{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1249","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1247","results":[{"created":"2021-08-07T12:42:12.026533+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4028","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAST3 was added\ngene: MAST3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST3 were set to 34185323\nPhenotypes for gene: MAST3 were set to Developmental and epileptic encephalopathy\nReview for gene: MAST3 was set to GREEN\nAdded comment: Eleven individuals reported with de novo missense variants in the STK domain, including two recurrent variants p.G510S (n = 5) and p.G515S (n = 3). All 11 individuals had developmental and epileptic encephalopathy, with 8 having normal development prior to seizure onset at <2 years of age. All patients developed multiple seizure types, 9 of 11 patients had seizures triggered by fever and 9 of 11 patients had drug-resistant seizures. Limited functional data. \nSources: Literature","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:40:38.281536+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8670","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAST3 as ready","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:40:38.271704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8670","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mast3 has been classified as Green List (High Evidence).","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:40:33.589850+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1161","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAST3 as ready","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:40:33.580756+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mast3 has been classified as Green List (High Evidence).","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:40:30.634048+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1161","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:40:25.307180+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8670","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAST3 as Green List (high evidence)","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:40:25.291897+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8670","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mast3 has been classified as Green List (High Evidence).","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:39:53.493687+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1160","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAST3 were changed from Epilepsy to Developmental and epileptic encephalopathy","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:39:52.204145+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8669","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAST3 was added\ngene: MAST3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST3 were set to 34185323\nPhenotypes for gene: MAST3 were set to Developmental and epileptic encephalopathy\nReview for gene: MAST3 was set to GREEN\nAdded comment: Eleven individuals reported with de novo missense variants in the STK domain, including two recurrent variants p.G510S (n = 5) and p.G515S (n = 3). All 11 individuals had developmental and epileptic encephalopathy, with 8 having normal development prior to seizure onset at <2 years of age. All patients developed multiple seizure types, 9 of 11 patients had seizures triggered by fever and 9 of 11 patients had drug-resistant seizures. Limited functional data. \nSources: Literature","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:38:34.374608+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1159","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAST3 as Green List (high evidence)","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:38:34.365146+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mast3 has been classified as Green List (High Evidence).","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:37:28.108466+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1158","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAST3 was added\ngene: MAST3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST3 were set to 34185323\nPhenotypes for gene: MAST3 were set to Epilepsy\nReview for gene: MAST3 was set to GREEN\nAdded comment: Eleven individuals reported with de novo missense variants in the STK domain, including two recurrent variants p.G510S (n = 5) and p.G515S (n = 3). All 11 individuals had developmental and epileptic encephalopathy, with 8 having normal development prior to seizure onset at <2 years of age. All patients developed multiple seizure types, 9 of 11 patients had seizures triggered by fever and 9 of 11 patients had drug-resistant seizures. Limited functional data. \nSources: Literature","entity_name":"MAST3","entity_type":"gene"},{"created":"2021-08-07T12:12:09.120510+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SF3B2 as ready","entity_name":"SF3B2","entity_type":"gene"},{"created":"2021-08-07T12:12:09.109556+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sf3b2 has been classified as Green List (High Evidence).","entity_name":"SF3B2","entity_type":"gene"},{"created":"2021-08-07T12:12:05.072390+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SF3B2 as Green List (high evidence)","entity_name":"SF3B2","entity_type":"gene"},{"created":"2021-08-07T12:12:05.062534+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sf3b2 has been classified as Green List (High Evidence).","entity_name":"SF3B2","entity_type":"gene"},{"created":"2021-08-07T12:11:36.998336+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SF3B2 was added\ngene: SF3B2 was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature\nMode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SF3B2 were set to 34344887\nPhenotypes for gene: SF3B2 were set to Craniofacial microsomia\nReview for gene: SF3B2 was set to GREEN\nAdded comment: Twenty individuals from seven families reported with de novo or transmitted haploinsufficient variants in SF3B2. Affected individuals had mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities.\r\n\r\nTargeted morpholino knockdown of SF3B2 in Xenopus resulted in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease.