{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1890","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1888","results":[{"created":"2020-03-31T20:07:56.135579+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1877","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DRP2 as Green List (high evidence)","entity_name":"DRP2","entity_type":"gene"},{"created":"2020-03-31T20:07:56.127009+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1877","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: drp2 has been classified as Green List (High Evidence).","entity_name":"DRP2","entity_type":"gene"},{"created":"2020-03-31T20:07:38.700864+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1876","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DRP2 was added\ngene: DRP2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: DRP2 were set to 26227883; 11430802; 31217940; 22764250; 29473052\nPhenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN\nReview for gene: DRP2 was set to GREEN\nAdded comment: Three unrelated families, functional data. \nSources: Expert list","entity_name":"DRP2","entity_type":"gene"},{"created":"2020-03-31T19:47:01.026546+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"PLEKHG5","entity_type":"gene"},{"created":"2020-03-31T19:24:58.726511+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KIF5A as Green List (high evidence)","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-03-31T19:24:58.717702+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kif5a has been classified as Green List (High Evidence).","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-03-31T19:24:27.780480+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KIF5A was added\ngene: KIF5A was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5A were set to 29342275; 30301576; 29566793\nPhenotypes for gene: KIF5A were set to {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921\nReview for gene: KIF5A was set to GREEN\nAdded comment: 12 patients from 9 unrelated families with ALS, had heterozygous LOF variants in the C-terminal region cargo-binding region. Variants causing SPG10 are almost exclusively missense mutations that affect the N-terminal motor domain. \nSources: Expert list","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-03-31T19:11:03.261874+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GNE was added\ngene: GNE was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNE were set to 29086072\nPhenotypes for gene: GNE were set to Amyotrophic lateral sclerosis\nReview for gene: GNE was set to RED\nAdded comment: Single family reported with ALS \nSources: Expert list","entity_name":"GNE","entity_type":"gene"},{"created":"2020-03-31T19:07:51.926092+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GLT8D1 as Green List (high evidence)","entity_name":"GLT8D1","entity_type":"gene"},{"created":"2020-03-31T19:07:51.916702+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: glt8d1 has been classified as Green List (High Evidence).","entity_name":"GLT8D1","entity_type":"gene"},{"created":"2020-03-31T19:07:08.287114+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GLT8D1 was added\ngene: GLT8D1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: GLT8D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLT8D1 were set to 30811981\nPhenotypes for gene: GLT8D1 were set to Amyotrophic lateral sclerosis\nReview for gene: GLT8D1 was set to GREEN\nAdded comment: 14 ALS cases with heterozygous missense (10 cases with p.R92C), and supporting in vitro functional assays and zebrafish model. \nSources: Expert list","entity_name":"GLT8D1","entity_type":"gene"},{"created":"2020-03-31T18:59:45.267323+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DGUOK as ready","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-03-31T18:59:45.254330+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dguok has been classified as Green List (High Evidence).","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-03-31T18:59:41.800779+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DGUOK as Green List (high evidence)","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-03-31T18:59:41.791448+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dguok has been classified as Green List (High Evidence).","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-03-31T18:59:34.187629+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DGUOK was added\ngene: DGUOK was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy\nReview for gene: DGUOK was set to GREEN\nAdded comment: Sources: NHS GMS","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-03-31T18:58:26.006882+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DGAT2 as ready","entity_name":"DGAT2","entity_type":"gene"},{"created":"2020-03-31T18:58:25.998023+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dgat2 has been classified as Amber List (Moderate Evidence).","entity_name":"DGAT2","entity_type":"gene"},{"created":"2020-03-31T18:58:17.276176+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DGAT2 as Amber List (moderate evidence)","entity_name":"DGAT2","entity_type":"gene"},{"created":"2020-03-31T18:58:17.262868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dgat2 has been classified as Amber List (Moderate Evidence).","entity_name":"DGAT2","entity_type":"gene"},{"created":"2020-03-31T18:57:58.841306+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1874","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DGAT2 was added\ngene: DGAT2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DGAT2 were set to 26786738\nPhenotypes for gene: DGAT2 were set to axonal Charcot-Marie-Tooth disease\nReview for gene: DGAT2 was set to AMBER\nAdded comment: Single family (father and son) reported, with supporting in vitro functional assays and a zebrafish model. \nSources: Expert Review","entity_name":"DGAT2","entity_type":"gene"},{"created":"2020-03-31T18:50:40.846535+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DAO was added\ngene: DAO was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: DAO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DAO were