{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1506","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1504","results":[{"created":"2020-11-11T16:04:08.010839+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.5","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ntrk1 has been classified as Green List (High Evidence).","entity_name":"NTRK1","entity_type":"gene"},{"created":"2020-11-11T16:04:03.719413+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.5","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: NTRK1 as Green List (high evidence)","entity_name":"NTRK1","entity_type":"gene"},{"created":"2020-11-11T16:04:03.709912+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.5","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ntrk1 has been classified as Green List (High Evidence).","entity_name":"NTRK1","entity_type":"gene"},{"created":"2020-11-11T16:02:30.791697+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.4","user_name":"Alison Yeung","item_type":"entity","text":"gene: NTRK1 was added\ngene: NTRK1 was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NTRK1 were set to OMIM# 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1\nReview for gene: NTRK1 was set to GREEN\nAdded comment: Sources: Literature","entity_name":"NTRK1","entity_type":"gene"},{"created":"2020-11-11T16:01:12.147605+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.3","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: NGF as Green List (high evidence)","entity_name":"NGF","entity_type":"gene"},{"created":"2020-11-11T16:01:12.136081+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.3","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ngf has been classified as Green List (High Evidence).","entity_name":"NGF","entity_type":"gene"},{"created":"2020-11-11T16:00:58.735401+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.2","user_name":"Alison Yeung","item_type":"entity","text":"gene: NGF was added\ngene: NGF was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGF were set to OMIM #608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5\nReview for gene: NGF was set to GREEN\ngene: NGF was marked as current diagnostic\nAdded comment: Sources: Literature","entity_name":"NGF","entity_type":"gene"},{"created":"2020-11-11T15:57:58.939068+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.1","user_name":"Alison Yeung","item_type":"panel","text":"Panel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2020-11-11T15:57:18.417206+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.0","user_name":"Alison Yeung","item_type":"panel","text":"Added Panel Autonomic neuropathy\nSet panel types to: Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-11-11T14:11:37.806492+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5357","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAR as ready","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-11-11T14:11:37.795920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adar has been classified as Green List (High Evidence).","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-11-11T14:11:28.782985+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5357","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAR were changed from  to Aicardi-Goutieres syndrome 6, MIM# 615010; Dyschromatosis symmetrica hereditaria, MIM# 127400","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-11-11T14:11:08.185342+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5356","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADAR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-11-11T14:10:47.524499+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5355","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010, Dyschromatosis symmetrica hereditaria, MIM# 127400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-11-11T14:06:56.890043+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-11-11T14:06:21.424307+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADAR: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-11-11T12:57:54.945695+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC19A3 as ready","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2020-11-11T12:57:54.921133+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc19a3 has been classified as Green List (High Evidence).","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2020-11-11T12:57:51.046217+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC19A3 as Green List (high evidence)","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2020-11-11T12:57:51.033962+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc19a3 has been classified as Green List (High Evidence).","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2020-11-11T12:57:39.235058+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC19A3 was added\ngene: SLC19A3 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM#\t607483\nReview for gene: SLC19A3 was set to GREEN\nAdded comment: Well established gene-disease association, treatable condition. External ophthalmoplegia is a feature. \nSources: Expert list","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2020-11-11T12:55:30.138850+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA as ready","entity_name":"GBA","entity_type":"gene"},{"created":"2020-11-11T12:55:30.099640+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Green List (High Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2020-11-11T12:55:20.726849+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GBA as Green List (high evidence)","entity_name":"GBA","entity_type":"gene"},{"created":"2020-11-11T12:55:20.707486+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Green List (High Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2020-11-11T12:55:09.220610+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBA was added\ngene: GBA was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA were set to Gaucher disease, type II, MIM#\t230900\nReview for gene: GBA was set to GREEN\nAdded comment: Well established gene-disease association. Cranial nerve involvement is common and can manifest as convergent squint, strabismus, ocular paresis, oculomotor apraxia. \nSources: Expert list","entity_name":"GBA","entity_type":"gene"},{"created":"2020-11-11T12:43:21.154901+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Congenital