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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1778",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1776",
"results": [
{
"created": "2020-06-02T18:31:16.315790+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAL1 were set to ",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:30:44.246678+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:30:17.152344+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: DNAL1.",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:30:09.956720+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAL1 as Amber List (moderate evidence)",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:30:09.947497+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:29:36.268298+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported with homozygous missense variant, some functional data.; to: Two Bedouin families reported with same homozygous missense variant (founder), some functional data.",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:29:13.196700+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21496787; Phenotypes: Ciliary dyskinesia, primary, 16, MIM# 614017; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:26:58.232508+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAL1 as ready",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:26:58.223762+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:26:03.132912+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, MIM# 614017",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:25:10.862201+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAL1 were set to ",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:24:27.734709+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:24:00.895513+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAL1 as Amber List (moderate evidence)",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:24:00.884292+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:23:32.258714+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21496787; Phenotypes: Ciliary dyskinesia, primary, 16, MIM# 614017; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:17:22.609689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH8 as ready",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:17:22.596955+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:17:14.447193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH8 were changed from to Asthenozoospermia; primary ciliary dyskinesia",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:16:52.210211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH8 were set to ",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:16:31.163008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:16:10.350714+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH8 as Amber List (moderate evidence)",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:16:10.336998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:15:49.612295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH8: Rating: AMBER; Mode of pathogenicity: None; Publications: 31178125, 24307375; Phenotypes: Asthenozoospermia, primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:04:25.178100+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Heterotaxy is not part of the phenotype of this PCD.; to: Heterotaxy is not part of the phenotype of this PCD in the individuals reported, though note zebrafish model had LR axis abnormalities.",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:03:57.053767+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GAS8: Changed publications: 19043402, 26387594",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:02:15.111558+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS8 as ready",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:02:15.101814+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas8 has been classified as Red List (Low Evidence).",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:02:11.976396+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAS8 were changed from to Ciliary dyskinesia, primary, 33, MIM# 616726",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:01:43.530476+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:01:15.472496+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAS8 as Red List (low evidence)",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:01:15.461683+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas8 has been classified as Red List (Low Evidence).",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:00:46.291238+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAS8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 33, MIM# 616726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2020-06-02T17:59:18.742487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC5 as ready",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-02T17:59:18.733323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc5 has been classified as Green List (High Evidence).",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-02T17:59:08.254764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC5 as Green List (high evidence)",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-02T17:59:08.244844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc5 has been classified as Green List (High Evidence).",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-02T17:58:37.663202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC5 was added\ngene: TTC5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC5 were set to 29302074; 32439809\nPhenotypes for gene: TTC5 were set to Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system\nReview for gene: TTC5 was set to GREEN\nAdded comment: Eleven individuals from seven families reported. \nSources: Literature",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-02T17:56:36.430038+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC5 as ready",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-02T17:56:36.417229+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc5 has been classified as Green List (High Evidence).",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-02T17:56:23.670688+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC5 as Green List (high evidence)",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-02T17:56:23.657552+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc5 has been classified as Green List (High Evidence).",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-02T17:32:02.442522+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2659",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: TTC5 was added\ngene: TTC5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC5 were set to 29302074; 32439809\nPhenotypes for gene: TTC5 were set to Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system\nPenetrance for gene: TTC5 were set to Complete\nReview for gene: TTC5 was set to GREEN\nAdded comment: Hu et al (2019 - PMID: 29302074) reported briefly on 3 individuals from 2 consanguineous families (from Turkey and Iran) with biallelic TTC5 variants. Features included DD (3/3), ID (severe in 2/2 with relevant age), microcephaly (3/3), brain abnormalities, etc. A nonsense and a variant affecting splice site were identified by WES/WGS.