{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=603","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=601","results":[{"created":"2023-05-15T18:02:00.357180+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-15T18:01:38.639127+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.879","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAF1 were changed from Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-15T18:01:16.768181+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.878","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-15T18:00:56.115647+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAF1 were changed from Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-15T18:00:19.561277+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-15T16:56:34.426250+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.146","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RYR1 as Green List (high evidence)","entity_name":"RYR1","entity_type":"gene"},{"created":"2023-05-15T16:56:34.414359+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.146","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ryr1 has been classified as Green List (High Evidence).","entity_name":"RYR1","entity_type":"gene"},{"created":"2023-05-15T16:55:56.322180+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: RYR1: Added comment: Congenital myopathy is reported in both dominant and recessive forms. Loss of function is the disease mechanism for recessive RYR1-related myopathy, whereas gain-of-function is typically the mechanism for dominant disease.; Changed publications: 22473935, 30611313, 8220422, 12112081; Changed phenotypes: RYR1-related myopathy MONDO:0100150; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"RYR1","entity_type":"gene"},{"created":"2023-05-15T12:55:06.357626+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.878","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 64, MIM#619188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZNF292","entity_type":"gene"},{"created":"2023-05-15T12:54:33.574143+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5228","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 64, MIM#619188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZNF292","entity_type":"gene"},{"created":"2023-05-14T14:40:50.284214+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.107","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESAM were changed from Neurodevelopmental disorder (MONDO#0700092), ESAM-related to Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-05-14T14:40:36.544874+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-05-14T14:40:15.361171+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5228","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESAM were changed from Neurodevelopmental disorder (MONDO#0700092), ESAM-related to Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-05-14T14:39:42.262403+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5227","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-05-14T14:39:22.834842+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1849","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESAM were changed from Neurodevelopmental disorder (MONDO#0700092), ESAM-related to Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-05-14T14:38:44.403966+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1848","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-05-14T14:38:19.628067+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.878","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESAM were changed from Neurodevelopmental disorder (MONDO#0700092), ESAM-related to Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-05-14T14:37:59.979627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.877","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-05-14T14:37:38.689435+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESAM were changed from Neurodevelopmental disorder (MONDO#0700092), ESAM-related to Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-05-14T14:37:02.582953+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-05-11T15:34:41.966430+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.56","user_name":"Yetong Chen","item_type":"entity","text":"gene: AHDC1 was added\ngene: AHDC1 was added to Craniosynostosis. Sources: Expert Review\nMode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AHDC1 were set to 27884935; 30858058; 30152016; 27148574; 33288889\nPhenotypes for gene: AHDC1 were set to Xia-Gibbs syndrome, MIM# 615829\nReview for gene: AHDC1 was set to GREEN\nAdded comment: More than 3 unrelated individuals are reported.\r\nPMID 27884935 scanned craniosynostosis patients and identified an AHDC1 variant (c.2373_2374delTG, p.C791fs*57) from a patient with craniosynostosis.\r\nPMID 30858058 reports a patient with a heterozygous AHDC1 variant (c.4370 A>G, p.Asp1457Gly) who had craniosynostosis.\r\nPMID 30152016 reports a patient (patient 1) with a heterozygous AHDC1 variant (c.2473C>T; p.Q825*) who had craniosynostosis.\r\nPMID 27148574 reports a patient (patient 3) with an AHDC1 variant (c.1881delG\r\np.Q627Hfs*105) who had sagittal craniosynostosis.\r\nPMID 33288889: Of 94 individuals with syndromic craniosynostosis, 2 individuals carried AHDC1 variants (c.3185_3186del p.(Thr1062Serfs*63) and c.2772del p.