{"count":221413,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1817","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1815","results":[{"created":"2020-04-29T14:21:35.734906+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agree, appears a rare manifestation of this syndrome.","entity_name":"FOXP1","entity_type":"gene"},{"created":"2020-04-29T14:21:35.690288+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxp1 has been classified as Red List (Low Evidence).","entity_name":"FOXP1","entity_type":"gene"},{"created":"2020-04-29T14:21:17.474725+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXP1 as Red List (low evidence)","entity_name":"FOXP1","entity_type":"gene"},{"created":"2020-04-29T14:21:17.461200+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxp1 has been classified as Red List (Low Evidence).","entity_name":"FOXP1","entity_type":"gene"},{"created":"2020-04-29T14:15:29.581475+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy","panel_id":179,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-29T14:14:44.186217+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.3","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: The majority of the variants reported are PTCs that lead to truncation or NMD (PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).; to: The majority of the variants reported are PTCs that lead to truncation or NMD, only a few missense have been reported (ClinVar; PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).","entity_name":"TCOF1","entity_type":"gene"},{"created":"2020-04-29T14:13:15.822102+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.3","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: The majority of the variants reported are PTCs that lead to truncation or NMD (PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).; to: The majority of the variants reported are PTCs that lead to truncation or NMD (PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).","entity_name":"TCOF1","entity_type":"gene"},{"created":"2020-04-29T14:12:27.039785+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.3","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444270, 15150774, 21951868; Phenotypes: Treacher Collins syndrome 1 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TCOF1","entity_type":"gene"},{"created":"2020-04-29T13:30:51.780104+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Crystle Lee","item_type":"entity","text":"gene: MACF1 was added\ngene: MACF1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MACF1 were set to 30471716\nPhenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation (MIM#618325)\nMode of pathogenicity for gene: MACF1 was set to Other\nReview for gene: MACF1 was set to GREEN\nAdded comment: Pontine/Vermis hypoplasia reported in multiple patients with de novo missense variants within the GAR domain\r\n\r\nPMID: 30471716; Dobyns 2018: Reported 3 different missense in 7 patients. All reported with brainsteam/cerebellum hypoplasia (Pontine hypoplasia/ Vermis hypoplasia). Postulated to exert Gain of function or dominant negative mechanism \r\n\r\nGreen in PanelApp UK list \nSources: Expert Review","entity_name":"MACF1","entity_type":"gene"},{"created":"2020-04-29T13:13:33.072786+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Elena Savva","item_type":"entity","text":"gene: LARGE1 was added\ngene: LARGE1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list\nMode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARGE1 were set to PMID: 17878207; 19067344; PMID: 24709677\nPhenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6\t613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6\t608840; Walker Warburg syndrome\nAdded comment: Gross deletions and rearrangements are commonly reported for this gene (PMID: 24709677)\r\n\r\nPMID: 17878207 - single reported patient with WWS had cerebellar hypoplasia, died in infancy. Patient had a heterozygous PTC.\r\n\r\nPMID: 19067344 - 2 chet patients (missense/PTC) had congenital muscular dystrophy. Patients were both reported with hypoplastic pontine abnormality, one also had a dysplastic vermis. A third patient is reported but this is the same as ^.\r\n\r\nPMID: 24709677 - 4 patients. \r\n1/4 mild pontine hyoplasia and inferior vermis hypoplasia, 1/4 very small pons, hypoplastic brainstem and cerebellar cysts, 1/4 small pons, 1/4 hypoplastic pons. \r\n3/4 were diagnosed with WWS, 1/4 with Fukuyama Congenital Muscular Dystrophy \nSources: Expert list","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-04-29T13:10:14.955662+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Crystle Lee","item_type":"entity","text":"gene: POMGNT1 was added\ngene: POMGNT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMGNT1 were set to 19067344\nPhenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (MIM#253280)\nReview for gene: POMGNT1 was set to GREEN\nAdded comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 (OMIM)\r\n\r\nPMID: 19067344; Clement 2008: Reported 7 patients, all showed either cerebellar or pontine hypoplasia and cerebellar cysts \nSources: Expert Review","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-04-29T12:22:00.803002+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Crystle Lee","item_type":"entity","text":"gene: POMGNT2 was added\ngene: POMGNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMGNT2 were set to 22958903; 27066570\nPhenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 (MIM#614830)\nReview for gene: POMGNT2 was set to GREEN\nAdded comment: POMGNT2 (also known as GTDC2). Associated phenotype also referred to as Walker-Warburg syndrome.