{"count":220828,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1975","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1973","results":[{"created":"2020-01-21T11:34:52.744438+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MTOR as Red List (low evidence)","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-01-21T11:34:52.738899+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations, thus this gene is not suitable for a germline testing panel.","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-01-21T11:34:52.709586+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtor has been classified as Red List (Low Evidence).","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-01-21T11:32:59.325296+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on mode of pathogenicity: Gain-of-function is the mechanism of disease","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-01-21T11:32:59.302005+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of pathogenicity for gene: MTOR was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-01-21T11:31:35.936424+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MTOR was added\ngene: MTOR was added to Inherited Vascular Malformations. Sources: Expert list\nsomatic tags were added to gene: MTOR.\nMode of inheritance for gene: MTOR was set to Other\nPublications for gene: MTOR were set to 28892148; 29174369\nPhenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341\nReview for gene: MTOR was set to AMBER\nAdded comment: Haemangiomas are not a prominent feature of Smith-Kingsmore syndrome, which is caused by germline variants in MTOR (PMID: 28892148). A somatic MTOR (p.F1888L) variant was detected in a subject with macrodactyly and bilateral venous malformation of the lower extremities (PMID: 29174369). mTOR inhibitors are important in the management of vascular anomalies. It appears activating mutations in genes in the mTOR pathway are causative of vascular malformations rather than activating mutations in MTOR itself. \nSources: Expert list","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-01-21T11:02:44.128274+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MAP3K3 as Red List (low evidence)","entity_name":"MAP3K3","entity_type":"gene"},{"created":"2020-01-21T11:02:44.122735+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Somatic mutations are the cause of vascular malformations, thus this gene is not appropriate for a germline testing panel.","entity_name":"MAP3K3","entity_type":"gene"},{"created":"2020-01-21T11:02:44.093619+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: map3k3 has been classified as Red List (Low Evidence).","entity_name":"MAP3K3","entity_type":"gene"},{"created":"2020-01-21T11:00:37.692797+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MAP3K3 was added\ngene: MAP3K3 was added to Inherited Vascular Malformations. Sources: Expert list\nsomatic tags were added to gene: MAP3K3.\nMode of inheritance for gene: MAP3K3 was set to Other\nPublications for gene: MAP3K3 were set to 10700190; 25728774\nPhenotypes for gene: MAP3K3 were set to Verrucous venous malformation\nReview for gene: MAP3K3 was set to GREEN\nAdded comment: Somatic variants have been identified in 6 (out of 10) verrucous venous malformation specimens (and not in the germline). The authors suggest that the somatic mutations have a neomorphic or hypermorphic function. \nSources: Expert list","entity_name":"MAP3K3","entity_type":"gene"},{"created":"2020-01-21T10:37:29.631316+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MAP2K1 as Red List (low evidence)","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2020-01-21T10:37:29.626004+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus it is not appropriate to include this gene on a germline testing panel.","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2020-01-21T10:37:29.597151+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: map2k1 has been classified as Red List (Low Evidence).","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2020-01-21T10:36:36.194885+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MAP2K1 was added\ngene: MAP2K1 was added to Inherited Vascular Malformations. Sources: Expert list\nsomatic tags were added to gene: MAP2K1.\nMode of inheritance for gene: MAP2K1 was set to Other\nPublications for gene: MAP2K1 were set to 31486960; 29461977; 28190454\nPhenotypes for gene: MAP2K1 were set to Intramuscular fast-flow vascular anomaly; Arteriovenous malformation\nMode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MAP2K1 was set to GREEN\nAdded comment: Somatic activating mutations in this gene cause sporadic vascular malformations. \nSources: Expert list","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2020-01-21T10:32:01.560248+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KRAS as Red List (low evidence)","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-01-21T10:32:01.554477+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations in this gene, thus it is not suitable to include on a germline testing panel.","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-01-21T10:32:01.524078+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kras has been classified as Red List (Low Evidence).","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-01-21T10:31:07.180845+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KRAS was added\ngene: KRAS was added to Inherited Vascular Malformations. Sources: Expert list\nsomatic tags were added to gene: KRAS.