(Arg925Glufs*7), respectively). \nSources: Expert Review","entity_name":"AHDC1","entity_type":"gene"},{"created":"2023-05-11T15:04:10.517218+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZBTB20 as ready","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2023-05-11T15:04:10.505748+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb20 has been classified as Green List (High Evidence).","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2023-05-11T15:04:05.829717+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZBTB20 as Green List (high evidence)","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2023-05-11T15:04:05.816380+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb20 has been classified as Green List (High Evidence).","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2023-05-11T11:40:25.020999+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.89","user_name":"Yetong Chen","item_type":"entity","text":"gene: ZBTB20 was added\ngene: ZBTB20 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB20 were set to 32734340; 25017102\nPhenotypes for gene: ZBTB20 were set to Primrose syndrome, MIM# 259050\nReview for gene: ZBTB20 was set to GREEN\nAdded comment: PMID 32266967 reports 4 patients (1, 2, 22 and 24) with different ZBTB20 variants (p.Gln209Arg, p.Cys580Tyr, p.His624Pro, and p.Met625Val) who had brain calcifications.\r\nPMID reports 3 patients (11D5135, 12D6966 and PRS_02) with different ZBTB20 variants (p.T601I, p.G602A and p.V626M) who had intracranial calcification. \nSources: Expert list","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2023-05-11T11:04:17.483917+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.204","user_name":"Lucy Spencer","item_type":"entity","text":"gene: HPDL was added\ngene: HPDL was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 33188300\nPhenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (MIM#619026)\nReview for gene: HPDL was set to GREEN\nAdded comment: PMID: 33188300 cohort of infantile neurodegenerative condition, all have biallelic HPDL variants. 7 of 14 individuals have microcephaly, however its noted that head circumference was not remarkable at birth but smaller head circumference/microcephaly was seen by 5 years old. \nSources: Literature","entity_name":"HPDL","entity_type":"gene"},{"created":"2023-05-10T16:49:58.227935+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CHST14 as ready","entity_name":"CHST14","entity_type":"gene"},{"created":"2023-05-10T16:49:58.217558+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chst14 has been classified as Green List (High Evidence).","entity_name":"CHST14","entity_type":"gene"},{"created":"2023-05-10T16:49:52.285688+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHST14 as Green List (high evidence)","entity_name":"CHST14","entity_type":"gene"},{"created":"2023-05-10T16:49:52.278376+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chst14 has been classified as Green List (High Evidence).","entity_name":"CHST14","entity_type":"gene"},{"created":"2023-05-10T16:48:16.102881+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.144","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHST14 was added\ngene: CHST14 was added to Muscular dystrophy_Paediatric. Sources: Expert list\nMode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHST14 were set to 26373698; 20842734; 36833362\nPhenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776\nReview for gene: CHST14 was set to GREEN\ngene: CHST14 was marked as current diagnostic\nAdded comment: Well-established gene-disease association. MC-EDS represents a differential diagnosis within the congenital myopathy spectrum of disease. Myopathy also present in the null mouse model. \nSources: Expert list","entity_name":"CHST14","entity_type":"gene"},{"created":"2023-05-10T12:28:12.383947+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CACNA1S as ready","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-05-10T12:28:12.363865+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cacna1s has been classified as Green List (High Evidence).","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-05-10T12:27:42.425806+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CACNA1S as Green List (high evidence)","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-05-10T12:27:42.418169+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cacna1s has been classified as Green List (High Evidence).","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-05-10T12:27:04.362192+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.142","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CACNA1S was added\ngene: CACNA1S was added to Muscular dystrophy_Paediatric. Sources: Expert list\nMode of inheritance for gene: CACNA1S was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CACNA1S were set to 28012042; 31227654; 33060286\nPhenotypes for gene: CACNA1S were set to Congenital myopathy MONDO:0019952\nReview for gene: CACNA1S was set to GREEN\ngene: CACNA1S was marked as current diagnostic\nAdded comment: At least 5 families with biallelic variants and 3 families with monoallelic missense variants (mainly de novo) with congenital myopathy. A decrease in protein level and a major impairment of Ca2+ release induced by depolarization in cultured myotubes was identified in both the dominant and recessive families. Thus, loss of function is the mechanism of disease for CACNA1S-related congenital myopathy. \nSources: Expert list","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-05-10T10:26:04.293987+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.145","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: UNC45B was added\ngene: UNC45B was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other\nMode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC45B were set to 33217308; 31852522\nPhenotypes for gene: UNC45B were set to Myofibrillar myopathy 11 (MIM#619178)\nReview for gene: UNC45B was set