\r\n\r\nPMID: 22958903; Manzini 2012: 3 different hom variants in 3 consang. families, all reported with cerebellar hypoplasia. (2 nonsense and 1 missense). \"knockdown in zebrafish showed all WWS features (hydrocephalus, ocular defects, and muscular dystrophy)\"\r\n\r\nPMID: 27066570; Endo 2015: reported 3 hom/chet missense with no cerebellar hypoplasia. Missense variants showed to reduced activity, which likely explains the milder phenotype. \r\n\r\nGreen in PanelApp UK list. \nSources: Expert Review","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2020-04-29T12:08:20.702146+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIAA1109","entity_type":"gene"},{"created":"2020-04-29T11:46:08.510623+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Elena Savva","item_type":"entity","text":"gene: ISPD was added\ngene: ISPD was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISPD were set to PMID: 22522421; 22522420\nPhenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7\t614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7\t616052; Walker–Warburg syndrome\nReview for gene: ISPD was set to GREEN\nAdded comment: PMID: 22522421 - 11 patients with severe WWS, only two survived beyond 2 years of age. \"Routine cerebral MRI\r\nshowed typical features of cobblestone lissencephaly together with hydrocephalus, cerebellar hypoplasia and a kinked brainstem\". \r\n10/11 patients either had chet mutations (missense, PTC) or homozygous PTCs/exon deletions, and diagnosed with either WSS or MEB. A single patient was homozygous for a missense. 10/11 reported specifically with \"cerebellar abnormalities\", no specific numbers for cerebellar hypoplasia.\r\n\r\nPMID: 22522420 - single patient with WWS, chet for exon deletions/PTC. MRI taken at 5 months of age shows hypoplastic brainstem and cerebellar vermis. \nSources: Expert list","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-04-29T11:26:52.658815+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29100095, 31353022; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPAA1","entity_type":"gene"},{"created":"2020-04-29T11:21:20.434031+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Crystle Lee","item_type":"entity","text":"gene: POMT1 was added\ngene: POMT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMT1 were set to 24491487; 31311558\nPhenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MIM#236670); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (MIM#613155)\nReview for gene: POMT1 was set to GREEN\nAdded comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (previously Walker-Warburg syndrome) and type B1 (OMIM)\r\n\r\nPMID: 24491487; Wallace 2015: Reports 3 patients and reviews variability of clinical outcomes associated with a single frameshift variant (ie h chet missense/fs associated with less severe phenotype). \r\n\r\nPMID: 31311558; Geis 2019: Multiple WWS families reported. Cerebellar hypoplasia is a consistent feature. \nSources: Expert Review","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-04-29T10:59:07.178817+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30257713, 30684953, 23768512; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-04-29T10:57:44.996856+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Elena Savva","item_type":"entity","text":"Deleted their review","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-04-29T10:56:57.911244+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Elena Savva","item_type":"entity","text":"gene: GMPPB was added\ngene: GMPPB was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list\nMode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GMPPB were set to PMID: 30257713; 30684953; 23768512\nPhenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14\t615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14\t615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14\t615352\nAdded comment: Decipher: Patient: 363842 is described with abnormality of the cerebellar vermis\r\n\r\nPMID: 30257713 - 3/6 patients with MRIs has mild cerebellar hypoplasia. Patients were all chet with mostly two missense in trans, or a missense/PTC. All patients with hypoplasia were diagnosed with congenital muscular dystrophy with cerebellar involvement (CRB). Age at examination unknown, patients range from 20 months - 74 years old).\r\n\r\nPMID: 30684953 - patient with Limb-girdle muscular dystrophy, MRI was normal. Patient had chet missense.\r\n\r\nPMID: 23768512 - 3/7 patients had cerebellar/pontine hypoplasia. Patients were diagnosed with MEB, muscle-eye-brain disease or CRB. \nSources: Expert list","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-04-29T10:55:34.998490+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Crystle Lee","item_type":"entity","text":"gene: POMT2 was added\ngene: POMT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMT2 were set to 15894594; 17634419\nPhenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 (MIM#613150); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 (MIM#613156)\nReview for gene: POMT2 was set to GREEN\nAdded comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy type A2 (previously Walker-Warburg syndrome) and B2 (OMIM). Severity of phenotype likely correlates with amount of residual activity. \r\n\r\nPMID: 15894594; van Reeuwijk 2005: Reported LoF type variants in 3 families. Cerebellar hypoplasia reported in 2 patients. \r\n\r\nPMID: 17634419; Yanagisawa 2007: Cerebellar vermis hypoplasis was a feature all 4 patients reported. (Hom missense and chet missense/nonsense) \nSources: Expert Review","entity_name":"POMT2","entity_type":"gene"},{"created":"2020-04-29T10:28:42.198870+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 29090079, 28735298; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"FOXP1","entity_type":"gene"},{"created":"2020-04-29T10:17:20.001970+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27264673, 28211982, 30236064; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2020-04-29T10:00:29.886818+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Elena Savva","item_type":"entity","text":"gene: FKTN was added\ngene: FKTN was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKTN were set to PMID: 17878207; 25821721; 19342235; 18177472; 12601708\nPhenotypes for gene: FKTN were set to Cardiomyopathy, dilated, 1X\t611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4\t253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4\t613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4\t611588; Walker-Warburg syndrome\nReview for gene: FKTN was set to AMBER\nAdded comment: PMID: 17878207 - 1/6 unrelated families had cerebellar hypoplasia, patient was homozygous for a PTC, had Walker-Warburg syndrome (WWS)\r\n\r\nPMID: 25821721 - 1 patient with muscular dystrophy, had a normal MRI and two chet missense.