{"count":220504,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1551","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1549","results":[{"created":"2020-10-07T17:50:14.873713+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZIC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26340333, 32975022, 27884935; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis, MIM# 618736, Craniosynostosis 6, MIM# 616602; Mode of inheritance: None","entity_name":"ZIC1","entity_type":"gene"},{"created":"2020-10-07T17:47:09.949221+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGFR1 as ready","entity_name":"FGFR1","entity_type":"gene"},{"created":"2020-10-07T17:47:09.940252+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr1 has been classified as Green List (High Evidence).","entity_name":"FGFR1","entity_type":"gene"},{"created":"2020-10-07T17:47:07.415480+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGFR1 were changed from  to Pfeiffer syndrome, MIM# 101600; Jackson-Weiss syndrome 123150","entity_name":"FGFR1","entity_type":"gene"},{"created":"2020-10-07T17:46:39.342156+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: FGFR1 was changed from  to Other","entity_name":"FGFR1","entity_type":"gene"},{"created":"2020-10-07T17:46:12.782087+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR1","entity_type":"gene"},{"created":"2020-10-07T17:45:44.402352+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Pfeiffer syndrome, MIM# 101600, Jackson-Weiss syndrome 123150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR1","entity_type":"gene"},{"created":"2020-10-07T17:43:53.252705+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN1 as ready","entity_name":"FBN1","entity_type":"gene"},{"created":"2020-10-07T17:43:53.243916+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn1 has been classified as Green List (High Evidence).","entity_name":"FBN1","entity_type":"gene"},{"created":"2020-10-07T15:01:06.213138+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4826","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCC6 were set to 11536079","entity_name":"ABCC6","entity_type":"gene"},{"created":"2020-10-07T14:59:23.803534+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERF as ready","entity_name":"ERF","entity_type":"gene"},{"created":"2020-10-07T14:59:23.792924+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: erf has been classified as Green List (High Evidence).","entity_name":"ERF","entity_type":"gene"},{"created":"2020-10-07T14:59:15.145252+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERF were changed from  to Craniosynostosis 4, MIM# 600775","entity_name":"ERF","entity_type":"gene"},{"created":"2020-10-07T14:58:47.448836+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERF were set to ","entity_name":"ERF","entity_type":"gene"},{"created":"2020-10-07T14:55:28.552311+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ERF","entity_type":"gene"},{"created":"2020-10-07T14:55:00.366540+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354439, 26097063, 32370745, 30758909; Phenotypes: Craniosynostosis 4, MIM# 600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ERF","entity_type":"gene"},{"created":"2020-10-07T14:35:59.337702+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4825","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFNB1 as ready","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:35:59.329904+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4825","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efnb1 has been classified as Green List (High Evidence).","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:35:51.919691+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4825","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFNB1 were changed from  to Craniofrontonasal dysplasia, MIM# 304110","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:35:33.153902+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4824","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EFNB1 were set to ","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:35:14.224456+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4823","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EFNB1 was changed from Unknown to Other","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:34:56.427088+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4822","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15166289, 18627045, 23335590; Phenotypes: Craniofrontonasal dysplasia, MIM# 304110; Mode of inheritance: Other","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:34:03.738444+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFNB1 as ready","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:34:03.730787+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efnb1 has been classified as Green List (High Evidence).","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:34:00.658886+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFNB1 were changed from  to Craniofrontonasal dysplasia, MIM# 304110","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:33:34.436467+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EFNB1 were set to ","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:33:12.232542+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EFNB1 was changed from Unknown to Other","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:32:45.376183+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15166289, 18627045, 23335590,; Phenotypes: Craniofrontonasal dysplasia, MIM# 304110; Mode of inheritance: Other","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-10-07T14:15:31.529425+11:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.124","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Androgen insensitivity (MIM#300068), XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AR","entity_type":"gene"},{"created":"2020-10-07T14:14:40.999105+11:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.124","user_name":"Kristin Rigbye","item_type":"entity","text":"Deleted their review","entity_name":"AR","entity_type":"gene"},{"created":"2020-10-07T14:14:17.664050+11:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.124","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: AR: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity (MIM#300068), XLR; Mode of inheritance: None","entity_name":"AR","entity_type":"gene"},{"created":"2020-10-07T14:07:47.661406+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4822","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28102862; Phenotypes: Pseudoxanthoma elasticum (MIM#264800), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCC6","entity_type":"gene"},{"created":"2020-10-07T14:04:01.327988+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB2B was added\ngene: TUBB2B was added to Congenital fibrosis of the extraocular muscles. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB2B were set to 23001566\nPhenotypes for gene: TUBB2B were set to Fibrosis of extraocular muscles, congenital; Cortical dysplasia, complex, with other brain malformations 7","entity_name":"TUBB2B","entity_type":"gene"},{"created":"2020-10-07T14:04:01.287595+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRHL2 was added\ngene: GRHL2 was added to Congenital fibrosis of the extraocular muscles. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: GRHL2 was set to Unknown\nPublications for gene: GRHL2 were set to 29110737\nPhenotypes for gene: GRHL2 were set to Fibrosis of extraocular muscles, congenital","entity_name":"GRHL2","entity_type":"gene"},{"created":"2020-10-07T14:04:01.248839+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL25A1 was added\ngene: COL25A1 was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL25A1 were set to 25500261\nPhenotypes for gene: COL25A1 were set to Fibrosis of extraocular muscles, congenital, 5; Fibrosis of extraocular muscles, congenital, 5 616219","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-07T14:04:01.209124+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB3 was added\ngene: TUBB3 was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB3 were set to 27428177; 20074521\nPhenotypes for gene: TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A 600638; CFEOM3A","entity_name":"TUBB3","entity_type":"gene"},{"created":"2020-10-07T14:04:01.160082+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PHOX2A was added\ngene: PHOX2A was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PHOX2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHOX2A were set to 14597037; 22311481; 11600883\nPhenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2","entity_name":"PHOX2A","entity_type":"gene"},{"created":"2020-10-07T14:04:01.121699+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF21A was added\ngene: KIF21A was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF21A were set to 15621876; 15223798; 15621877; 18332320\nPhenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1 135700; Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 3B 135700","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-07T14:04:01.094859+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"panel","text":"Added panel Congenital fibrosis of the extraocular muscles","entity_name":null,"entity_type":null},{"created":"2020-10-07T10:20:40.017815+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Bleeding Disorders to Bleeding and Platelet Disorders","entity_name":null,"entity_type":null},{"created":"2020-10-07T10:11:20.766562+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4822","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGAP1 as ready","entity_name":"AGAP1","entity_type":"gene"},{"created":"2020-10-07T10:11:20.754780+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4822","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agap1 has been classified as Amber List (Moderate Evidence).","entity_name":"AGAP1","entity_type":"gene"},{"created":"2020-10-07T10:11:12.933957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4822","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGAP1 as Amber List (moderate evidence)","entity_name":"AGAP1","entity_type":"gene"},{"created":"2020-10-07T10:11:12.923666+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4822","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agap1 has been classified as Amber List (Moderate Evidence).","entity_name":"AGAP1","entity_type":"gene"},{"created":"2020-10-07T10:10:55.691144+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4821","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGAP1 was added\ngene: AGAP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AGAP1 were set to 31700678; 25666757; 30472483\nPhenotypes for gene: AGAP1 were set to Cerebral palsy\nReview for gene: AGAP1 was set to AMBER\nAdded comment: Two individuals reported with de novo variants in this gene and a CP phenotype. Rare variants over-represented in a case-control study. Supportive zebrafish model. Another individual with a deletion (+1 other gene) reported with ID and autism. \nSources: Literature","entity_name":"AGAP1","entity_type":"gene"},{"created":"2020-10-07T10:09:40.511590+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGAP1 as ready","entity_name":"AGAP1","entity_type":"gene"},{"created":"2020-10-07T10:09:40.498733+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agap1 has been classified as Amber List (Moderate Evidence).","entity_name":"AGAP1","entity_type":"gene"},{"created":"2020-10-07T10:05:03.414936+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGAP1 as Amber List (moderate evidence)","entity_name":"AGAP1","entity_type":"gene"},{"created":"2020-10-07T10:05:03.404653+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agap1 has been classified as Amber List (Moderate Evidence).","entity_name":"AGAP1","entity_type":"gene"},{"created":"2020-10-07T10:04:35.875215+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGAP1 was added\ngene: AGAP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: AGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AGAP1 were set to 31700678; 25666757; 30472483\nPhenotypes for gene: AGAP1 were set to Cerebral palsy\nReview for gene: AGAP1 was set to AMBER\nAdded comment: Two individuals reported with de novo variants in this gene and a CP phenotype. Rare variants over-represented in a case-control study. Supportive zebrafish model. Another individual with a deletion (+1 other