fibrosis of the extraocular muscles to Congenital ophthalmoplegia","entity_name":null,"entity_type":null},{"created":"2020-11-11T12:22:30.623051+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFB10 were set to 28040730; 32025618","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-11-11T12:21:43.677050+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5355","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFB10 as Green List (high evidence)","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-11-11T12:21:43.666297+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb10 has been classified as Green List (High Evidence).","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-11-11T12:21:19.780710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5354","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFB10 were set to 28040730; 32025618","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-11-11T12:21:00.784391+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5353","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFB10: Added comment: Second family reported, functional data, upgrade to Green.; Changed rating: GREEN; Changed publications: 28040730, 32025618, 33169436","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-11-11T12:20:19.469831+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFB10 as Green List (high evidence)","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-11-11T12:20:19.458747+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb10 has been classified as Green List (High Evidence).","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-11-11T12:19:48.937153+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFB10: Added comment: Second family reported, functional data, upgrade to Green.; Changed rating: GREEN; Changed publications: 33169436","entity_name":"NDUFB10","entity_type":"gene"},{"created":"2020-11-11T11:57:19.239946+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.6","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28635953; Phenotypes: susceptibility to Moyamoya disease 2, (MIM# 607151); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"RNF213","entity_type":"gene"},{"created":"2020-11-11T10:43:30.082496+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SCP2 as ready","entity_name":"SCP2","entity_type":"gene"},{"created":"2020-11-11T10:43:30.066777+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: scp2 has been classified as Red List (Low Evidence).","entity_name":"SCP2","entity_type":"gene"},{"created":"2020-11-11T10:43:22.749626+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCP2 was added\ngene: SCP2 was added to Neuroferritinopathies. Sources: Literature\nMode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCP2 were set to 26497993\nPhenotypes for gene: SCP2 were set to Neurodegeneration with brain iron accumulation; ataxia\nReview for gene: SCP2 was set to RED\nAdded comment: A single case with biallelic variants has been reported with neurodegeneration with brain iron accumulation and ataxia. \nSources: Literature","entity_name":"SCP2","entity_type":"gene"},{"created":"2020-11-11T10:29:33.575080+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PSEN1 as ready","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-11-11T10:29:33.565636+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psen1 has been classified as Red List (Low Evidence).","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-11-11T10:29:00.578492+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSEN1 was added\ngene: PSEN1 was added to Neuroferritinopathies. Sources: Literature\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN1 were set to 28664294\nPhenotypes for gene: PSEN1 were set to Neurodegeneration with brain iron accumulation; Frontotemporal dementia, MIM# 600274\nReview for gene: PSEN1 was set to RED\nAdded comment: A single case has been reported with a de novo variant and iron accumulation in the brain. \nSources: Literature","entity_name":"PSEN1","entity_type":"gene"},{"created":"2020-11-11T10:09:44.197880+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-11-11T10:01:10.785263+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR45 was added\ngene: WDR45 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: WDR45 were set to Beta-propeller protein-associated neurodegeneration (BPAN)","entity_name":"WDR45","entity_type":"gene"},{"created":"2020-11-11T10:01:10.746277+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PLA2G6 was added\ngene: PLA2G6 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration (PLAN)","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2020-11-11T10:01:10.704460+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PANK2 was added\ngene: PANK2 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PANK2 were set to Pantothenate kinase-associated neurodegeneration (PKAN)","entity_name":"PANK2","entity_type":"gene"},{"created":"2020-11-11T10:01:10.664717+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FTL was added\ngene: FTL was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FTL were set to Neuroferritinopathy","entity_name":"FTL","entity_type":"gene"},{"created":"2020-11-11T10:01:10.620693+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FA2H was added\ngene: FA2H was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FA2H were set to Fatty acid hydroxylase-associated neurodegeneration (FAHN)","entity_name":"FA2H","entity_type":"gene"},{"created":"2020-11-11T10:01:10.580666+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DCAF17 was added\ngene: DCAF17 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome","entity_name":"DCAF17","entity_type":"gene"},{"created":"2020-11-11T10:01:10.541261+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CP was added\ngene: CP was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CP were set to Aceruloplasminemia","entity_name":"CP","entity_type":"gene"},{"created":"2020-11-11T10:01:10.502807+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COASY was added\ngene: COASY was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COASY were set to OMIM 618266); COASY protein-associated neurodegeneration (CoPAN","entity_name":"COASY","entity_type":"gene"},{"created":"2020-11-11T10:01:10.463653+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: C19orf12 was added\ngene: C19orf12 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: C19orf12 were set to Mitochondrial membrane protein-associated neurodegeneration (MPAN)","entity_name":"C19orf12","entity_type":"gene"},{"created":"2020-11-11T10:01:10.420895+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP13A2 was added\ngene: ATP13A2 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome (OMIM 606693)","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2020-11-11T10:01:10.393301+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Neuroferritinopathies","entity_name":null,"entity_type":null},{"created":"2020-11-11T09:34:51.859989+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5353","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXJ1 were changed from hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry to Ciliary dyskinesia, primary, 43, MIM#618699; hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-11-11T09:34:28.960400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5352","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FOXJ1: Changed phenotypes: Ciliary dyskinesia, primary, 43, MIM#618699, hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-11-11T09:34:06.741790+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXJ1 were changed from Congenital hydrocephalus to Congenital hydrocephalus; Ciliary dyskinesia, primary, 43, MIM#618699","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-11-11T09:33:35.183496+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FOXJ1: Changed phenotypes: Congenital hydrocephalus, Ciliary dyskinesia, primary, 43, MIM#618699","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-11-11T09:33:06.258944+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXJ1 were changed from Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry to Ciliary dyskinesia, primary, 43, MIM#618699; Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-11-11T09:32:23.293793+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FOXJ1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-11-11T09:32:09.476289+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXJ1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 43, MIM#618699; Mode of inheritance: None","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-11-11T09:31:29.323583+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXJ1 were changed from hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry to Ciliary dyskinesia, primary, 43, MIM#\t618699; hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-11-11T09:30:46.932210+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FOXJ1: Changed phenotypes: Ciliary dyskinesia, primary, 43, MIM# 618699, hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-11-11T08:28:32.057867+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3190","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPK1 were changed from Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin to Noonan syndrome 13, MIM#619087; Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin","entity_name":"MAPK1","entity_type":"gene"},{"created":"2020-11-11T08:27:56.027362+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3189","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 13, MIM#619087, Global developmental delay, Intellectual disability, Behavioral abnormality, Growth delay, Abnormality of the face, Abnormality of the neck, Abnormality of the cardiovascular system, Abnormality of the skin; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAPK1","entity_type":"gene"},{"created":"2020-11-11T08:27:14.543232+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPK1 were changed from Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin to Noonan syndrome 13, MIM#619087; Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin","entity_name":"MAPK1","entity_type":"gene"},{"created":"2020-11-11T08:26:39.328449+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPK1: Changed phenotypes: Noonan syndrome 13, MIM#619087, Global developmental delay, Intellectual disability, Behavioral abnormality, Growth delay, Abnormality of the face, Abnormality of the neck, Abnormality of the cardiovascular system, Abnormality of the skin","entity_name":"MAPK1","entity_type":"gene"},{"created":"2020-11-11T08:26:14.224149+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5352","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPK1 were changed from Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin to Noonan syndrome 13, MIM#619087; Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin","entity_name":"MAPK1","entity_type":"gene"},{"created":"2020-11-11T08:25:45.369380+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5351","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPK1: Changed phenotypes: Noonan syndrome 13, MIM# 619087, Global developmental delay, Intellectual disability, Behavioral abnormality, Growth delay, Abnormality of the face, Abnormality of the neck, Abnormality of the cardiovascular system, Abnormality of the skin","entity_name":"MAPK1","entity_type":"gene"},{"created":"2020-11-11T08:21:46.094734+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5351","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCD5 as ready","entity_name":"SCD5","entity_type":"gene"},{"created":"2020-11-11T08:21:46.086623+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scd5 has been classified as Red List (Low Evidence).","entity_name":"SCD5","entity_type":"gene"},{"created":"2020-11-11T08:21:33.025111+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5351","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCD5 was added\ngene: SCD5 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SCD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCD5 were set to 31972369\nPhenotypes for gene: SCD5 were set to Deafness, autosomal dominant 79, MIM#619086\nReview for gene: SCD5 was set to RED\nAdded comment: Single 5-generation family reported with a missense variant segregating in 19 affected individuals. Variant is found at a low frequency in ExAC. \nSources: Expert list","entity_name":"SCD5","entity_type":"gene"},{"created":"2020-11-11T08:19:38.628362+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCD5 