{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=332","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=330","results":[{"created":"2024-12-08T11:06:57.705356+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CMPK2 as ready","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:06:57.691610+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cmpk2 has been classified as Amber List (Moderate Evidence).","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:06:50.927347+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CMPK2 as Amber List (moderate evidence)","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:06:50.913271+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cmpk2 has been classified as Amber List (Moderate Evidence).","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:05:55.126270+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CMPK2 was added\ngene: CMPK2 was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: CMPK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CMPK2 were set to 36443312\nPhenotypes for gene: CMPK2 were set to bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related\nReview for gene: CMPK2 was set to AMBER\nAdded comment: Three individuals from two unrelated families reported. One family (two sibs) with homozygous start loss variant, and the other family with compound het variants. Adult-onset neurodegenerative disorder. Extensive functional data including mouse model. Evidence of underlying mitochondrial dysfunction. \nSources: Literature","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:04:24.289668+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.958","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CMPK2 as Amber List (moderate evidence)","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:04:24.259416+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cmpk2 has been classified as Amber List (Moderate Evidence).","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:04:20.190299+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.958","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CMPK2 as ready","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:04:20.175098+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cmpk2 has been classified as Amber List (Moderate Evidence).","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:03:43.723941+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.958","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CMPK2 as Amber List (moderate evidence)","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:03:43.702124+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cmpk2 has been classified as Amber List (Moderate Evidence).","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T11:02:34.424336+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.957","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CMPK2 was added\ngene: CMPK2 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: CMPK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CMPK2 were set to 36443312\nPhenotypes for gene: CMPK2 were set to bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related\nReview for gene: CMPK2 was set to AMBER\nAdded comment: Three individuals from two unrelated families reported. One family (two sibs) with homozygous start loss variant, and the other family with compound het variants. Adult-onset neurodegenerative disorder. Extensive functional data including mouse model. Evidence of underlying mitochondrial dysfunction. \nSources: Literature","entity_name":"CMPK2","entity_type":"gene"},{"created":"2024-12-08T10:55:16.236421+11:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAP3K3 were changed from Verrucous venous malformation; Cerebral malformation, MONDO:0016054, MAP3K3-related to Verrucous venous malformation; Cerebral cavernous malformations 5, MIM# 621032","entity_name":"MAP3K3","entity_type":"gene"},{"created":"2024-12-08T10:54:58.746201+11:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations 5, MIM# 621032; Mode of inheritance: None","entity_name":"MAP3K3","entity_type":"gene"},{"created":"2024-12-08T10:54:34.256606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAP3K3 were changed from Cerebral malformation, MONDO:0016054, MAP3K3-related to Cerebral cavernous malformations 5, MIM# 621032","entity_name":"MAP3K3","entity_type":"gene"},{"created":"2024-12-08T10:54:11.064928+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2180","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAP3K3: Changed phenotypes: Cerebral cavernous malformations 5, MIM# 621032","entity_name":"MAP3K3","entity_type":"gene"},{"created":"2024-12-07T17:38:23.205403+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POLA2 as ready","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T17:38:23.196742+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pola2 has been classified as Green List (High Evidence).","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T17:37:02.100023+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POLA2 as Green List (high evidence)","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T17:37:02.082527+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pola2 has been classified as Green List (High Evidence).","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T17:35:52.880584+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.83","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POLA2 was added\ngene: POLA2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLA2 were set to 39616267\nPhenotypes for gene: POLA2 were set to Telomere biology syndrome MONDO:0100137\nReview for gene: POLA2 was set to GREEN\nAdded comment: Pulmonary fibrosis is a feature of the phenotype in 4 cases from 2 unrelated families with biallelic variants with functional evidence supporting an effect on telomere length. Pulmonary fibrosis is a common feature of telomere biology disorders. \nSources: Literature","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T17:32:58.617383+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.218","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POLA2 as ready","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T17:32:58.605568+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.218","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pola2 has been classified as Green List (High Evidence).","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T17:32:51.713589+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.218","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POLA2 as Green List (high evidence)","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T17:32:51.698289+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.218","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pola2 has been classified as Green List (High Evidence).","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T17:32:43.328781+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.217","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POLA2 was added\ngene: POLA2 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLA2 were set to 39616267\nPhenotypes for gene: POLA2 were set to Telomere biology syndrome MONDO:0100137\nReview for gene: POLA2 was set to GREEN\nAdded comment: Retinal telangiectasias/exudates (Coats disease) is a feature of the phenotype. 5 cases from 2 unrelated families with biallelic variants with functional evidence supporting an effect on telomere length. \nSources: Literature","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T15:45:27.112526+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2180","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: POLA2 were changed from Telomere biology disorders; Coats plus syndrome MONDO:0012815 to Telomere biology syndrome MONDO:0100137","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T15:44:26.446934+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.108","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: POLA2 were changed from Telomere biology disorders; Coats plus syndrome MONDO:0012815 to Telomere biology syndrome MONDO:0100137","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T15:06:02.497936+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.107","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POLA2 as ready","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T15:06:02.471896+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.107","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pola2 has been classified as Green List (High Evidence).","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T15:04:47.149535+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.107","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POLA2 as Green List (high evidence)","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T15:04:47.120392+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.107","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pola2 has been classified as Green List (High