gene) reported with ID and autism. \nSources: Literature","entity_name":"AGAP1","entity_type":"gene"},{"created":"2020-10-07T09:55:34.726486+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: L1CAM as ready","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-10-07T09:55:34.716805+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: l1cam has been classified as Green List (High Evidence).","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-10-07T09:55:31.022829+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: L1CAM were changed from  to CRASH syndrome, MIM# 303350","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-10-07T09:55:09.252778+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-10-07T09:54:40.806270+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700678; Phenotypes: CRASH syndrome, MIM# 303350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"L1CAM","entity_type":"gene"},{"created":"2020-10-07T09:52:52.943095+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NT5C2 as ready","entity_name":"NT5C2","entity_type":"gene"},{"created":"2020-10-07T09:52:52.931508+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nt5c2 has been classified as Green List (High Evidence).","entity_name":"NT5C2","entity_type":"gene"},{"created":"2020-10-07T09:52:48.599831+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NT5C2 as Green List (high evidence)","entity_name":"NT5C2","entity_type":"gene"},{"created":"2020-10-07T09:52:48.592256+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nt5c2 has been classified as Green List (High Evidence).","entity_name":"NT5C2","entity_type":"gene"},{"created":"2020-10-07T09:52:20.151033+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NT5C2 was added\ngene: NT5C2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NT5C2 were set to 31700678; 32153630\nPhenotypes for gene: NT5C2 were set to Spastic paraplegia 45, autosomal recessive, MIM#\t613162\nReview for gene: NT5C2 was set to GREEN\nAdded comment: Overlapping phenotype, two families reported with a CP phenotype. \nSources: Literature","entity_name":"NT5C2","entity_type":"gene"},{"created":"2020-10-07T09:49:08.666085+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF1A as ready","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-10-07T09:49:08.657131+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1a has been classified as Green List (High Evidence).","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-10-07T09:49:04.616204+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF1A as Green List (high evidence)","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-10-07T09:49:04.605852+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1a has been classified as Green List (High Evidence).","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-10-07T09:48:36.591253+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF1A was added\ngene: KIF1A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF1A were set to 31700678\nPhenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal dominant, MIM#\t610357\nReview for gene: KIF1A was set to GREEN\nAdded comment: Overlapping phenotype and at least two individuals identified as part of a CP cohort. \nSources: Literature","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-10-07T09:46:05.470551+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROC as ready","entity_name":"PROC","entity_type":"gene"},{"created":"2020-10-07T09:46:05.461834+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: proc has been classified as Amber List (Moderate Evidence).","entity_name":"PROC","entity_type":"gene"},{"created":"2020-10-07T09:46:00.638813+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PROC as Amber List (moderate evidence)","entity_name":"PROC","entity_type":"gene"},{"created":"2020-10-07T09:46:00.628705+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: proc has been classified as Amber List (Moderate Evidence).","entity_name":"PROC","entity_type":"gene"},{"created":"2020-10-07T09:45:33.094295+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROC was added\ngene: PROC was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PROC were set to 31700678; 20187890\nPhenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, MIM#\t612304\nReview for gene: PROC was set to AMBER\nAdded comment: Bi-allelic PROC variants described in 2 families presenting as complex CP. Other features such as purpura fulminans may be present depending on severity. \nSources: Literature","entity_name":"PROC","entity_type":"gene"},{"created":"2020-10-07T09:38:47.443285+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A1 as ready","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-10-07T09:38:47.432753+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a1 has been classified as Amber List (Moderate Evidence).","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-10-07T09:38:41.860439+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A1 as Amber List (moderate evidence)","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-10-07T09:38:41.852566+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a1 has been classified as Amber List (Moderate Evidence).","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-10-07T09:38:14.545362+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A1 was added\ngene: COL4A1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A1 were set to 31700678; 17379824\nPhenotypes for gene: COL4A1 were set to {Hemorrhage, intracerebral, susceptibility to}, MIM#\t614519\nReview for gene: COL4A1 was set to AMBER\nAdded comment: One individual reported with variant in this gene and a CP phenotype PMID 31700678, and another with recurrent stroke PMID 17379824. However, note variable expressivity and penetrance generally associated with COL4A1 variants, and apply caution. \nSources: Literature","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-10-07T09:05:18.359298+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4820","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMN1 as ready","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-10-07T09:05:18.327825+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4820","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smn1 