27217339; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TPP1","entity_type":"gene"},{"created":"2020-04-19T21:22:37.939823+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis neuronal 2; complex hereditary spastic paraplegia to Ceroid lipofuscinosis neuronal 2","entity_name":"TPP1","entity_type":"gene"},{"created":"2020-04-19T21:20:07.085998+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.75","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MTPAP as Red List (low evidence)","entity_name":"MTPAP","entity_type":"gene"},{"created":"2020-04-19T21:20:07.072884+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.75","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtpap has been classified as Red List (Low Evidence).","entity_name":"MTPAP","entity_type":"gene"},{"created":"2020-04-19T21:19:55.687952+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.74","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: 20970105, 27391121; Phenotypes: Spastic ataxia 4, autosomal recessive MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTPAP","entity_type":"gene"},{"created":"2020-04-19T21:13:27.404629+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.74","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MARS","entity_type":"gene"},{"created":"2020-04-19T21:06:23.549676+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNHIT3 was added\ngene: ZNHIT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565 (3), Autosomal recessive","entity_name":"ZNHIT3","entity_type":"gene"},{"created":"2020-04-19T21:06:22.249364+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF711 was added\ngene: ZNF711 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3)","entity_name":"ZNF711","entity_type":"gene"},{"created":"2020-04-19T21:06:21.199565+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF469 was added\ngene: ZNF469 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1, 229200 (3)","entity_name":"ZNF469","entity_type":"gene"},{"created":"2020-04-19T21:06:20.133144+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF335 was added\ngene: ZNF335 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive","entity_name":"ZNF335","entity_type":"gene"},{"created":"2020-04-19T21:06:18.751908+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZMYND10 was added\ngene: ZMYND10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMYND10 were set to Ciliary dyskinesia, primary, 22, 615444 (3)","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-04-19T21:06:17.750996+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal, 275210 (3)","entity_name":"ZMPSTE24","entity_type":"gene"},{"created":"2020-04-19T21:06:16.547962+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZIC3 was added\ngene: ZIC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZIC3 were set to Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-04-19T21:06:15.543053+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700 (3)","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-04-19T21:06:14.256057+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZDHHC9 was added\ngene: ZDHHC9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3)","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2020-04-19T21:06:13.260028+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZC4H2 was added\ngene: ZC4H2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, 314580 (3)","entity_name":"ZC4H2","entity_type":"gene"},{"created":"2020-04-19T21:06:11.939411+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZBTB24 was added\ngene: ZBTB24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2020-04-19T21:06:10.947561+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZAP70 was added\ngene: ZAP70 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZAP70 were set to Selective T-cell defect, 269840 (3)","entity_name":"ZAP70","entity_type":"gene"},{"created":"2020-04-19T21:06:09.945500+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YARS2 was added\ngene: YARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)","entity_name":"YARS2","entity_type":"gene"},{"created":"2020-04-19T21:06:08.448464+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XYLT2 was added\ngene: XYLT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822 (3), Autosomal recessive","entity_name":"XYLT2","entity_type":"gene"},{"created":"2020-04-19T21:06:07.464755+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XYLT1 was added\ngene: XYLT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, 615777 (3)","entity_name":"XYLT1","entity_type":"gene"},{"created":"2020-04-19T21:06:06.148761+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XRCC4 was added\ngene: XRCC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive","entity_name":"XRCC4","entity_type":"gene"},{"created":"2020-04-19T21:06:05.249349+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XPNPEP3 was added\ngene: XPNPEP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, 613159 (3)","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2020-04-19T21:06:04.023882+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XPC was added\ngene: XPC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3)","entity_name":"XPC","entity_type":"gene"},{"created":"2020-04-19T21:06:03.024252+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XPA was added\ngene: XPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 (3)","entity_name":"XPA","entity_type":"gene"},{"created":"2020-04-19T21:06:02.037621+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XIAP was added\ngene: XIAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3)","entity_name":"XIAP","entity_type":"gene"},{"created":"2020-04-19T21:06:00.654949+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WWOX was added\ngene: WWOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WWOX were set to Epileptic encephalopathy, early infantile, 28, 616211 (3)","entity_name":"WWOX","entity_type":"gene"},{"created":"2020-04-19T21:05:59.627820+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WRN was added\ngene: WRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRN were set to Werner syndrome, 277700 (3)","entity_name":"WRN","entity_type":"gene"},{"created":"2020-04-19T21:05:58.249544+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WRAP53 was added\ngene: WRAP53 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988 (3)","entity_name":"WRAP53","entity_type":"gene"},{"created":"2020-04-19T21:05:57.341106+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT7A was added\ngene: WNT7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)","entity_name":"WNT7A","entity_type":"gene"},{"created":"2020-04-19T21:05:56.123059+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT10B was added\ngene: WNT10B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT10B were set to Split-hand/foot malformation 6, 225300 (3)","entity_name":"WNT10B","entity_type":"gene"},{"created":"2020-04-19T21:05:55.159554+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT1 was added\ngene: WNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, 615220 (3)","entity_name":"WNT1","entity_type":"gene"},{"created":"2020-04-19T21:05:53.927452+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNK1 was added\ngene: WNK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)","entity_name":"WNK1","entity_type":"gene"},{"created":"2020-04-19T21:05:52.946821+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WHRN was added\ngene: WHRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383 (3)","entity_name":"WHRN","entity_type":"gene"},{"created":"2020-04-19T21:05:52.044496+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WFS1 was added\ngene: WFS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WFS1 were set to Wolfram syndrome, 222300 (3)","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-04-19T21:05:50.744929+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR81 was added\ngene: WDR81 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-04-19T21:05:49.749611+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR73 was added\ngene: WDR73 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR73 were set to Galloway-Mowat syndrome, 251300 (3)","entity_name":"WDR73","entity_type":"gene"},{"created":"2020-04-19T21:05:48.341150+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR62 was added\ngene: WDR62 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)","entity_name":"WDR62","entity_type":"gene"},{"created":"2020-04-19T21:05:47.325806+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR60 was added\ngene: WDR60 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)","entity_name":"WDR60","entity_type":"gene"}]}