\r\n\r\nPMID: 19342235 - 2 siblings chet for two missense, do not report any cognitive issues. No MRI, were diagnosed with Limb-Girdle Muscular Dystrophy Without Mental Retardation\r\n\r\nPMID: 18177472 - Two patients with WWS, one died soon after birth and was chet for a missense and 3' UTR deletion. This patient only had an MRI showing severe brain malformation but no mention of cerebellar hypoplasia. The second patient was homozygous for a PTC.\r\n\r\nPMID: 12601708 - 1 patient with WWS and a homozygous PTC. Patient was an infant and tomography showed cortical atrophy\r\n\r\nSummary: Cerebellar hypoplasia may be a feature exclusive to severe WWS, which requires two null/near-null alleles. Need more reports to make it GREEN \nSources: Expert Review","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-04-29T09:37:22.030642+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2655","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EMX2 as ready","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-29T09:37:22.021736+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2655","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emx2 has been classified as Amber List (Moderate Evidence).","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-29T09:37:04.538833+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Crystle Lee","item_type":"entity","text":"gene: ROBO3 was added\ngene: ROBO3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ROBO3 were set to 15105459\nPhenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)\nReview for gene: ROBO3 was set to GREEN\nAdded comment: Pontine hypoplasia is a feature of the associated phenotype. \r\n\r\nPMID: 15105459; Jen 2004: Reported hom variants in 10 patients. \nSources: Expert Review","entity_name":"ROBO3","entity_type":"gene"},{"created":"2020-04-29T09:01:05.492766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2655","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EMX2 were changed from  to Schizencephaly, MIM# 269160","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-29T09:00:38.702549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2654","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EMX2 were set to ","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-29T09:00:11.354891+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2653","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-29T08:59:50.077271+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2652","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EMX2 as Amber List (moderate evidence)","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-29T08:59:50.064805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2652","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emx2 has been classified as Amber List (Moderate Evidence).","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-29T08:59:28.236398+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2651","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-29T08:46:22.119071+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Elena Savva","item_type":"entity","text":"gene: FKRP was added\ngene: FKRP was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKRP were set to PMID: 16476814; 21293871; 20236121\nPhenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5\t613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5\t606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5\t607155; Walker–Warburg syndrome\nReview for gene: FKRP was set to GREEN\nAdded comment: PMID: 16476814 - Pons/cerebellar hypoplasia reported in 3/13 patients with MRI results (aged 22 months - 11 years), additional 4/13 had cerebellar cysts. One patient had MED, the other WWS (Walker-Warburg syndrome)\r\nDescribes other papers where patients had vermis hypoplasia. \r\n\r\nPMID: 21293871 - 2/9 patients with MRI scan had cerebellar atrophy (aged 65, 69 years old), patients had limb-girdle muscular dystrophy 2I\r\n\r\nPMID: 20236121 - 2 homozygous siblings with Walker–Warburg syndrome. Postnatal MRI of one sibling shows cerbellar vermis and cortex hypoplasia\r\n\r\nSummary: Uncommon feature but reported in >3 patients, more commonly with Walker-Warburg syndrome patients \nSources: Expert Review","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-04-28T20:23:07.931617+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FIG4 as ready","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-04-28T20:23:07.920975+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fig4 has been classified as Amber List (Moderate Evidence).","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-04-28T20:23:03.878341+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FIG4 were changed from  to Polymicrogyria with epilepsy MIM# 612691","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-04-28T20:22:39.508874+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FIG4 were set to ","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-04-28T20:22:13.546907+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-04-28T20:21:47.452380+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FIG4 as Amber List (moderate evidence)","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-04-28T20:21:47.441251+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fig4 has been classified as Amber List (Moderate Evidence).","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-04-28T17:09:26.293085+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.53","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18758830, 24598713; Phenotypes: ? Polymicrogyria with epilepsy MIM# 612691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-04-28T16:58:32.208263+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EMX2 as ready","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-28T16:58:32.199024+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emx2 has been classified as Amber List (Moderate Evidence).","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-28T16:55:39.748504+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EMX2 were changed from  to Schizencephaly MIM# 269160","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-28T16:53:52.721226+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EMX2 