{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=391","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=389","results":[{"created":"2024-09-12T19:58:33.696931+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.6","user_name":"Thomas Scerri","item_type":"entity","text":"gene: KCND3 was added\ngene: KCND3 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCND3 were set to Brugada syndrome 9, MIM# 616399; Spinocerebellar ataxia 19, MIM# 607346\nReview for gene: KCND3 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review","entity_name":"KCND3","entity_type":"gene"},{"created":"2024-09-12T19:49:17.904741+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.6","user_name":"Thomas Scerri","item_type":"entity","text":"gene: GNAI1 was added\ngene: GNAI1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GNAI1 were set to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854\nReview for gene: GNAI1 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review","entity_name":"GNAI1","entity_type":"gene"},{"created":"2024-09-12T19:41:21.697202+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.6","user_name":"Thomas Scerri","item_type":"entity","text":"gene: FBXW7 was added\ngene: FBXW7 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBXW7 were set to Developmental delay, hypotonia, and impaired language, MIM# 620012\nReview for gene: FBXW7 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review","entity_name":"FBXW7","entity_type":"gene"},{"created":"2024-09-12T19:35:04.931395+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.6","user_name":"Thomas Scerri","item_type":"entity","text":"gene: EHMT1 was added\ngene: EHMT1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EHMT1 were set to Kleefstra syndrome 1, MIM# 610253\nReview for gene: EHMT1 was set to RED\nAdded comment: Two in-house (as yet unpublished) CAS probands with a pathogenic variant. \nSources: Expert list, Expert Review","entity_name":"EHMT1","entity_type":"gene"},{"created":"2024-09-12T19:30:07.780914+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.6","user_name":"Thomas Scerri","item_type":"entity","text":"gene: CAMTA1 was added\ngene: CAMTA1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CAMTA1 were set to Cerebellar dysfunction with variable cognitive and behavioral abnormalities, MIM# 614756\nReview for gene: CAMTA1 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2024-09-12T19:20:39.118068+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.6","user_name":"Thomas Scerri","item_type":"entity","text":"gene: CAMK2A was added\ngene: CAMK2A was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CAMK2A were set to Intellectual developmental disorder, autosomal dominant 53, MIM# 617798\nReview for gene: CAMK2A was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review","entity_name":"CAMK2A","entity_type":"gene"},{"created":"2024-09-12T19:13:49.220680+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.6","user_name":"Thomas Scerri","item_type":"entity","text":"gene: CACNA1A was added\ngene: CACNA1A was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1A were set to 38712155\nPhenotypes for gene: CACNA1A were set to Developmental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, MIM# 141500; Spinocerebellar ataxia 6, MIM# 183086\nReview for gene: CACNA1A was set to GREEN\nAdded comment: Three in-house (as yet unpublished) CAS probands with pathogenic variants.\r\n\r\nMagielski et al. (2024; PMID: 38712155) report 1 individual with speech apraxia and a CACNA1C genetic diagnosis. \nSources: Expert list, Expert Review","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2024-09-12T18:45:11.276396+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RET as ready","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-12T18:45:11.263546+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ret has been classified as Green List (High Evidence).","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-12T18:44:36.921483+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEN1 as ready","entity_name":"MEN1","entity_type":"gene"},{"created":"2024-09-12T18:44:36.901964+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: men1 has been classified as Green List (High Evidence).","entity_name":"MEN1","entity_type":"gene"},{"created":"2024-09-12T18:44:27.326985+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCM2 as ready","entity_name":"GCM2","entity_type":"gene"},{"created":"2024-09-12T18:44:27.312335+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcm2 has been classified as Green List (High Evidence).","entity_name":"GCM2","entity_type":"gene"},{"created":"2024-09-12T18:44:16.958081+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKN1B as ready","entity_name":"CDKN1B","entity_type":"gene"},{"created":"2024-09-12T18:44:16.945001+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn1b has been classified as Green List (High Evidence).","entity_name":"CDKN1B","entity_type":"gene"},{"created":"2024-09-12T18:44:03.439383+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC73 as ready","entity_name":"CDC73","entity_type":"gene"},{"created":"2024-09-12T18:44:03.419749+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc73 has been classified as Green List (High Evidence).","entity_name":"CDC73","entity_type":"gene"},{"created":"2024-09-12T18:43:54.387635+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASR as ready","entity_name":"CASR","entity_type":"gene"},{"created":"2024-09-12T18:43:54.371122+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casr has been classified as Green List (High Evidence).","entity_name":"CASR","entity_type":"gene"},{"created":"2024-09-12T18:41:13.417673+10:00","panel_name":"Thyroid Cancer","panel_id":4362,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Thyroid Neoplasm to Thyroid Cancer","entity_name":null,"entity_type":null},{"created":"2024-09-12T18:40:55.746432+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RET