\r\n\r\nThe families were ascertained from a cohort and the authors suggest that haploinsufficient variants in SF3B2 are the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases. \nSources: Literature","entity_name":"SF3B2","entity_type":"gene"},{"created":"2021-08-07T12:10:04.702318+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8668","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SF3B2 as ready","entity_name":"SF3B2","entity_type":"gene"},{"created":"2021-08-07T12:10:04.693489+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8668","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sf3b2 has been classified as Green List (High Evidence).","entity_name":"SF3B2","entity_type":"gene"},{"created":"2021-08-07T12:09:52.088887+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8668","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SF3B2 as Green List (high evidence)","entity_name":"SF3B2","entity_type":"gene"},{"created":"2021-08-07T12:09:52.078982+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8668","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sf3b2 has been classified as Green List (High Evidence).","entity_name":"SF3B2","entity_type":"gene"},{"created":"2021-08-07T12:09:20.371778+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8667","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SF3B2 was added\ngene: SF3B2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SF3B2 were set to 34344887\nPhenotypes for gene: SF3B2 were set to Craniofacial microsomia\nReview for gene: SF3B2 was set to GREEN\nAdded comment: Twenty individuals from seven families reported with de novo or transmitted haploinsufficient variants in SF3B2. Affected individuals had mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities.\r\n\r\nTargeted morpholino knockdown of SF3B2 in Xenopus resulted in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease.\r\n\r\nThe families were ascertained from a cohort and the authors suggest that haploinsufficient variants in SF3B2 are the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases. \nSources: Literature","entity_name":"SF3B2","entity_type":"gene"},{"created":"2021-08-07T11:36:07.647860+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IMPG1 as ready","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:36:07.638074+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: impg1 has been classified as Amber List (Moderate Evidence).","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:36:04.405088+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IMPG1 as Amber List (moderate evidence)","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:36:04.394714+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: impg1 has been classified as Amber List (Moderate Evidence).","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:35:55.698121+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IMPG1 was added\ngene: IMPG1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: IMPG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IMPG1 were set to 32817297\nPhenotypes for gene: IMPG1 were set to Retinitis pigmentosa, MONDO:0019200\nReview for gene: IMPG1 was set to AMBER\nAdded comment: Variants in this gene are classically associated with macular dystrophy.\r\n\r\nHowever note recent paper by Olivier et al. 2021 (PMID: 32817297) who identified seven variants in IMPG1 (including five novel) in 11 families with VMD or retinitis pigmentosa (RP).\r\n\r\n4 families were diagnosed with autosomal dominant RP, 2 families had autosomal recessive RP, while 5 families developed VMD in association with heterozygous IMPG1 variants. Notably, inter- and intrafamilial phenotypic variation was evident with some individuals presenting RP while others had VMD, despite harbouring the same IMPG1 variant.\r\n\r\nKnockdown of Impg1 in medaka fish resulted in a phenotype consistent with that observed in human patients, including a decreased length of rod and cone photoreceptor outer segments. \nSources: Literature","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:31:38.239477+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IMPG1 as ready","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:31:38.229679+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: impg1 has been classified as Green List (High Evidence).","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:31:35.736432+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IMPG1 were changed from Macular dystrophy, vitelliform, 4 to Macular dystrophy, vitelliform, 4, OMIM:616151; Retinitis pigmentosa, MONDO:0019200","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:31:24.842506+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IMPG1 were set to ","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:31:11.058499+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IMPG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:30:56.152818+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993198, 28644393, 30589393, 30688845, 32817297; Phenotypes: Macular dystrophy, vitelliform, 4, OMIM:616151, Retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:28:48.454647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8666","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IMPG1 as ready","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:28:48.444874+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8666","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: impg1 has been classified as Green List (High Evidence).","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:28:41.045567+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8666","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IMPG1 were changed from  to Macular dystrophy, vitelliform, 4, OMIM:616151; Retinitis pigmentosa, MONDO:0019200","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:28:21.114381+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8665","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IMPG1 were set to ","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T11:27:59.047857+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8664","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IMPG1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-07T01:20:42.581169+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8663","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993198, 28644393, 30589393, 30688845, 32817297; Phenotypes: Macular dystrophy, vitelliform, 4, OMIM:616151, Retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IMPG1","entity_type":"gene"},{"created":"2021-08-06T20:21:22.819823+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SPRED1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-06T20:18:17.508381+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XRCC4 as ready","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-08-06T20:18:17.499424+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xrcc4 has been classified as Green List (High Evidence).","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-08-06T20:18:15.613446+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, MIM# 616541; MONDO:0014686","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-08-06T20:18:04.099598+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XRCC4 were set to 25728776","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-08-06T20:17:52.738125+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: XRCC4 as Green List (high evidence)","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-08-06T20:17:52.725761+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xrcc4 has been classified as Green List (High Evidence).","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-08-06T20:17:44.322375+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Growth failure is an early and prominent feature.","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-08-06T18:05:45.328945+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RIT1 as ready","entity_name":"RIT1","entity_type":"gene"},{"created":"2021-08-06T18:05:45.318401+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rit1 has been classified as Green List (High Evidence).","entity_name":"RIT1","entity_type":"gene"},{"created":"2021-08-06T18:05:43.057328+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RIT1 were changed from Rasopathy; Noonan syndrome type 8; Noonan syndrome 8 to Noonan syndrome 8, MIM# 615355","entity_name":"RIT1","entity_type":"gene"},{"created":"2021-08-06T18:05:29.378103+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RIT1 were set to 24939608; 25124994; 23791108","entity_name":"RIT1","entity_type":"gene"},{"created":"2021-08-06T18:04:57.726316+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAF1 as ready","entity_name":"RAF1","entity_type":"gene"},{"created":"2021-08-06T18:04:57.716901+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: raf1 has been classified as Green List (High Evidence).","entity_name":"RAF1","entity_type":"gene"},{"created":"2021-08-06T18:04:54.745131+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAF1 were changed from Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome to Noonan syndrome 5, MIM# 611553","entity_name":"RAF1","entity_type":"gene"},{"created":"2021-08-06T18:04:45.762787+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAF1 were set to 17603483; 17603482","entity_name":"RAF1","entity_type":"gene"},{"created":"2021-08-06T18:04:30.237916+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Over 20 affected individuals reported.; to: Over 20 affected individuals reported. Short stature is a key feature.","entity_name":"RAF1","entity_type":"gene"},{"created":"2021-08-06T18:04:04.645593+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN11 as ready","entity_name":"PTPN11","entity_type":"gene"},{"created":"2021-08-06T18:04:04.636394+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn11 has been classified as Green List (High Evidence).","entity_name":"PTPN11","entity_type":"gene"},{"created":"2021-08-06T18:04:02.320585+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPN11 were changed from Noonan syndrome; LEOPARD syndrome 1; Noonan syndrome 1; LEOPARD syndrome to LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Noonan syndrome 1, MIM#163950","entity_name":"PTPN11","entity_type":"gene"},{"created":"2021-08-06T18:03:26.548510+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: PTPN11 was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"PTPN11","entity_type":"gene"},{"created":"2021-08-06T17:57:26.846416+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZPR1 as ready","entity_name":"ZPR1","entity_type":"gene"},{"created":"2021-08-06T17:57:26.835077+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zpr1 has been classified as Red List (Low Evidence).","entity_name":"ZPR1","entity_type":"gene"},{"created":"2021-08-06T17:57:24.794705+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZPR1 were changed from ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 to Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321","entity_name":"ZPR1","entity_type":"gene"},{"created":"2021-08-06T17:57:10.842389+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: ZPR1.","entity_name":"ZPR1","entity_type":"gene"},{"created":"2021-08-06T17:57:01.142647+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZPR1: Rating: RED; Mode of pathogenicity: None; Publications: 29851065; Phenotypes: Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZPR1","entity_type":"gene"},{"created":"2021-08-06T17:54:42.263211+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1CB as ready","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2021-08-06T17:54:42.253414+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1cb has been classified as Green List (High Evidence).","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2021-08-06T17:54:38.877918+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP1CB were changed from Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair to Noonan syndrome-like disorder with loose anagen hair 2; OMIM # 617506","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2021-08-06T17:54:24.358817+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPP1CB were set to 27264673; 27681385; 28211982","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2021-08-06T17:54:02.368321+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PPP1CB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2021-08-06T17:53:23.332638+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PALB2 