to GREEN\nAdded comment: Onset is within the first decade of life typically indicated by slow progression of proximal muscle weakness. \r\n\r\nPMID: 33217308; 31852522\r\n11 individuals from 9 unrelated families with symptoms of progressive proximal muscle weakness. \r\n\r\nPMID: 31852522\r\nMuscle biopsy was conducted on one individual which showed myopathic changes with core-like structures \nSources: Other","entity_name":"UNC45B","entity_type":"gene"},{"created":"2023-05-10T10:11:46.458360+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.145","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: SVIL was added\ngene: SVIL was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other\nMode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SVIL were set to 32779703\nPhenotypes for gene: SVIL were set to Myofibrillar myopathy 10 (MIM#619040)\nReview for gene: SVIL was set to AMBER\nAdded comment: Onset is typically within the first or second decade of life while some individuals of onset in early childhood.\r\nTypical features at onset is muscle pain, cramping, and exercise fatigue. \r\n\r\nPMID: 32779703\r\n2 affected individuals from 2 unrelated consanguineous families with hypertrophic muscles and muscle rigidity \nSources: Other","entity_name":"SVIL","entity_type":"gene"},{"created":"2023-05-10T10:04:12.898644+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.877","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ARFGEF3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"ARFGEF3","entity_type":"gene"},{"created":"2023-05-10T09:55:29.911267+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CFL2 as ready","entity_name":"CFL2","entity_type":"gene"},{"created":"2023-05-10T09:55:29.899244+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cfl2 has been classified as Green List (High Evidence).","entity_name":"CFL2","entity_type":"gene"},{"created":"2023-05-10T09:55:23.780516+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CFL2 as Green List (high evidence)","entity_name":"CFL2","entity_type":"gene"},{"created":"2023-05-10T09:55:23.772064+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cfl2 has been classified as Green List (High Evidence).","entity_name":"CFL2","entity_type":"gene"},{"created":"2023-05-10T09:54:53.423487+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CFL2 were set to PMID: 17160903; 22560515","entity_name":"CFL2","entity_type":"gene"},{"created":"2023-05-10T09:53:25.734103+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CCDC78 as ready","entity_name":"CCDC78","entity_type":"gene"},{"created":"2023-05-10T09:53:25.716982+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccdc78 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC78","entity_type":"gene"},{"created":"2023-05-10T09:53:21.374144+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.145","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: MYL2 was added\ngene: MYL2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other\nMode of inheritance for gene: MYL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYL2 were set to 23365102; 9673982\nPhenotypes for gene: MYL2 were set to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424)\nReview for gene: MYL2 was set to GREEN\nAdded comment: Onset is in the first few weeks of life. \r\nTypical features include hypotrophy of skeletal and cardiac muscle\r\n\r\nPMID: 23365102; 9673982\r\n13 affected individuals from 6 unrelated family with progressive muscle weakness and cardiomyopathy \nSources: Other","entity_name":"MYL2","entity_type":"gene"},{"created":"2023-05-10T09:50:45.618410+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCDC78 as Amber List (moderate evidence)","entity_name":"CCDC78","entity_type":"gene"},{"created":"2023-05-10T09:50:45.608299+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccdc78 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC78","entity_type":"gene"},{"created":"2023-05-10T09:49:26.228422+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BIN1 as ready","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-05-10T09:49:26.217066+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bin1 has been classified as Green List (High Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-05-10T09:49:19.776039+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: BIN1 were set to 17676042; 29950440","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-05-10T09:45:34.118119+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BIN1 as Green List (high evidence)","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-05-10T09:45:34.113095+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: ClinGen Definititive for semidominant centronuclear myopathy by the Congenital myopathy GCEP - Classification - 27/04/2020","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-05-10T09:45:34.075836+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bin1 has been classified as Green List (High Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-05-10T09:42:38.566022+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.136","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ASCC3 as ready","entity_name":"ASCC3","entity_type":"gene"},{"created":"2023-05-10T09:42:38.556909+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.136","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ascc3 has been classified as Green List (High Evidence).","entity_name":"ASCC3","entity_type":"gene"},{"created":"2023-05-10T09:42:34.836343+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.136","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ASCC3 as Green List (high