as ready","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-12T18:40:55.723712+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ret has been classified as Green List (High Evidence).","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-12T18:40:47.724807+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTEN as ready","entity_name":"PTEN","entity_type":"gene"},{"created":"2024-09-12T18:40:47.706850+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pten has been classified as Green List (High Evidence).","entity_name":"PTEN","entity_type":"gene"},{"created":"2024-09-12T18:40:39.937123+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKAR1A as ready","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2024-09-12T18:40:39.919876+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1a has been classified as Green List (High Evidence).","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2024-09-12T18:40:31.781974+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DICER1 as ready","entity_name":"DICER1","entity_type":"gene"},{"created":"2024-09-12T18:40:31.767719+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dicer1 has been classified as Green List (High Evidence).","entity_name":"DICER1","entity_type":"gene"},{"created":"2024-09-12T18:40:24.941950+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKN1B as ready","entity_name":"CDKN1B","entity_type":"gene"},{"created":"2024-09-12T18:40:24.932652+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn1b has been classified as Green List (High Evidence).","entity_name":"CDKN1B","entity_type":"gene"},{"created":"2024-09-12T18:40:15.274432+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APC as ready","entity_name":"APC","entity_type":"gene"},{"created":"2024-09-12T18:40:15.255575+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apc has been classified as Green List (High Evidence).","entity_name":"APC","entity_type":"gene"},{"created":"2024-09-12T18:39:16.572688+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANK2 as ready","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-09-12T18:39:16.560945+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ank2 has been classified as Red List (Low Evidence).","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-09-12T18:39:04.403007+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANK2 were changed from Cardiac arrhythmia, ankyrin-B-relatedNeurodevelopmental disorder (MONDO:0700092), gene-related to Neurodevelopmental disorder (MONDO:0700092), gene-related","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-09-12T18:38:49.363740+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANK2 as Red List (low evidence)","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-09-12T18:38:49.343099+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ank2 has been classified as Red List (Low Evidence).","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-09-12T18:38:25.391380+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BPTF as ready","entity_name":"BPTF","entity_type":"gene"},{"created":"2024-09-12T18:38:25.375641+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bptf has been classified as Red List (Low Evidence).","entity_name":"BPTF","entity_type":"gene"},{"created":"2024-09-12T18:38:20.943684+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BPTF as Red List (low evidence)","entity_name":"BPTF","entity_type":"gene"},{"created":"2024-09-12T18:38:20.933298+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bptf has been classified as Red List (Low Evidence).","entity_name":"BPTF","entity_type":"gene"},{"created":"2024-09-12T18:33:58.223038+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VHL as ready","entity_name":"VHL","entity_type":"gene"},{"created":"2024-09-12T18:33:58.204355+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vhl has been classified as Green List (High Evidence).","entity_name":"VHL","entity_type":"gene"},{"created":"2024-09-12T18:33:50.627830+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSC2 as ready","entity_name":"TSC2","entity_type":"gene"},{"created":"2024-09-12T18:33:50.606196+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsc2 has been classified as Green List (High Evidence).","entity_name":"TSC2","entity_type":"gene"},{"created":"2024-09-12T18:33:43.760896+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSC1 as ready","entity_name":"TSC1","entity_type":"gene"},{"created":"2024-09-12T18:33:43.741163+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsc1 has been classified as Green List (High Evidence).","entity_name":"TSC1","entity_type":"gene"},{"created":"2024-09-12T18:33:37.062190+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDHD as ready","entity_name":"SDHD","entity_type":"gene"},{"created":"2024-09-12T18:33:37.044208+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdhd has been classified as Green List (High Evidence).","entity_name":"SDHD","entity_type":"gene"},{"created":"2024-09-12T18:33:29.446431+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDHC as ready","entity_name":"SDHC","entity_type":"gene"},{"created":"2024-09-12T18:33:29.429622+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdhc has been classified as Green List (High Evidence).","entity_name":"SDHC","entity_type":"gene"},{"created":"2024-09-12T18:33:22.060257+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDHB as ready","entity_name":"SDHB","entity_type":"gene"},{"created":"2024-09-12T18:33:22.049375+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdhb has been classified as Green List (High Evidence).","entity_name":"SDHB","entity_type":"gene"},{"created":"2024-09-12T18:33:15.033224+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDHAF2 as ready","entity_name":"SDHAF2","entity_type":"gene"},{"created":"2024-09-12T18:33:15.014565+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdhaf2 has