has been classified as Green List (High Evidence).","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-10-07T09:05:10.819090+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4820","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMN1 were changed from  to Spinal muscular atrophy-1, MIM# 253300","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-10-07T09:04:51.738190+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4819","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMN1 were set to ","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-10-07T09:04:26.915050+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4818","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-10-07T09:04:08.279605+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4817","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SMN1.","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-10-07T09:03:56.793299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4817","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7813012; Phenotypes: Spinal muscular atrophy-1, MIM# 253300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-10-07T09:01:30.194176+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BUB1B as ready","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T09:01:30.165801+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1b has been classified as Amber List (Moderate Evidence).","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T09:01:25.888935+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BUB1B as Amber List (moderate evidence)","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T09:01:25.881635+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1b has been classified as Amber List (Moderate Evidence).","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T09:01:17.431065+11:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BUB1B was added\ngene: BUB1B was added to Amenorrhoea. Sources: Literature\nMode of inheritance for gene: BUB1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BUB1B were set to 32716490\nPhenotypes for gene: BUB1B were set to Premature ovarian failure\nReview for gene: BUB1B was set to AMBER\nAdded comment: There is a well established association between bi-allelic variants and mosaic variegated aneuploidy syndrome, MIM#257300\r\n\r\nPMID: 32716490 - Chen et al 2020 - report 2 cases of heterogyzous variants in BUB1B in patients with premature ovarian insufficiency. In the familial case a rare missense variant of BUB1B c.273A>T (p.Gln91His) was shared by all affected individuals. A novel stop-gain variant of BUB1B c.1509T>A (p.Cys503*) was found in one of 200 sporadic POI cases and was found to be paternal in origin. In a mouse model with a loss-of-function mutant of Bub1b, Bub1b+/− female mice presented late-onset subfertility. Complete loss of Bub1b caused embryonic lethality in mice.. \nSources: Literature","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T08:59:43.006443+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4817","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BUB1B as ready","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T08:59:42.997215+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4817","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1b has been classified as Green List (High Evidence).","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T08:56:56.527001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4817","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BUB1B were changed from  to Mosaic variegated aneuploidy syndrome 1, MIM# 257300; Premature ovarian failure","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T08:56:35.651663+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4816","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BUB1B were set to ","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T08:56:03.712224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4815","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BUB1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T08:55:45.374019+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4814","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32716490, 18548531; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM# 257300, Premature ovarian failure; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"BUB1B","entity_type":"gene"},{"created":"2020-10-07T08:50:22.012961+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4814","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROM1 as ready","entity_name":"ROM1","entity_type":"gene"},{"created":"2020-10-07T08:50:21.996450+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4814","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rom1 has been classified as Green List (High Evidence).","entity_name":"ROM1","entity_type":"gene"},{"created":"2020-10-07T08:50:09.827387+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4814","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROM1 were changed from  to Retinitis pigmentosa 7, digenic form, MIM# 608133","entity_name":"ROM1","entity_type":"gene"},{"created":"2020-10-07T08:49:50.389694+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4813","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ROM1 were set to ","entity_name":"ROM1","entity_type":"gene"},{"created":"2020-10-07T08:49:26.183938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4812","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ROM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ROM1","entity_type":"gene"},{"created":"2020-10-07T08:49:06.052243+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4811","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32036094, 8202715, 30630813, 24618324, 20300562; Phenotypes: Retinitis pigmentosa 7, digenic form, MIM# 608133; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ROM1","entity_type":"gene"},{"created":"2020-10-07T08:41:49.450548+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4811","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association supported by case-level data and experimental data, including animal models.","entity_name":"FOXC1","entity_type":"gene"}]}