evidence)","entity_name":"ASCC3","entity_type":"gene"},{"created":"2023-05-10T09:42:34.826110+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.136","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ascc3 has been classified as Green List (High Evidence).","entity_name":"ASCC3","entity_type":"gene"},{"created":"2023-05-10T09:41:46.349077+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ASCC1 as ready","entity_name":"ASCC1","entity_type":"gene"},{"created":"2023-05-10T09:41:46.341121+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ascc1 has been classified as Green List (High Evidence).","entity_name":"ASCC1","entity_type":"gene"},{"created":"2023-05-10T09:41:38.688485+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ASCC1 as Green List (high evidence)","entity_name":"ASCC1","entity_type":"gene"},{"created":"2023-05-10T09:41:38.675274+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ascc1 has been classified as Green List (High Evidence).","entity_name":"ASCC1","entity_type":"gene"},{"created":"2023-05-10T09:38:45.724007+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DNAJB4 as ready","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-05-10T09:38:45.711838+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dnajb4 has been classified as Green List (High Evidence).","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-05-10T09:38:41.790726+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DNAJB4 as Green List (high evidence)","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-05-10T09:38:41.777659+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dnajb4 has been classified as Green List (High Evidence).","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-05-10T09:38:14.407281+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: DNAJB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 36264506; Phenotypes: Myopathy, MONDO:0005336, DNAJB4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-05-10T09:36:51.082640+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ADSSL1 as ready","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-05-10T09:36:51.073565+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: adssl1 has been classified as Green List (High Evidence).","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-05-10T09:36:38.683176+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ADSSL1 were changed from Myopathy Distal 5 (MONDO:0014877; MIM#617030) to Nemaline myopathy MONDO:0018958","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-05-10T09:35:48.001508+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ADSSL1 were set to 32646962","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-05-10T09:35:22.260943+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ADSSL1 were set to PMID: 3650622; 28268051; 32646962","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-05-10T09:34:57.506809+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ADSSL1 as Green List (high evidence)","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-05-10T09:34:57.496415+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: adssl1 has been classified as Green List (High Evidence).","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-05-10T09:34:24.610642+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32646962; Phenotypes: Nemaline myopathy MONDO:0018958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-05-10T09:30:28.424851+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ACTN2 as Green List (high evidence)","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-05-10T09:30:28.415623+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: actn2 has been classified as Green List (High Evidence).","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-05-10T08:50:05.191211+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ACTN2 as Green List (high evidence)","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-05-10T08:50:05.181302+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: actn2 has been classified as Green List (High Evidence).","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-05-10T08:50:03.120206+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.128","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ACTN2 as ready","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-05-10T08:50:02.933733+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.128","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: actn2 has been removed from the panel.","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-05-10T08:49:34.194861+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.128","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30701273; Phenotypes: Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-05-10T08:44:25.230654+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.145","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: KY was added\ngene: KY was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other\nMode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KY were set to 27484770; 27485408; 30591934; 11136708\nPhenotypes for gene: KY were set to Myopathy, myofibrillar, 7 (MIM#617114)\nReview for gene: KY was set to GREEN\nAdded comment: Onset is early childhood with slow progression of muscle weakness\r\n\r\nPMID: 27484770;  27485408; 30591934\r\n4 individuals from 3 unrelated consanguineous families with slowly progressive myopathy. \r\nMuscle biopsy showed myopathic changes (increased variability in fibre size) and all individuals had a homozygous mutation present in the KY gene.