set to 29274788; 29895397; 20368421; 29194436\nPhenotypes for gene: DAO were set to Amyotrophic Lateral Sclerosis\nReview for gene: DAO was set to RED\nAdded comment: Many mouse models, but reported variant in a case is R199W, which has gnomAD AF higher than expected for a dominant ALS gene. No compelling evidence in human cases. \nSources: Expert list","entity_name":"DAO","entity_type":"gene"},{"created":"2020-03-31T18:48:00.789124+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EWSR1 as Amber List (moderate evidence)","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-03-31T18:48:00.775822+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ewsr1 has been classified as Amber List (Moderate Evidence).","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-03-31T18:47:20.548193+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EWSR1 was added\ngene: EWSR1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: EWSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EWSR1 were set to 29731676; 22454397\nPhenotypes for gene: EWSR1 were set to Amyotrophic lateral sclerosis\nReview for gene: EWSR1 was set to AMBER\nAdded comment: Mouse model and 2 missense reported in 2 ALS cases, but no other reports in ALS cases since 2012 \nSources: Expert list","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-03-31T18:43:27.210518+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1873","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ERLIN1 as Green List (high evidence)","entity_name":"ERLIN1","entity_type":"gene"},{"created":"2020-03-31T18:43:27.196939+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1873","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: erlin1 has been classified as Green List (High Evidence).","entity_name":"ERLIN1","entity_type":"gene"},{"created":"2020-03-31T18:41:08.491404+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1872","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ERLIN1 was added\ngene: ERLIN1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERLIN1 were set to 24482476\nPhenotypes for gene: ERLIN1 were set to Spastic paraplegia 62 MIM#615681\nReview for gene: ERLIN1 was set to GREEN\nAdded comment: Three unrelated consanguineous families with early onset pure HSP. \nSources: Expert list","entity_name":"ERLIN1","entity_type":"gene"},{"created":"2020-03-31T18:38:22.560781+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ERLIN1 was added\ngene: ERLIN1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERLIN1 were set to 29453415\nPhenotypes for gene: ERLIN1 were set to Amyotrophic lateral sclerosis\nReview for gene: ERLIN1 was set to RED\nAdded comment: Homozygous varinat segregates with ALS in a single family \nSources: Expert list","entity_name":"ERLIN1","entity_type":"gene"},{"created":"2020-03-31T18:37:55.054232+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPOX as ready","entity_name":"CPOX","entity_type":"gene"},{"created":"2020-03-31T18:37:55.041034+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpox has been classified as Green List (High Evidence).","entity_name":"CPOX","entity_type":"gene"},{"created":"2020-03-31T18:37:51.624774+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CPOX as Green List (high evidence)","entity_name":"CPOX","entity_type":"gene"},{"created":"2020-03-31T18:37:51.616246+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpox has been classified as Green List (High Evidence).","entity_name":"CPOX","entity_type":"gene"},{"created":"2020-03-31T18:37:43.134674+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPOX was added\ngene: CPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CPOX were set to Coproporphyria, MIM#121300; Harderoporphyria, MIM#121300\nReview for gene: CPOX was set to GREEN\nAdded comment: Acute intermittent porphyria-like phenotype, including neuropathy. \nSources: NHS GMS","entity_name":"CPOX","entity_type":"gene"},{"created":"2020-03-31T18:33:51.696324+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD59 as ready","entity_name":"CD59","entity_type":"gene"},{"created":"2020-03-31T18:33:51.687541+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd59 has been classified as Green List (High Evidence).","entity_name":"CD59","entity_type":"gene"},{"created":"2020-03-31T18:33:46.074497+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD59 as Green List (high evidence)","entity_name":"CD59","entity_type":"gene"},{"created":"2020-03-31T18:33:46.066023+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd59 has been classified as Green List (High Evidence).","entity_name":"CD59","entity_type":"gene"},{"created":"2020-03-31T18:33:38.370707+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD59 was added\ngene: CD59 was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD59 were set to 24382084; 23149847\nPhenotypes for gene: CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy\t612300\nReview for gene: CD59 was set to GREEN\nAdded comment: Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. \nSources: NHS GMS","entity_name":"CD59","entity_type":"gene"},{"created":"2020-03-31T18:30:58.566889+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCKDHB as ready","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2020-03-31T18:30:58.558355+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdhb has been classified as Green List (High Evidence).","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2020-03-31T18:30:55.032318+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCKDHB as Green List (high evidence)","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2020-03-31T18:30:55.023727+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdhb has been classified as Green List (High Evidence).","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2020-03-31T18:30:46.097498+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHB was added\ngene: BCKDHB was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy\nReview for gene: BCKDHB was set to GREEN\nAdded comment: Sources: NHS GMS","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2020-03-31T18:21:17.467735+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ERBB4 