\nMode of inheritance for gene: KRAS was set to Other\nPublications for gene: KRAS were set to 30677207; 30544177; 31160609\nPhenotypes for gene: KRAS were set to Arteriovenous malformation of the brain, somatic 108010; Vascular malformation\nMode of pathogenicity for gene: KRAS was set to Other\nReview for gene: KRAS was set to GREEN\nAdded comment: Somatic activating mutations in this gene cause sporadic vascular malformations, particularly CNS AVMs. Germline mutations cause RASopathies. \nSources: Expert list","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-01-21T10:23:35.530167+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KDR as Amber List (moderate evidence)","entity_name":"KDR","entity_type":"gene"},{"created":"2020-01-21T10:23:35.524746+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: There is currently insufficient reports in patients to determine if this gene causes an inherited vascular malformation (haemangioma).","entity_name":"KDR","entity_type":"gene"},{"created":"2020-01-21T10:23:35.492862+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kdr has been classified as Amber List (Moderate Evidence).","entity_name":"KDR","entity_type":"gene"},{"created":"2020-01-21T10:22:31.579277+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Tag somatic tag was added to gene: KDR.","entity_name":"KDR","entity_type":"gene"},{"created":"2020-01-21T10:22:12.102291+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KDR was added\ngene: KDR was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KDR were set to 30475086; 7596435; 24704994; 18931684\nPhenotypes for gene: KDR were set to {Hemangioma, capillary infantile, susceptibility to} 602089; Hemangioma, capillary infantile, somatic 602089; Cystic hygroma\nReview for gene: KDR was set to AMBER\nAdded comment: The variant identified in PMID: 18931684 (Cys482Arg) in the germline of two unrelated hemangioma cases is too common in gnomAD to be associated with rare dominant disease, but may be a susceptibility loci. Another germline missense variant has been identified in a case of cystic hygroma (PMID: 30475086). Flk1-/- (Kdr-/-) mice are embryonic lethal  and demonstrate an early defect in the development of hematopoietic and endothelial cells. Organized blood vessels could not be observed. \nSources: Expert list","entity_name":"KDR","entity_type":"gene"},{"created":"2020-01-21T09:39:27.172190+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HRAS as Red List (low evidence)","entity_name":"HRAS","entity_type":"gene"},{"created":"2020-01-21T09:39:27.166593+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Somatic activating mutations cause vascular malformations, which is not really appropriate for a germline testing panel","entity_name":"HRAS","entity_type":"gene"},{"created":"2020-01-21T09:39:27.136084+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hras has been classified as Red List (Low Evidence).","entity_name":"HRAS","entity_type":"gene"},{"created":"2020-01-21T09:38:24.955897+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HRAS was added\ngene: HRAS was added to Inherited Vascular Malformations. Sources: Expert list\nsomatic tags were added to gene: HRAS.\nMode of inheritance for gene: HRAS was set to Other\nPublications for gene: HRAS were set to 31637524; 31160609; 30208313\nPhenotypes for gene: HRAS were set to Extracranial arteriovenous malformations; Vascular malformation/overgrowth syndromes\nMode of pathogenicity for gene: HRAS was set to Other\nReview for gene: HRAS was set to GREEN\nAdded comment: Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Costello syndrome. \nSources: Expert list","entity_name":"HRAS","entity_type":"gene"},{"created":"2020-01-20T19:02:32.803160+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Vascular Malformations_RMH to Inherited Vascular Malformations\nPanel types changed to Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2020-01-20T18:55:20.983516+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GNA14 as Red List (low evidence)","entity_name":"GNA14","entity_type":"gene"},{"created":"2020-01-20T18:55:20.978174+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Somatic activating mutations have only been reported to cause vascular malformations. This gene is not really suitable for a germline testing panel.","entity_name":"GNA14","entity_type":"gene"},{"created":"2020-01-20T18:55:20.948892+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gna14 has been classified as Red List (Low Evidence).","entity_name":"GNA14","entity_type":"gene"},{"created":"2020-01-20T18:54:11.945427+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GNA14 was added\ngene: GNA14 was added to Vascular Malformations_RMH. Sources: Expert list\nsomatic tags were added to gene: GNA14.\nMode of inheritance for gene: GNA14 was set to Other\nPublications for gene: GNA14 were set to 31423605; 31707589; 27476652\nPhenotypes for gene: GNA14 were set to Tufted angioma; Anastomosing hemangioma; vascular tumours\nMode of pathogenicity for gene: GNA14 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: GNA14 was set to GREEN\nAdded comment: Somatic activating mutations cause sporadic and congenital vascular tumours. \nSources: Expert list","entity_name":"GNA14","entity_type":"gene"},{"created":"2020-01-20T18:43:06.271310+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CDKN1C was added\ngene: CDKN1C was added to Vascular Malformations_RMH. Sources: Expert list\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732\nReview for gene: CDKN1C was set to RED\nAdded comment: It's not clearly reported that vascular malformations are a prominent feature of either of the conditions associated with this gene. \nSources: Expert list","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2020-01-20T18:30:18.620342+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BRAF as Red List (low evidence)","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-01-20T18:30:18.608989+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: braf has been classified as Red List (Low Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-01-20T18:30:08.333116+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GNA11 as Red List (low evidence)","entity_name":"GNA11","entity_type":"gene"},{"created":"2020-01-20T18:30:08.318385+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gna11 has been classified as Red List (Low Evidence).","entity_name":"GNA11","entity_type":"gene"},{"created":"2020-01-20T18:29:57.656423+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GNAQ as Red List (low evidence)","entity_name":"GNAQ","entity_type":"gene"},{"created":"2020-01-20T18:29:57.644900+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gnaq has been classified as Red List (Low Evidence).","entity_name":"GNAQ","entity_type":"gene"},{"created":"2020-01-20T18:29:44.656968+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AKT1 as Red List (low evidence)","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T18:29:44.645546+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: akt1 has been classified as Red List (Low Evidence).","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T18:29:18.653427+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BRAF as Amber List (moderate evidence)","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-01-20T18:29:18.648058+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Somatic activating mutations only are associated with vascular malformations. Not really suitable for a germline testing panel.","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-01-20T18:29:18.618348+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: braf has been classified as Amber List (Moderate Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-01-20T18:27:49.315405+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BRAF was added\ngene: BRAF was added to Vascular Malformations_RMH. Sources: Expert list\nsomatic tags were added to gene: BRAF.\nMode of inheritance for gene: BRAF was set to Other\nPublications for gene: BRAF were set to 29316280; 29461977; 30544177\nPhenotypes for gene: BRAF were set to Sporadic vascular malformations\nMode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: BRAF was set to GREEN\nAdded comment: Somatic activating mutations in BRAF cause sporadic vascular malformations and have recently been identified in CNS arteriovenous malformations. \nSources: Expert list","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-01-20T18:19:02.909074+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T18:19:00.243951+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Tag somatic tag was added to gene: AKT1.","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T18:18:35.014497+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Tag somatic tag was added to gene: GNA11.","entity_name":"GNA11","entity_type":"gene"},{"created":"2020-01-20T18:18:18.693593+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GNAQ as Amber List (moderate evidence)","entity_name":"GNAQ","entity_type":"gene"},{"created":"2020-01-20T18:18:18.688166+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Somatic mutation only causes vascular malformations. Not really suitable for a germline testing panel.","entity_name":"GNAQ","entity_type":"gene"},{"created":"2020-01-20T18:18:18.658833+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gnaq has been classified as Amber List (Moderate Evidence).","entity_name":"GNAQ","entity_type":"gene"},{"created":"2020-01-20T18:02:16.176264+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GNAQ was added\ngene: GNAQ was added to Vascular Malformations_RMH. Sources: Expert list\nsomatic tags were added to gene: GNAQ.\nMode of inheritance for gene: GNAQ was set to Other\nPublications for gene: GNAQ were set to 30920161\nPhenotypes for gene: GNAQ were set to Sturge-Weber syndrome, somatic, mosaic 185300; Capillary malformations, congenital, 1, somatic, mosaic 163000; Phacomatosis pigmentovascularis\nReview for gene: GNAQ was set to GREEN\nAdded comment: The somatic activating mutation Arg183Gln cause conditions with vascular malformations. \nSources: Expert list","entity_name":"GNAQ","entity_type":"gene"},{"created":"2020-01-20T17:53:49.983278+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AKT1 as Amber List (moderate evidence)","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T17:53:49.977929+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Somatic variants have been reported in association with vascular malformation. This gene is probably not suitable for a germline testing panel.","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T17:53:49.948361+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: akt1 has been classified as Amber List (Moderate Evidence).","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T17:52:18.910280+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GNA11 as Amber List (moderate evidence)","entity_name":"GNA11","entity_type":"gene"},{"created":"2020-01-20T17:52:18.904506+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Probably not suitable for a germline testing panel","entity_name":"GNA11","entity_type":"gene"},{"created":"2020-01-20T17:52:18.867623+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gna11 has been classified as Amber List (Moderate Evidence).","entity_name":"GNA11","entity_type":"gene"},{"created":"2020-01-20T17:51:38.499927+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30920161, 30677207; Phenotypes: Phacomatosis pigmentovascularis, somatic; Mode of inheritance: Other","entity_name":"GNA11","entity_type":"gene"},{"created":"2020-01-20T17:33:46.772289+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AKT1 as Green List (high evidence)","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T17:33:46.766912+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: This gene is green for somatic