been classified as Green List (High Evidence).","entity_name":"SDHAF2","entity_type":"gene"},{"created":"2024-09-12T18:33:09.211349+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDHA as ready","entity_name":"SDHA","entity_type":"gene"},{"created":"2024-09-12T18:33:09.193532+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdha has been classified as Green List (High Evidence).","entity_name":"SDHA","entity_type":"gene"},{"created":"2024-09-12T18:33:00.613776+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTEN as ready","entity_name":"PTEN","entity_type":"gene"},{"created":"2024-09-12T18:33:00.598849+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pten has been classified as Green List (High Evidence).","entity_name":"PTEN","entity_type":"gene"},{"created":"2024-09-12T18:32:54.015250+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MET as ready","entity_name":"MET","entity_type":"gene"},{"created":"2024-09-12T18:32:54.003173+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: met has been classified as Green List (High Evidence).","entity_name":"MET","entity_type":"gene"},{"created":"2024-09-12T18:32:46.019104+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLCN as ready","entity_name":"FLCN","entity_type":"gene"},{"created":"2024-09-12T18:32:46.004745+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flcn has been classified as Green List (High Evidence).","entity_name":"FLCN","entity_type":"gene"},{"created":"2024-09-12T18:32:38.856809+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FH as ready","entity_name":"FH","entity_type":"gene"},{"created":"2024-09-12T18:32:38.841579+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2024-09-12T18:32:29.785700+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BAP1 as ready","entity_name":"BAP1","entity_type":"gene"},{"created":"2024-09-12T18:32:29.772443+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bap1 has been classified as Green List (High Evidence).","entity_name":"BAP1","entity_type":"gene"},{"created":"2024-09-12T18:29:39.402521+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.3","user_name":"Thomas Scerri","item_type":"entity","text":"gene: BPTF was added\ngene: BPTF was added to Speech apraxia. Sources: Expert Review,Expert list\nMode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BPTF were set to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755\nReview for gene: BPTF was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert Review, Expert list","entity_name":"BPTF","entity_type":"gene"},{"created":"2024-09-12T18:23:39.341075+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.3","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert Review; to: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \r\nSources: Expert list, Expert Review","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-09-12T18:19:25.755032+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.3","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: ANK2: Changed phenotypes: Cardiac arrhythmia, ankyrin-B-related, MIM# 600919, Long QT syndrome 4, MIM# 600919, Neurodevelopmental disorder (MONDO:0700092), ANK2-related","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-09-12T18:14:07.523756+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.3","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: ANK2: Changed phenotypes: Cardiac arrhythmia, ankyrin-B-related, MIM# 600919, Long QT syndrome 4, MIM# 600919, Neurodevelopmental disorder (MONDO:0700092), gene-related","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-09-12T18:12:21.048753+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.3","user_name":"Thomas Scerri","item_type":"entity","text":"gene: ANK2 was added\ngene: ANK2 was added to Speech apraxia. Sources: Expert Review\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANK2 were set to 37195288\nPhenotypes for gene: ANK2 were set to Cardiac arrhythmia, ankyrin-B-relatedNeurodevelopmental disorder (MONDO:0700092), gene-related\nReview for gene: ANK2 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert Review","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-09-12T17:03:34.614516+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.3","user_name":"Thomas Scerri","item_type":"entity","text":"commented on gene: SETBP1: Two in-house (as yet unpublished) CAS probands with pathogenic variants.","entity_name":"SETBP1","entity_type":"gene"},{"created":"2024-09-12T17:01:31.540340+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.3","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: An unpublished CAS proband with a pathogenic variant.; to: An in-house (as yet unpublished) CAS proband with a pathogenic variant.","entity_name":"FOXP2","entity_type":"gene"},{"created":"2024-09-12T16:59:58.746818+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.3","user_name":"Thomas Scerri","item_type":"entity","text":"commented on gene: FOXP2: An unpublished CAS proband with a pathogenic variant.","entity_name":"FOXP2","entity_type":"gene"},{"created":"2024-09-12T16:42:07.845450+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHANK3 as Amber List (moderate evidence)","entity_name":"SHANK3","entity_type":"gene"},{"created":"2024-09-12T16:42:07.829794+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shank3 has been classified as Amber List (Moderate Evidence).","entity_name":"SHANK3","entity_type":"gene"},{"created":"2024-09-12T16:41:41.466133+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR5 as Amber List (moderate evidence)","entity_name":"WDR5","entity_type":"gene"},{"created":"2024-09-12T16:41:41.452475+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr5 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR5","entity_type":"gene"},{"created":"2024-09-12T16:41:21.689971+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SETD1A as Green List (high