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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1551",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1549",
"results": [
{
"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"
},
{
"created": "2020-10-07T08:41:08.060554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXC1 as ready",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:41:08.052526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc1 has been classified as Green List (High Evidence).",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:40:58.274854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXC1 were changed from to Axenfeld-Rieger syndrome, type 3, MIM# 602482",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:40:41.854091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXC1 were set to ",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:40:17.892775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:39:59.388064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9792859, 10713890, 19668217; Phenotypes: Axenfeld-Rieger syndrome, type 3, MIM# 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:37:12.354565+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.62",
"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"
}
]
}