variants.","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T17:33:46.736740+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: akt1 has been classified as Green List (High Evidence).","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T17:33:16.696325+11:00","panel_name":"Vascular Malformations_RMH","panel_id":300,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AKT1 was added\ngene: AKT1 was added to Vascular Malformations_RMH. Sources: Expert list\nMode of inheritance for gene: AKT1 was set to Other\nPublications for gene: AKT1 were set to 23246288\nPhenotypes for gene: AKT1 were set to Proteus syndrome, somatic 176920; Cowden syndrome 6 615109\nMode of pathogenicity for gene: AKT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: AKT1 was set to GREEN\nAdded comment: Activating mutations in this gene cause disease. Somatic activating variants cause Proteus syndrome, a disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Activating germline AKT1 variants have been reported in 2 cowden syndrome cases, that were negative for PTEN. Vascular malformations were not reported as part of the phenotype for these two cases. \nSources: Expert list","entity_name":"AKT1","entity_type":"gene"},{"created":"2020-01-20T16:03:20.453438+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.4","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: RRAS2 as Green List (high evidence)","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-20T16:03:20.440243+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.4","user_name":"Alison Yeung","item_type":"entity","text":"Gene: rras2 has been classified as Green List (High Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-20T16:02:57.360542+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.3","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: RRAS2 as Green List (high evidence)","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-20T16:02:57.346625+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.3","user_name":"Alison Yeung","item_type":"entity","text":"Gene: rras2 has been classified as Green List (High Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-20T16:02:41.865241+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.3","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: RRAS2 as ready","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-20T16:02:41.851845+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.3","user_name":"Alison Yeung","item_type":"entity","text":"Gene: rras2 has been classified as Green List (High Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-20T16:02:28.332116+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.3","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: RRAS2 as Green List (high evidence)","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-20T16:02:28.320078+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.3","user_name":"Alison Yeung","item_type":"entity","text":"Gene: rras2 has been classified as Green List (High Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-20T15:59:42.808275+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.2","user_name":"Alison Yeung","item_type":"entity","text":"gene: RRAS2 was added\ngene: RRAS2 was added to Rasopathy. Sources: Literature\nMode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RRAS2 were set to PMID: 31130282\nPhenotypes for gene: RRAS2 were set to Noonan syndrome 12 OMIM #618624\nReview for gene: RRAS2 was set to GREEN\nAdded comment: Six unrelated families reported \nSources: Literature","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-20T15:48:33.464862+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.861","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TP73 as ready","entity_name":"TP73","entity_type":"gene"},{"created":"2020-01-20T15:48:33.451911+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.861","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tp73 has been classified as Amber List (Moderate Evidence).","entity_name":"TP73","entity_type":"gene"},{"created":"2020-01-20T15:48:27.305329+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.861","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: TP73 as Amber List (moderate evidence)","entity_name":"TP73","entity_type":"gene"},{"created":"2020-01-20T15:48:27.293354+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.861","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tp73 has been classified as Amber List (Moderate Evidence).","entity_name":"TP73","entity_type":"gene"},{"created":"2020-01-20T15:48:07.626007+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.860","user_name":"Alison Yeung","item_type":"entity","text":"gene: TP73 was added\ngene: TP73 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP73 were set to PMID: 31130284\nPhenotypes for gene: TP73 were set to Cortical malformation; Lissencephaly\nReview for gene: TP73 was set to AMBER\nAdded comment: Two unrelated families reported. No functional data \nSources: Literature","entity_name":"TP73","entity_type":"gene"},{"created":"2020-01-20T15:44:00.728295+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.859","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: SMG8 as ready","entity_name":"SMG8","entity_type":"gene"},{"created":"2020-01-20T15:44:00.716530+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.859","user_name":"Alison Yeung","item_type":"entity","text":"Gene: smg8 has been classified as Amber List (Moderate Evidence).","entity_name":"SMG8","entity_type":"gene"},{"created":"2020-01-20T15:43:54.264096+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.859","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SMG8 as Amber List (moderate evidence)","entity_name":"SMG8","entity_type":"gene"},{"created":"2020-01-20T15:43:54.252848+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.859","user_name":"Alison