Evidence).","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T15:00:49.649780+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2179","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POLA2 as ready","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T15:00:49.636585+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2179","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pola2 has been classified as Green List (High Evidence).","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T14:58:29.089386+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2179","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POLA2 as Green List (high evidence)","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T14:58:29.073875+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2179","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pola2 has been classified as Green List (High Evidence).","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-07T14:04:49.299191+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.296","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CTGF as ready","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T14:04:49.285920+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.296","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ctgf has been classified as Amber List (Moderate Evidence).","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T14:04:40.456754+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.296","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: CTGF were changed from Kyphomelic dysplasia to Kyphomelic dysplasia MONDO:0008881; Spondyloepimetaphyseal dysplasia MONDO:0100510","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:47:08.388934+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.295","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CTGF as Amber List (moderate evidence)","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:47:08.373721+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.295","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ctgf has been classified as Amber List (Moderate Evidence).","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:46:30.341262+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.294","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CTGF: Rating: RED; Mode of pathogenicity: None; Publications: 39414788, 20534727; Phenotypes: Spondyloepimetaphyseal dysplasia MONDO:0100510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:45:07.328553+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2178","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CTGF as ready","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:45:07.306479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2178","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ctgf has been classified as Amber List (Moderate Evidence).","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:44:49.054350+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2178","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: CTGF were changed from Kyphomelic dysplasia to Kyphomelic dysplasia MONDO:0008881; Spondyloepimetaphyseal dysplasia MONDO:0100510","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:44:11.693412+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2177","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CTGF were set to 39506047","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:43:35.644548+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2176","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CTGF as Amber List (moderate evidence)","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:43:35.630785+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2176","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ctgf has been classified as Amber List (Moderate Evidence).","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:43:03.901188+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2175","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: CTGF: Changed publications: 39414788, 20534727","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:42:35.230223+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2175","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: CTGF: Changed publications: 39414788, 39414788","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:41:54.196762+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2175","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CTGF: Rating: RED; Mode of pathogenicity: None; Publications: 39414788; Phenotypes: Spondyloepimetaphyseal dysplasia MONDO:0100510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:28:50.839689+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.225","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CTGF as ready","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:28:50.828680+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.225","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ctgf has been classified as Amber List (Moderate Evidence).","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:28:42.437084+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.225","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: CTGF were changed from Kyphomelic dysplasia to Kyphomelic dysplasia MONDO:0008881","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:28:08.018395+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.224","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CTGF as Amber List (moderate evidence)","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:28:07.997933+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.224","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ctgf has been classified as Amber List (Moderate Evidence).","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-07T13:15:02.246617+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.112","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GUK1 as ready","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T13:15:02.213466+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.112","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Amber List (Moderate Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T13:13:51.763656+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.112","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GUK1 as Amber List (moderate evidence)","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T13:13:51.750579+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.112","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Amber List (Moderate Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T13:12:10.584594+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.111","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GUK1 was added\ngene: GUK1 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GUK1 were set to 39230499\nPhenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related\nReview for gene: GUK1 was set to AMBER\nAdded comment: Three cases from 2 unrelated families with biallelic variants leading to GUK1 deficiency had altered T-lymphocyte profiles, along with ptosis, ophthalmoparesis, myopathic proximal limb weakness, and variable hepatopathy. One additional case in this study had a normal lymphocyte profile. \nSources: Literature","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T13:05:44.647168+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.956","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GUK1 as ready","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T13:05:44.630780+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.956","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Green List (High Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T13:03:32.692784+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.956","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GUK1 as Green List (high evidence)","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T13:03:32.656813+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.956","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Green List (High Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T13:02:37.476061+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.956","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GUK1 as Green List (high evidence)","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T13:02:37.448321+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.956","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Green List (High Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:59:46.007551+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.955","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GUK1 was added\ngene: GUK1 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GUK1 were set to 39230499\nPhenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related\nReview for gene: GUK1 was set to GREEN\nAdded comment: 4 adult cases from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Cases presented with ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Initial manifestations in childhood or adolescence and developed ptosis and skeletal myopathy. mtDNA depletion/deletions are present in muscle biopsies of reduced activities of mitochondrial respiratory chain enzymes in all 4 cases. \nSources: Literature","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:56:19.962167+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GUK1 as ready","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:56:19.949751+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Green List (High Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:56:04.944703+11:00","panel_name":"Nucleotide metabolism disorders","panel_id":4294,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GUK1 as ready","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:56:04.932796+11:00","panel_name":"Nucleotide metabolism disorders","panel_id":4294,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Green List (High Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:56:00.366802+11:00","panel_name":"Nucleotide metabolism disorders","panel_id":4294,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GUK1 as Green List (high evidence)","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:56:00.351929+11:00","panel_name":"Nucleotide metabolism disorders","panel_id":4294,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Green List (High Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:55:49.253565+11:00","panel_name":"Nucleotide metabolism disorders","panel_id":4294,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GUK1 was added\ngene: GUK1 was added to Nucleotide metabolism disorders. Sources: Literature\nMode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GUK1 were set to 39230499\nPhenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related\nReview for gene: GUK1 was set to GREEN\nAdded comment: Guanylate kinase, encoded by GUK1, is a nucleotide monophosphate kinase. 4 adult cases from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Cases presented with ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Initial manifestations in childhood or adolescence and developed ptosis and skeletal myopathy. mtDNA depletion/deletions are present in muscle biopsies of reduced activities of mitochondrial respiratory chain enzymes in all 4 cases. \nSources: Literature","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:54:15.569710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2175","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158 to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:52:50.451154+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GUK1 as Green List (high evidence)","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:52:50.436790+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Green List (High Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:50:10.716893+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GUK1 was added\ngene: GUK1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature\nMode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GUK1 were set to 39230499\nPhenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related\nReview for gene: GUK1 was set to GREEN\nAdded comment: 4 adult cases from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Cases presented with ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Initial manifestations in childhood or adolescence and developed ptosis and skeletal myopathy. mtDNA depletion/deletions are present in muscle biopsies of reduced activities of mitochondrial respiratory chain enzymes in all 4 cases. The condition presents with a mitochondrial myopathy. \nSources: Literature","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:47:30.077167+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2174","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GUK1 as ready","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:47:30.055554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2174","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Green List (High Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:47:21.632241+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2174","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GUK1 as Green List (high evidence)","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:47:21.622372+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2174","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: guk1 has been classified as Green List (High Evidence).","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T12:46:57.862649+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2173","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GUK1 was added\ngene: GUK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GUK1 were set to 39230499\nPhenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158\nReview for gene: GUK1 was set to GREEN\nAdded comment: 4 adult cases from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Cases presented with ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Initial manifestations in childhood or adolescence and developed ptosis and skeletal myopathy. mtDNA depletion/deletions are present in muscle biopsies of reduced activities of mitochondrial respiratory chain enzymes in all 4 cases. \nSources: Literature","entity_name":"GUK1","entity_type":"gene"},{"created":"2024-12-07T11:43:40.579204+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2172","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PPP2R2B were changed from  to Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:43:04.333963+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.9","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PPP2R2B as ready","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:43:04.314644+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:43:03.918137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2171","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PPP2R2B were set to ","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:42:47.868016+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.9","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPP2R2B as Amber List (moderate evidence)","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:42:47.858529+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:42:42.644616+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2170","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PPP2R2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:42:15.850632+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.8","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPP2R2B as Amber List (moderate evidence)","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:42:15.833409+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:42:00.731442+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2169","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPP2R2B as Amber List (moderate evidence)","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:42:00.718484+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2169","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:40:57.057148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PPP2R2B: Rating: AMBER; Mode of pathogenicity: None; Publications: 25356899, 39565297; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:38:52.552609+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.7","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PPP2R2B was added\ngene: PPP2R2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP2R2B were set to 25356899; 39565297\nPhenotypes for gene: PPP2R2B were set to Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related\nReview for gene: PPP2R2B was set to AMBER\nAdded comment: 5 cases with NDD and heterozygous missense (4/5 confirmed de novo): p.Thr246Lys (unknown inheritance), p.Asn310Lys (confirmed de novo), p.Glu37Lys (confirmed de novo, also had RNU4-2 path de novo Path variant), p.Ile427Thr (confirmed de novo, also had TAOK1 inherited Path variant), p.Arg149Pro (confirmed de novo). 5/5 with intellectual disability and developmental delay, 4/5 with seizures, 2/5 with hearing loss/auditory neuropathy. Study includes in vitro functional assays supporting a possible loss of function mechanism of disease. The 2 missense with additional diagnoses (E37K & I427T) demonstrated a partial reduction in PP2A holoenzyme assembly. Only 3 cases with a possible diagnosis that could be attributed to the PPP2R2B only, and only 2 were confirmed de novo. \nSources: Literature","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:38:35.930427+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:38:15.664211+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.77","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PPP2R2B as ready","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:38:15.654505+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).","entity_name":"PPP2R2B","entity_type":"gene"}]}