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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1817",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}