as ready","entity_name":"PALB2","entity_type":"gene"},{"created":"2021-08-06T17:53:23.322169+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: palb2 has been classified as Green List (High Evidence).","entity_name":"PALB2","entity_type":"gene"},{"created":"2021-08-06T17:53:20.406993+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PALB2 were changed from Fanconi anemia, complementation group N, 610832; 610832 Fanconi anemia, complementation group N to Fanconi anaemia, complementation group N, MIM# 610832","entity_name":"PALB2","entity_type":"gene"},{"created":"2021-08-06T17:53:06.465478+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Established gene-disease association.; to: Established gene-disease association. Short stature is a key feature of FA.","entity_name":"PALB2","entity_type":"gene"},{"created":"2021-08-06T17:52:27.690085+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NRAS as ready","entity_name":"NRAS","entity_type":"gene"},{"created":"2021-08-06T17:52:27.675202+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nras has been classified as Green List (High Evidence).","entity_name":"NRAS","entity_type":"gene"},{"created":"2021-08-06T17:52:25.223380+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NRAS were changed from Cardio-Facio-cutanenous syndrome; A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.); Noonan syndrome; CFC Syndrome; Noonan syndrome 6 to Noonan syndrome 6, MIM# 613224","entity_name":"NRAS","entity_type":"gene"},{"created":"2021-08-06T17:52:12.376102+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NRAS were set to 19966803; 19775298","entity_name":"NRAS","entity_type":"gene"},{"created":"2021-08-06T17:51:56.791073+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Over 20 affected individuals reported, well established gene-disease association.; to: Over 20 affected individuals reported, well established gene-disease association. Short stature is a key feature.","entity_name":"NRAS","entity_type":"gene"},{"created":"2021-08-06T17:51:29.675083+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NBN as ready","entity_name":"NBN","entity_type":"gene"},{"created":"2021-08-06T17:51:29.664369+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nbn has been classified as Green List (High Evidence).","entity_name":"NBN","entity_type":"gene"},{"created":"2021-08-06T17:51:25.057261+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NBN were changed from Nijmegen; Nijmegen breakage syndrome, 251260 to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623","entity_name":"NBN","entity_type":"gene"},{"created":"2021-08-06T17:51:15.226092+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NBN were set to ","entity_name":"NBN","entity_type":"gene"},{"created":"2021-08-06T17:40:58.801365+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP2K2 as ready","entity_name":"MAP2K2","entity_type":"gene"},{"created":"2021-08-06T17:40:58.792024+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map2k2 has been classified as Green List (High Evidence).","entity_name":"MAP2K2","entity_type":"gene"},{"created":"2021-08-06T17:40:56.031032+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAP2K2 were changed from CFC syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; Cardio-Facio-Cutaneous syndrome type 4 to Cardiofaciocutaneous syndrome 4, MIM# 615280","entity_name":"MAP2K2","entity_type":"gene"},{"created":"2021-08-06T17:40:44.030660+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAP2K2 were set to 16439621; 21396583; 23379592","entity_name":"MAP2K2","entity_type":"gene"},{"created":"2021-08-06T17:39:59.831690+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP2K1 as ready","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2021-08-06T17:39:59.821433+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map2k1 has been classified as Green List (High Evidence).","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2021-08-06T17:39:57.791626+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAP2K1 were changed from Cardiofaciocutaneous syndrome 3; CFC syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-Facio-Cutaneous syndrome; LEOPARD syndrome to Cardiofaciocutaneous syndrome 3, MIM# 615279","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2021-08-06T17:39:46.722672+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAP2K1 were set to 23321623; 16439621; 21396583; 16825433","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2021-08-06T17:38:57.818642+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LZTR1 as ready","entity_name":"LZTR1","entity_type":"gene"},{"created":"2021-08-06T17:38:57.808422+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lztr1 has been classified as Green List (High Evidence).","entity_name":"LZTR1","entity_type":"gene"},{"created":"2021-08-06T17:38:55.092881+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LZTR1 were changed from increased nuchal translucency; Prenatal hydrops; cardiac findings; Noonan syndrome 10 to Noonan syndrome 10; Noonan syndrome 2","entity_name":"LZTR1","entity_type":"gene"},{"created":"2021-08-06T17:38:36.349578+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LZTR1 were set to 29469822; 25795793","entity_name":"LZTR1","entity_type":"gene"},{"created":"2021-08-06T17:37:56.223430+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRAS as ready","entity_name":"KRAS","entity_type":"gene"},{"created":"2021-08-06T17:37:56.213360+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kras has been classified as Green List (High Evidence).","entity_name":"KRAS","entity_type":"gene"},{"created":"2021-08-06T17:37:53.889874+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRAS were changed from Noonan syndrome 3; CFC syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Noonan syndrome; Rasopathy; Cardio-Facio-Cutaneous syndrome to Noonan syndrome 3, MIM# 609942; Cardiofaciocutaneous syndrome 2, MIM# 615278","entity_name":"KRAS","entity_type":"gene"},{"created":"2021-08-06T17:37:40.314200+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRAS were set to 21396583","entity_name":"KRAS","entity_type":"gene"}]}