evidence)","entity_name":"SETD1A","entity_type":"gene"},{"created":"2024-09-12T16:41:21.669997+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setd1a has been classified as Green List (High Evidence).","entity_name":"SETD1A","entity_type":"gene"},{"created":"2024-09-12T16:09:30.988674+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BAP1 as Green List (high evidence)","entity_name":"BAP1","entity_type":"gene"},{"created":"2024-09-12T16:09:30.957175+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.26","user_name":"Chirag Patel","item_type":"entity","text":"Gene: bap1 has been classified as Green List (High Evidence).","entity_name":"BAP1","entity_type":"gene"},{"created":"2024-09-12T16:09:25.930519+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.25","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FH as Green List (high evidence)","entity_name":"FH","entity_type":"gene"},{"created":"2024-09-12T16:09:25.913023+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.25","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2024-09-12T16:09:20.784412+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FLCN as Green List (high evidence)","entity_name":"FLCN","entity_type":"gene"},{"created":"2024-09-12T16:09:20.761350+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"Gene: flcn has been classified as Green List (High Evidence).","entity_name":"FLCN","entity_type":"gene"},{"created":"2024-09-12T16:09:15.128833+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.23","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PTEN as Green List (high evidence)","entity_name":"PTEN","entity_type":"gene"},{"created":"2024-09-12T16:09:15.098735+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.23","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pten has been classified as Green List (High Evidence).","entity_name":"PTEN","entity_type":"gene"},{"created":"2024-09-12T16:09:10.157487+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.22","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MET as Green List (high evidence)","entity_name":"MET","entity_type":"gene"},{"created":"2024-09-12T16:09:10.142632+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.22","user_name":"Chirag Patel","item_type":"entity","text":"Gene: met has been classified as Green List (High Evidence).","entity_name":"MET","entity_type":"gene"},{"created":"2024-09-12T16:08:36.147749+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.21","user_name":"Chirag Patel","item_type":"entity","text":"gene: MET was added\ngene: MET was added to Kidney Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MET were set to Renal carcinoma, MONDO:0005206; Papillary renal cell carcinoma, MONDO:0017884; Renal cell carcinoma, papillary, 1, familial, MIM#605074\nMode of pathogenicity for gene: MET 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: MET was set to GREEN\nAdded comment: ClinGen definitive. GOF variants. \nSources: Expert list, Expert Review","entity_name":"MET","entity_type":"gene"},{"created":"2024-09-12T16:07:56.402700+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.20","user_name":"Chirag Patel","item_type":"entity","text":"gene: PTEN was added\ngene: PTEN was added to Kidney Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTEN were set to Renal carcinoma, MONDO:0005206; PTEN hamartoma tumor syndrome, MONDO:0017623; PTEN hamartoma tumour syndromes, MIM#158350\nReview for gene: PTEN was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"PTEN","entity_type":"gene"},{"created":"2024-09-12T16:07:30.845648+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.19","user_name":"Chirag Patel","item_type":"entity","text":"gene: FLCN was added\ngene: FLCN was added to Kidney Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLCN were set to Renal carcinoma, MONDO:0005206; Birt-Hogg-Dube syndrome 1, MONDO:0800445; Birt-Hogg-Dube syndrome, MIM#135150\nReview for gene: FLCN was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"FLCN","entity_type":"gene"},{"created":"2024-09-12T16:07:14.116504+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.18","user_name":"Chirag Patel","item_type":"entity","text":"gene: FH was added\ngene: FH was added to Kidney Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FH were set to Renal carcinoma, MONDO:0005206; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyomatosis and renal cell cancer, MIM#150800\nReview for gene: FH was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"FH","entity_type":"gene"},{"created":"2024-09-12T16:06:50.483690+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.17","user_name":"Chirag Patel","item_type":"entity","text":"gene: BAP1 was added\ngene: BAP1 was added to Kidney Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BAP1 were set to Renal carcinoma, MONDO:0005206; BAP1-related tumor predisposition syndrome, MONDO:0013692; BAP1-tumour predisposition syndrome, MIM#614327\nReview for gene: BAP1 was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"BAP1","entity_type":"gene"},{"created":"2024-09-12T16:05:39.321351+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.16","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TSC1 as Green List (high evidence)","entity_name":"TSC1","entity_type":"gene"},{"created":"2024-09-12T16:05:39.310129+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.16","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tsc1 has been classified as Green List (High Evidence).","entity_name":"TSC1","entity_type":"gene"},{"created":"2024-09-12T16:05:34.866336+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.15","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TSC2 as Green List (high evidence)","entity_name":"TSC2","entity_type":"gene"},{"created":"2024-09-12T16:05:34.852291+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.15","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tsc2 has been classified as Green List (High Evidence).","entity_name":"TSC2","entity_type":"gene"}]}