\r\n\r\nPMID: 11136708\r\nA mouse model showed myopathy degeneration in the presence of a mutation in KY. \r\nHistopathology on the mutant mouse confirmed the importance of KY protein in muscle growth and function. \nSources: Other","entity_name":"KY","entity_type":"gene"},{"created":"2023-05-09T16:47:22.581409+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.168","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: GFER was added\ngene: GFER was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other\nMode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GFER were set to 28155230; 19409522; 26018198\nPhenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076)\nReview for gene: GFER was set to GREEN\nAdded comment: Onset - at birth and/or during infancy\r\n\r\n8 individuals from 4 unrelated families with clinical symptoms of hypotonia and elevated plasma lactate levels. \nSources: Other","entity_name":"GFER","entity_type":"gene"},{"created":"2023-05-09T16:35:00.813064+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.168","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: FASTKD2 was added\ngene: FASTKD2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other\nMode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FASTKD2 were set to 31944455; 18771761\nPhenotypes for gene: FASTKD2 were set to Combined oxidative phosphorylation deficiency 44 (MIM#618855)\nReview for gene: FASTKD2 was set to GREEN\nAdded comment: - Onset in infancy or early childhood\r\n- Features typically include global developmental delay, hypotonia, and abnormal movements. \r\n\r\n5 individuals from 4 unrelated families with features of with hypotonia, increased serum lactate and phenotypes relating to hypertrophic cardiomyopathy\r\n\r\nPMID: 31944455\r\nFunctional study using HEK293 cells showed the depletion in FASTKD2 protein resulting in defective mitochondrial RNA translation. \nSources: Other","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2023-05-09T16:18:47.523980+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.168","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: AIFM1 was added\ngene: AIFM1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other\nMode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: AIFM1 were set to 20362274; 22019070; 26173962\nPhenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816); Encephalamyopathy, Mitochondrial, X-Linked\nReview for gene: AIFM1 was set to GREEN\nAdded comment: - Onset is in utero or in infancy\r\n- Affected individuals typically present with hypotonia, impaired psychomotoro development with decreased enzymatic activity, specifically in skeletal muscle or fibroblasts\r\n\r\n6 individuals from 3 unrelated families presented with hypotonia with muscle weakness and increased plasma lactate and a hemizygous mutation in AIFM1 causative of Combined oxidative phosphorylation deficiency 6 (COXPD6).\r\n\r\nPMID: 20362274\r\n2 individuals (first cousins) from one family with Hypotonia and hypo-areflexia and increased lactate in plasma and both individuals carried a hemizygous deletion\r\nIn vitro studies showed that in the presence of the deletion, the inner mitochondrial membrane is destabilised causing damage to the respiratory chain structure and activities.\r\n\r\nPMID: 22019070\r\n2 brothers (one deceased) with hyptonia and symptoms of hypertrophic cardiomyopathy (HCM) and complete cytochrome  C oxidase deficiency on a histochemistry staining. \r\n\r\nPMID: 26173962\r\n2 individuals from one family (cousins) with hemizyggous mutation in AIFM1\r\nBoth presented with hypotonia with muscle weakness and increased plasma lactate \r\nSegregation study showed unaffected mother was a carrier for the hemizygous mutation \nSources: Other","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-05-09T16:16:16.964866+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XPR1 were set to 25938945","entity_name":"XPR1","entity_type":"gene"},{"created":"2023-05-09T16:15:20.861408+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR45 as Amber List (moderate evidence)","entity_name":"WDR45","entity_type":"gene"},{"created":"2023-05-09T16:15:20.844051+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr45 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR45","entity_type":"gene"},{"created":"2023-05-09T16:14:20.673424+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VARS2 as ready","entity_name":"VARS2","entity_type":"gene"},{"created":"2023-05-09T16:14:20.662605+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vars2 has been classified as Red List (Low Evidence).","entity_name":"VARS2","entity_type":"gene"},{"created":"2023-05-09T16:14:15.354248+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VARS2 as Red List (low evidence)","entity_name":"VARS2","entity_type":"gene"},{"created":"2023-05-09T16:14:15.338934+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vars2 has been classified as Red List (Low Evidence).","entity_name":"VARS2","entity_type":"gene"},{"created":"2023-05-09T16:13:05.988765+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.86","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TYROBP were set to 30242731","entity_name":"TYROBP","entity_type":"gene"},{"created":"2023-05-09T16:12:15.048710+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSC2 were set to ","entity_name":"TSC2","entity_type":"gene"},{"created":"2023-05-09T16:11:55.173678+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCE as ready","entity_name":"TBCE","entity_type":"gene"},{"created":"2023-05-09T16:11:55.153752+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2023-05-09T16:11:21.219137+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBCE as Green List (high evidence)","entity_name":"TBCE","entity_type":"gene"}]}