were set to 8528262; 9359037; 9153481","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-28T16:53:13.145003+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EMX2 were set to ","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-28T16:51:17.634375+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-28T16:50:49.711013+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EMX2 as Amber List (moderate evidence)","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-28T16:50:49.697191+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emx2 has been classified as Amber List (Moderate Evidence).","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-28T16:50:14.911959+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: EMX2.","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-28T16:49:19.360497+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL3A1 as ready","entity_name":"COL3A1","entity_type":"gene"},{"created":"2020-04-28T16:49:19.345563+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col3a1 has been classified as Green List (High Evidence).","entity_name":"COL3A1","entity_type":"gene"},{"created":"2020-04-28T16:49:16.595715+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL3A1 were changed from  to Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MIM # 618343","entity_name":"COL3A1","entity_type":"gene"},{"created":"2020-04-28T16:48:40.367556+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL3A1 were set to ","entity_name":"COL3A1","entity_type":"gene"},{"created":"2020-04-28T16:48:09.165910+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL3A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL3A1","entity_type":"gene"},{"created":"2020-04-28T16:47:20.545187+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL18A1 as ready","entity_name":"COL18A1","entity_type":"gene"},{"created":"2020-04-28T16:47:20.532406+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col18a1 has been classified as Green List (High Evidence).","entity_name":"COL18A1","entity_type":"gene"},{"created":"2020-04-28T16:47:17.023530+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL18A1 were changed from  to Knobloch syndrome, type 1 MIM# 267750","entity_name":"COL18A1","entity_type":"gene"},{"created":"2020-04-28T16:46:43.673521+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL18A1 were set to ","entity_name":"COL18A1","entity_type":"gene"},{"created":"2020-04-28T16:46:13.980389+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL18A1","entity_type":"gene"},{"created":"2020-04-28T16:41:27.633567+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2605","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:40:54.950476+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2604","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATAD3A were set to 27640307; 32004445","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:40:27.636031+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2603","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ATAD3A was changed from  to Other","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:39:51.256018+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2602","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATAD3A: Added comment: Note mode of pathogenicity includes:\r\ni) bi-allelic missense and nonsense variants and bi-allelic deletions that create an ATAD3B/ATAD3A fusion gene under the lowly expressed ATAD3B promoter\r\nii) monoallelic dominant-negative missense variants (either de novo or inherited) and de novo monoallelic duplications creating a dominant negative ATAD3A/ATAD3C fusion gene; Changed publications: 27640307, 32004445, 28549128; Changed phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:38:31.749415+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATAD3A as ready","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:38:31.737293+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad3a has been classified as Green List (High Evidence).","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:38:27.988824+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATAD3A as Green List (high evidence)","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:38:27.979560+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad3a has been classified as Green List (High Evidence).","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:37:59.134900+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATAD3A was added\ngene: ATAD3A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nSV/CNV tags were added to gene: ATAD3A.\nMode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATAD3A were set to 28549128\nPhenotypes for gene: ATAD3A were set to Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810\nReview for gene: ATAD3A was set to GREEN\nAdded comment: Four unrelated families reported with deletions that generate chimeric ATAD3B/ATAD3A fusion genes and fatal congenital pontocerebellar hypoplasia. One family with genomic rearrangements affecting the ATAD3C/ATAD3B genes on one allele and ATAD3B/ATAD3A genes on the other displayed later-onset encephalopathy with cerebellar atrophy, ataxia and dystonia. \nSources: Expert Review","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:33:10.413002+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2651","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:32:52.212005+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2650","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATAD3A were set to 27640307; 32004445","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:32:30.094523+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2649","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATAD3A: Added comment: Mode of pathogenicity includes:\r\ni) bi-allelic missense and nonsense variants and bi-allelic deletions that create an ATAD3B/ATAD3A fusion gene under the lowly expressed ATAD3B promoter\r\nii) monoallelic dominant-negative missense variants (either de novo or inherited) and de novo monoallelic duplications creating a dominant negative ATAD3A/ATAD3C fusion gene; Changed publications: 27640307, 32004445, 28549128; Changed phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:30:29.400725+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:29:53.078229+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.441","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATAD3A were set to 27640307; 32004445","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:29:20.823929+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.440","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ATAD3A was changed from  to Other","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T16:20:01.386707+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.439","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"GDAP1","entity_type":"gene"},{"created":"2020-04-28T15:39:54.643343+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.439","user_name":"David Thorburn","item_type":"entity","text":"reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28549128; Phenotypes: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-28T13:01:56.384703+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2649","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTSA as ready","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-04-28T13:01:56.375161+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2649","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsa has been classified as Green List (High Evidence).","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-04-28T13:01:44.043915+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2649","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTSA were changed from  to Galactosialidosis, MIM# 256540; Cathepsin A-related arteriopathy with strokes and leukoencephalopathy","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-04-28T13:01:24.809660+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2648","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTSA were set to ","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-04-28T13:01:03.905815+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2647","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTSA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-04-28T13:00:40.722419+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2646","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-04-28T13:00:32.675910+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2646","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: CTSA: Mono-allelic variants cause arteriopathy with strokes and leukodystrophy.","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-04-28T12:23:57.560687+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.45","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8528262, 9359037, 9153481; Phenotypes: Schizencephaly MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EMX2","entity_type":"gene"},{"created":"2020-04-28T11:51:19.185141+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.2","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28742248, 19455184, 25205403; Phenotypes: Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL3A1","entity_type":"gene"},{"created":"2020-04-28T11:39:25.741185+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.45","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25456301, 19160445, 17546652; Phenotypes: Knobloch syndrome, type 1 MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL18A1","entity_type":"gene"},{"created":"2020-04-27T22:32:33.805487+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMPD2 as ready","entity_name":"AMPD2","entity_type":"gene"},{"created":"2020-04-27T22:32:33.792991+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ampd2 has been classified as Green List (High Evidence).","entity_name":"AMPD2","entity_type":"gene"},{"created":"2020-04-27T22:32:30.617132+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMPD2 were changed from  to Pontocerebellar hypoplasia, type 9, MIM# 615809","entity_name":"AMPD2","entity_type":"gene"},{"created":"2020-04-27T22:32:00.699956+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMPD2 were set to ","entity_name":"AMPD2","entity_type":"gene"},{"created":"2020-04-27T22:31:30.984033+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMPD2","entity_type":"gene"},{"created":"2020-04-27T22:31:00.780385+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: AMPD2: At least six families reported.","entity_name":"AMPD2","entity_type":"gene"},{"created":"2020-04-27T22:30:37.803135+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23911318, 27066553; Phenotypes: Pontocerebellar hypoplasia, type 9, MIM# 615809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMPD2","entity_type":"gene"},{"created":"2020-04-27T22:26:02.003180+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2646","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MN1 were changed from Intellectual disability; dysmophic features; rhombencephalosynapsis to CEBALID syndrome, MIM#618774; Intellectual disability; dysmophic features; rhombencephalosynapsis","entity_name":"MN1","entity_type":"gene"},{"created":"2020-04-27T22:25:32.577641+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2645","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MN1: Changed phenotypes: CEBALID syndrome, MIM#618774, Intellectual disability, dysmophic features, rhombencephalosynapsis","entity_name":"MN1","entity_type":"gene"},{"created":"2020-04-27T22:24:53.744162+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2602","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MN1 were changed from Intellectual disability; dysmophic features; rhombencephalosynapsis to CEBALID syndrome, MIM#618774; Intellectual disability; dysmophic features; rhombencephalosynapsis","entity_name":"MN1","entity_type":"gene"},{"created":"2020-04-27T22:24:26.267968+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2601","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MN1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MN1","entity_type":"gene"},{"created":"2020-04-27T22:23:50.542856+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2600","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MN1","entity_type":"gene"},{"created":"2020-04-27T22:22:26.957435+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTF1A as ready","entity_name":"PTF1A","entity_type":"gene"}]}