as ready","entity_name":"ERBB4","entity_type":"gene"},{"created":"2020-03-31T18:21:17.454356+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: erbb4 has been classified as Green List (High Evidence).","entity_name":"ERBB4","entity_type":"gene"},{"created":"2020-03-31T18:21:12.881313+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ERBB4 as Green List (high evidence)","entity_name":"ERBB4","entity_type":"gene"},{"created":"2020-03-31T18:21:12.872269+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: erbb4 has been classified as Green List (High Evidence).","entity_name":"ERBB4","entity_type":"gene"},{"created":"2020-03-31T18:20:44.287361+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ERBB4 was added\ngene: ERBB4 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERBB4 were set to 24119685; 28889094\nPhenotypes for gene: ERBB4 were set to Amyotrophic lateral sclerosis 19 MIM#615515\nReview for gene: ERBB4 was set to GREEN\nAdded comment: At least 4 cases with ALS \nSources: Expert list","entity_name":"ERBB4","entity_type":"gene"},{"created":"2020-03-31T18:07:33.118410+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APOA1 as ready","entity_name":"APOA1","entity_type":"gene"},{"created":"2020-03-31T18:07:33.109842+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apoa1 has been classified as Green List (High Evidence).","entity_name":"APOA1","entity_type":"gene"},{"created":"2020-03-31T18:07:29.064013+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APOA1 as Green List (high evidence)","entity_name":"APOA1","entity_type":"gene"},{"created":"2020-03-31T18:07:29.050730+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apoa1 has been classified as Green List (High Evidence).","entity_name":"APOA1","entity_type":"gene"},{"created":"2020-03-31T18:07:20.882272+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APOA1 was added\ngene: APOA1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APOA1 were set to Amyloidosis, 3 or more types\t105200; Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy\nReview for gene: APOA1 was set to GREEN\nAdded comment: Neuropathy is a predominant feature, particularly of the Iowa type, associated with p.Gly26Arg \nSources: NHS GMS","entity_name":"APOA1","entity_type":"gene"},{"created":"2020-03-31T17:01:42.472065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1871","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BTBD7 as ready","entity_name":"BTBD7","entity_type":"gene"},{"created":"2020-03-31T17:01:42.467967+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1871","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agreed, no evidence currently for Mendelian gene-disease association.","entity_name":"BTBD7","entity_type":"gene"},{"created":"2020-03-31T17:01:42.438042+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1871","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: btbd7 has been classified as Red List (Low Evidence).","entity_name":"BTBD7","entity_type":"gene"},{"created":"2020-03-31T17:01:31.255729+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1871","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BTBD7 as Red List (low evidence)","entity_name":"BTBD7","entity_type":"gene"},{"created":"2020-03-31T17:01:31.242057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1871","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: btbd7 has been classified as Red List (Low Evidence).","entity_name":"BTBD7","entity_type":"gene"},{"created":"2020-03-31T16:59:53.340301+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1870","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOS1AP as ready","entity_name":"NOS1AP","entity_type":"gene"},{"created":"2020-03-31T16:59:53.334191+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1870","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agreed, cannot find evidence for Mendelian gene-disease association.","entity_name":"NOS1AP","entity_type":"gene"},{"created":"2020-03-31T16:59:53.288046+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1870","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nos1ap has been classified as Red List (Low Evidence).","entity_name":"NOS1AP","entity_type":"gene"},{"created":"2020-03-31T16:59:45.777181+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1870","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NOS1AP as Red List (low evidence)","entity_name":"NOS1AP","entity_type":"gene"},{"created":"2020-03-31T16:59:45.768274+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1870","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nos1ap has been classified as Red List (Low Evidence).","entity_name":"NOS1AP","entity_type":"gene"},{"created":"2020-03-31T16:56:04.166408+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1869","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARID2 as ready","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-03-31T16:56:04.153105+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1869","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arid2 has been classified as Green List (High Evidence).","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-03-31T16:55:56.982113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1869","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARID2 were changed from  to Coffin-Siris syndrome 6, MIM#617808","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-03-31T16:55:41.347658+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1868","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARID2 were set to 30838730","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-03-31T16:54:53.162393+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1867","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARID2 were set to ","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-03-31T16:54:39.187000+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1866","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARID2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-03-31T16:54:04.611260+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1865","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC1H1 