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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1913",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1911",
"results": [
{
"created": "2020-03-03T11:53:57.800662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1590",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273969, 22106055, 19701948, 26752331, 28166369; Phenotypes: Cornelia de Lange syndrome 2 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-03-03T11:40:18.074047+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.325",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: LOXHD1: Changed publications: 19732867, 25792669",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2020-03-03T11:34:33.602120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1590",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-03-03T11:31:41.474079+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.325",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732867; Phenotypes: Deafness, autosomal recessive 77 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2020-03-03T11:31:02.566372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1590",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25211237; Phenotypes: ?Cataract 41, Deafness, autosomal dominant 6/14/38, Wolfram syndrome 1, Wolfram-like syndrome, autosomal dominant, {Diabetes mellitus, noninsulin-dependent, association with}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-03-03T11:04:56.016420+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.22",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PIEZO2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30941898; Phenotypes: Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-03-03T09:35:02.634100+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TCIRG1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-02T18:32:22.134728+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VARS as ready",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:32:22.121410+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vars has been classified as Green List (High Evidence).",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:32:13.686529+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VARS were set to ",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:31:55.501300+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:31:26.447196+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VARS were changed from to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:31:13.654748+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VARS as ready",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:31:13.643508+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vars has been classified as Green List (High Evidence).",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:30:49.714034+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VARS were set to ",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:30:47.469265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, OMIM #617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:29:54.239400+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:29:40.868473+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T18:28:51.016886+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, OMIM #617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:34:44.725926+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT6A as ready",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:34:44.712649+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt6a has been classified as Green List (High Evidence).",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:34:15.749528+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT6A were changed from to Pachyonychia congenita 3 (MIM#615726)",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:33:51.220328+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT6A were set to ",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:33:28.621524+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRT6A was changed from to Other",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:33:06.333217+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:32:24.253990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT6A as ready",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:32:24.241086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt6a has been classified as Green List (High Evidence).",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:32:06.136748+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT6A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21326300; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:31:12.039360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRT6A was changed from Other to Other",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:30:36.063281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT6A were changed from to Pachyonychia congenita 3 (MIM#615726)",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:30:16.426525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT6A were set to ",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:29:59.732376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRT6A was changed from to Other",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:29:02.596690+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:28:04.820829+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICD2 as ready",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:28:04.814773+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Arthrogryposis is a feature in some affected individuals.",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:28:04.767818+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Green List (High Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:27:48.184790+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BICD2 as Green List (high evidence)",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:27:48.176242+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Green List (High Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:49:45.837803+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.21",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: BICD2 was added\ngene: BICD2 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BICD2 were set to PMID: 28635954; 27751653\nPhenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant\t615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291\nPenetrance for gene: BICD2 were set to Incomplete\nReview for gene: BICD2 was set to GREEN\nAdded comment: OMIM describes an established pathogenic variant (p.T703M) as inherited from an unaffected parent - has 2 hets in gnomAD\r\n\r\nRequested for entry to this gene list following VPC - found several papers noting patient w/ Arthrogryposis \nSources: Literature",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:42:09.078789+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNL4A as ready",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:42:09.065812+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Red List (Low Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:42:00.889452+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNL4A were changed from to Burn-McKeown syndrome, MIM# 608572",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:40:43.856440+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TXNL4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:40:13.190859+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TXNL4A as Red List (low evidence)",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:40:13.181990+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Red List (Low Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:39:39.756120+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TXNL4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Burn-McKeown syndrome, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:33:59.137042+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP4 as ready",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:33:59.127766+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:33:53.206761+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBGCP4 as Amber List (moderate evidence)",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:33:53.193774+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:33:09.891414+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBGCP4 was added\ngene: TUBGCP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP4 were set to 25817018\nPhenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335\nReview for gene: TUBGCP4 was set to AMBER\nAdded comment: Three unrelated families reported; ID described as mild. \nSources: Expert list",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:22:09.916273+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA8 as ready",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:22:09.900114+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:22:03.145417+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:21:20.186160+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA8 were set to ",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:20:41.351036+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:20:12.557031+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Red List (low evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:20:12.543511+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:19:38.016931+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:18:32.901833+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA8 were set to 31481326; 19896110",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:18:08.254127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Red List (low evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:18:08.241343+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:17:37.324323+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBA8: Added comment: However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).; Changed rating: RED; Changed publications: 31481326, 19896110, 28388629",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:11:26.196196+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA8 as ready",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:11:26.186481+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:11:15.007338+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:09:55.255156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA8 as ready",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:09:55.242131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:04:52.831877+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:04:38.138181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA8 were set to ",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:04:23.126861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:04:12.777846+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA8 were set to ",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:04:08.168538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Red List (low evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:04:08.159931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:03:46.999746+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:03:24.079335+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Red List (low evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:03:24.065642+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:02:55.479168+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:02:06.054254+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:01:17.769836+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA8 as ready",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:01:17.760818+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:01:12.421930+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:01:04.539275+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:00:36.477754+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA8 were set to ",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T15:00:09.129160+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:59:45.026918+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA8 were set to ",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:59:17.058208+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:58:50.563026+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Red List (low evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:58:50.549975+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:57:59.624612+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:54:56.421387+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Red List (low evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:54:56.412394+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:54:25.137106+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:54:18.610654+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:52:48.509205+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA8 were set to ",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:52:16.848238+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:50:43.458807+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA8 as Red List (low evidence)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:50:43.449731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:50:10.097346+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:07:24.326867+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSHR as ready",
"entity_name": "TSHR",
"entity_type": "gene"
}
]
}