Yeung","item_type":"entity","text":"Gene: smg8 has been classified as Amber List (Moderate Evidence).","entity_name":"SMG8","entity_type":"gene"},{"created":"2020-01-20T15:43:26.091261+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.858","user_name":"Alison Yeung","item_type":"entity","text":"gene: SMG8 was added\ngene: SMG8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMG8 were set to PMID: 31130284\nPhenotypes for gene: SMG8 were set to Intellectual disability\nReview for gene: SMG8 was set to AMBER\nAdded comment: Two unrelated families reported. No functional data \nSources: Literature","entity_name":"SMG8","entity_type":"gene"},{"created":"2020-01-20T15:38:55.525815+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.857","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: IQSEC3 as ready","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2020-01-20T15:38:55.513743+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.857","user_name":"Alison Yeung","item_type":"entity","text":"Gene: iqsec3 has been classified as Amber List (Moderate Evidence).","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2020-01-20T15:38:49.513735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.857","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: IQSEC3 as Amber List (moderate evidence)","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2020-01-20T15:38:49.502451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.857","user_name":"Alison Yeung","item_type":"entity","text":"Gene: iqsec3 has been classified as Amber List (Moderate Evidence).","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2020-01-20T15:38:28.357223+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.856","user_name":"Alison Yeung","item_type":"entity","text":"gene: IQSEC3 was added\ngene: IQSEC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQSEC3 were set to PMID: 31130284\nPhenotypes for gene: IQSEC3 were set to Intellectual disability\nReview for gene: IQSEC3 was set to AMBER\nAdded comment: Two unrelated families reported, no functional data \nSources: Literature","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2020-01-20T15:29:08.805976+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.855","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: ICE1 as ready","entity_name":"ICE1","entity_type":"gene"},{"created":"2020-01-20T15:29:08.794051+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.855","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ice1 has been classified as Amber List (Moderate Evidence).","entity_name":"ICE1","entity_type":"gene"},{"created":"2020-01-20T15:24:21.396518+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.855","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: ICE1 as Amber List (moderate evidence)","entity_name":"ICE1","entity_type":"gene"},{"created":"2020-01-20T15:24:21.384697+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.855","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ice1 has been classified as Amber List (Moderate Evidence).","entity_name":"ICE1","entity_type":"gene"},{"created":"2020-01-20T15:24:03.555669+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.854","user_name":"Alison Yeung","item_type":"entity","text":"gene: ICE1 was added\ngene: ICE1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICE1 were set to PMID: 31130284\nPhenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy\nReview for gene: ICE1 was set to AMBER\nAdded comment: Two unrelated families reported, no functional data \nSources: Literature","entity_name":"ICE1","entity_type":"gene"},{"created":"2020-01-20T11:28:08.778147+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.853","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: EIF2A as ready","entity_name":"EIF2A","entity_type":"gene"},{"created":"2020-01-20T11:28:08.763316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.853","user_name":"Alison Yeung","item_type":"entity","text":"Gene: eif2a has been classified as Amber List (Moderate Evidence).","entity_name":"EIF2A","entity_type":"gene"},{"created":"2020-01-20T11:27:34.282920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.853","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: EIF2A as Amber List (moderate evidence)","entity_name":"EIF2A","entity_type":"gene"},{"created":"2020-01-20T11:27:34.271452+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.853","user_name":"Alison Yeung","item_type":"entity","text":"Gene: eif2a has been classified as Amber List (Moderate Evidence).","entity_name":"EIF2A","entity_type":"gene"},{"created":"2020-01-20T11:27:14.782659+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.852","user_name":"Alison Yeung","item_type":"entity","text":"gene: EIF2A was added\ngene: EIF2A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF2A were set to PMID: 31130284\nPhenotypes for gene: EIF2A were set to Intellectual disability, epilepsy\nReview for gene: EIF2A was set to AMBER\nAdded comment: reported in two unrelated families \nSources: Literature","entity_name":"EIF2A","entity_type":"gene"},{"created":"2020-01-20T11:25:19.026201+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1623","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: EIF2A as Amber List (moderate evidence)","entity_name":"EIF2A","entity_type":"gene"},{"created":"2020-01-20T11:25:19.014330+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1623","user_name":"Alison Yeung","item_type":"entity","text":"Gene: eif2a has been classified as Amber List (Moderate Evidence).","entity_name":"EIF2A","entity_type":"gene"},{"created":"2020-01-20T11:25:15.479554+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1622","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: EIF2A as ready","entity_name":"EIF2A","entity_type":"gene"}]}