as ready","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-03-31T16:54:04.598020+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1865","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync1h1 has been classified as Green List (High Evidence).","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-03-31T16:53:58.102437+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1865","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DYNC1H1 were changed from  to Charcot-Marie-Tooth disease, axonal, type 20; Mental retardation, autosomal dominant 13; Spinal muscular atrophy, lower extremity-predominant 1","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-03-31T16:53:43.355591+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1864","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DYNC1H1 were set to ","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-03-31T16:52:26.086578+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1863","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: DYNC1H1 was changed from  to Other","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-03-31T16:52:04.710481+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1862","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-03-31T16:48:45.796307+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2498","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PQBP1 as ready","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:48:45.783306+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2498","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pqbp1 has been classified as Green List (High Evidence).","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:48:23.971496+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2498","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PQBP1 were changed from  to Renpenning syndrome, MIM#309500","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:47:56.195572+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2497","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PQBP1 were set to ","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:47:29.526504+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2496","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:46:57.382443+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2495","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31840929, 14634649, 20410308; Phenotypes: Renpenning syndrome, MIM#309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:45:32.651475+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1861","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PQBP1 as ready","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:45:32.643097+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1861","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pqbp1 has been classified as Green List (High Evidence).","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:45:25.947655+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1861","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PQBP1 were changed from  to Renpenning syndrome, MIM#309500","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:44:49.138704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1860","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PQBP1 were set to ","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:44:22.465965+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1859","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: PQBP1 was changed from  to Other","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:43:59.230961+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1858","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-31T16:41:43.073981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1857","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD3 as ready","entity_name":"CHD3","entity_type":"gene"},{"created":"2020-03-31T16:41:43.067807+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1857","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Over 30 unrelated individuals reported.","entity_name":"CHD3","entity_type":"gene"},{"created":"2020-03-31T16:41:43.002339+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd3 has been classified as Green List (High Evidence).","entity_name":"CHD3","entity_type":"gene"},{"created":"2020-03-31T16:41:34.422397+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1857","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHD3 were changed from  to Snijders Blok-Campeau syndrome (618205)","entity_name":"CHD3","entity_type":"gene"},{"created":"2020-03-31T16:41:20.885578+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1856","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHD3 were set to ","entity_name":"CHD3","entity_type":"gene"},{"created":"2020-03-31T16:41:05.982597+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1855","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: CHD3 was changed from  to Other","entity_name":"CHD3","entity_type":"gene"},{"created":"2020-03-31T16:40:19.695430+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1854","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD3","entity_type":"gene"},{"created":"2020-03-31T16:39:11.299343+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22335739; Phenotypes: Cardiomyopathy, dilated, 1G, MIM#604145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TTN","entity_type":"gene"},{"created":"2020-03-31T16:37:05.604081+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTN as ready","entity_name":"TTN","entity_type":"gene"},{"created":"2020-03-31T16:37:05.589592+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttn has been classified as Green List (High Evidence).","entity_name":"TTN","entity_type":"gene"},{"created":"2020-03-31T16:37:01.033478+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTN were set to ","entity_name":"TTN","entity_type":"gene"},{"created":"2020-03-31T16:35:22.377988+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTN were changed from  to Cardiomyopathy, dilated, 1G, MIM#604145","entity_name":"TTN","entity_type":"gene"}]}