as ready","entity_name":"SCD5","entity_type":"gene"},{"created":"2020-11-11T08:19:38.620060+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scd5 has been classified as Red List (Low Evidence).","entity_name":"SCD5","entity_type":"gene"},{"created":"2020-11-11T08:19:30.369142+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCD5 was added\ngene: SCD5 was added to Deafness_IsolatedAndComplex. Sources: Expert list\nMode of inheritance for gene: SCD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCD5 were set to 31972369\nPhenotypes for gene: SCD5 were set to Deafness, autosomal dominant 79, MIM#619086\nReview for gene: SCD5 was set to RED\nAdded comment: Single 5-generation family reported with a missense variant segregating in 19 affected individuals. Variant is found at a low frequency in ExAC. \nSources: Expert list","entity_name":"SCD5","entity_type":"gene"},{"created":"2020-11-11T08:12:21.983866+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5350","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Deafness, autosomal dominant 78, MIM#619081; Congenital, severe to profound hearing loss to Delpire-McNeill syndrome, MIM#\t619083; Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Deafness, autosomal dominant 78, MIM#619081; Congenital, severe to profound hearing loss","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:11:28.236101+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5349","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC12A2: Changed phenotypes: Delpire-McNeill syndrome, MIM#619083, Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies, Deafness, autosomal dominant 78, MIM# 619081","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:10:50.649880+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3189","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome, MIM#619080; deafness; intellectual disability; dysmorphic features; absent salivation; ectodermal dysplasia; constipation; intestinal malrotation; multiple congenital anomalies to Delpire-McNeill syndrome, MIM#\t619083; Kilquist syndrome, MIM#619080; deafness; intellectual disability; dysmorphic features; absent salivation; ectodermal dysplasia; constipation; intestinal malrotation; multiple congenital anomalies","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:10:02.483482+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3188","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC12A2: Changed phenotypes: Delpire-McNeill syndrome, MIM# 619083, Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:08:02.382664+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay; Deafness, autosomal dominant 78, MIM#\t619081","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:06:27.678242+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies, Deafness, autosomal dominant 78, MIM# 619081","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:05:22.091229+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5349","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Deafness, autosomal dominant 78, MIM#619081; Congenital, severe to profound hearing loss","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:04:40.234767+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5348","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies, Deafness, autosomal dominant 78, MIM# 619081","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:02:36.870030+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3188","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation; ectodermal dysplasia; constipation; intestinal malrotation; multiple congenital anomalies to Kilquist syndrome, MIM#619080; deafness; intellectual disability; dysmorphic features; absent salivation; ectodermal dysplasia; constipation; intestinal malrotation; multiple congenital anomalies","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:01:50.207623+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3187","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:01:30.114289+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T08:00:42.980800+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T07:59:53.216384+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5348","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-11T07:59:16.357403+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5347","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2020-11-10T21:52:55.488499+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTC1 as ready","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-11-10T21:52:55.480663+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctc1 has been classified as Green List (High Evidence).","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-11-10T21:52:45.779715+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTC1 were changed from  to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-11-10T21:52:09.275617+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTC1 were set to ","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-11-10T21:51:33.543209+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-11-10T21:50:59.287405+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-11-10T20:48:21.254710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5347","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OCLN as ready","entity_name":"OCLN","entity_type":"gene"},{"created":"2020-11-10T20:48:21.246792+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ocln has been classified as Green List (High Evidence).","entity_name":"OCLN","entity_type":"gene"},{"created":"2020-11-10T20:48:14.496722+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5347","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OCLN were changed from  to Pseudo-TORCH syndrome 1, MIM#251290","entity_name":"OCLN","entity_type":"gene"},{"created":"2020-11-10T20:47:52.230303+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5346","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OCLN were set to ","entity_name":"OCLN","entity_type":"gene"},{"created":"2020-11-10T20:47:34.624264+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5345","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OCLN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"OCLN","entity_type":"gene"}]}