\r\n\r\n---\r\n\r\nIn a recent report, Rasheed et al (2020 - PMID: 32439809) report on the phenotype of 8 individuals - belonging to 5 consanguineous families - all 8 harboring homozygous TTC5 mutations.\r\n\r\nFrequent features included hypotonia (6/8), motor and speech delay, moderate to severe ID (10/10 of relevant age - inclusion of less severely affected subjects was not considered by study design), brain MRI abnormalities (8/8). Other findings included microcephaly in some (6/11), behavioral abnormalities in few (autistic behavior in 2/8, aggression in 2/8), genitourinary anomalies (2/8), seizures (1/11). Facial phenotype incl. thin V-shaped upper lip, low-set ears (in most) and/or additional features.\r\n\r\nTTC5 encodes a 440 aa protein, functioning as a scaffold to stabilise p300-JMY interactions. Apart from this role in nucleus, it has functions in the cytoplasm (inhibiting actin nucleataion, autophagosome formation, etc).\r\n\r\nThe gene has ubiquitous expression, highest in brain. \r\n\r\nAll variants were identified following WES - as the best candidates - in affected individuals with compatible Sanger studies in all affected family members and carrier parents.\r\n\r\n2 missense and 2 nonsense variants were identified with the 2 missense SNVs localizing within TPR domains. qRT-PCR studies for a nonsense variant localizing 19 nt before the last exon, revealed fourfold decreased expression in affected individuals compared to carriers.\r\n\r\nFamilies from Egypt shared a homozygous ~6.3 Mb haplotype block spanning TTC5, suggesting that p.(Arg263Ter) is likely a founder mutation.\r\n\r\nThe authors underscore some phenotypic (though not facial) similarities with Rubinstein-Taybi syndrome 2 due to EP300 mutations (in line with the role of TTC5).\r\n\r\nBiallelic variants in genes encoding other members of the TTC family (containing a TPR motif), e.g. TTC8 or TTC15 cause disorders with neurologic manifestations (and DD/ID). \nSources: Literature",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-02T14:29:35.136227+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1C as ready",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-06-02T14:29:35.123134+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-06-02T14:29:31.892949+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732 to Beckwith-Wiedemann syndrome 130650",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-06-02T14:29:19.192143+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKN1C as Amber List (moderate evidence)",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-06-02T14:29:19.182509+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-06-02T14:29:08.502581+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650; Mode of inheritance: None",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-06-02T14:21:06.500715+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS1 as ready",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-06-02T14:21:06.491624+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos1 has been classified as Red List (Low Evidence).",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-06-02T14:19:46.521945+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-02T09:45:42.405305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAD11 as ready",
"entity_name": "ACAD11",
"entity_type": "gene"
},
{
"created": "2020-06-02T09:45:42.392376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acad11 has been classified as Red List (Low Evidence).",
"entity_name": "ACAD11",
"entity_type": "gene"
},
{
"created": "2020-06-02T09:45:33.174550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACAD11 as Red List (low evidence)",
"entity_name": "ACAD11",
"entity_type": "gene"
},
{
"created": "2020-06-02T09:45:33.164662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acad11 has been classified as Red List (Low Evidence).",
"entity_name": "ACAD11",
"entity_type": "gene"
},
{
"created": "2020-06-02T09:45:14.931063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACAD11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ACAD11",
"entity_type": "gene"
},
{
"created": "2020-06-01T22:01:12.433392+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-01T20:37:57.500485+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE1 were changed from long QT syndrome; acquired LQTS to Jervell and Lange-Nielsen syndrome 2, MIM# 612347; Long QT syndrome 5, MIM# 613695; Acquired LQTS",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:37:08.772763+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNE1 as ready",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:37:08.768859+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Rated as MODERATE by ClinGen for bi-allelic disease. Evidence for mono-allelic disease is limited.",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:37:08.738566+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:22:37.306274+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNTA1 as ready",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:22:37.297146+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snta1 has been classified as Red List (Low Evidence).",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:21:59.041189+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12, MIM#\t612955",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:20:15.424045+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNTA1 were set to ",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:19:42.014020+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:19:14.833065+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNTA1 as Red List (low evidence)",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:19:14.824305+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snta1 has been classified as Red List (Low Evidence).",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:18:47.777979+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SNTA1.",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:17:40.822680+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRDN as ready",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:17:40.810930+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trdn has been classified as Green List (High Evidence).",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:17:37.029524+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRDN were set to long QT syndrome",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:17:12.703810+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRDN were changed from PMID: 31983240; 25922419 to Long QT syndrome; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM#\t615441",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:16:07.821313+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRDN as Green List (high evidence)",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:16:07.811808+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trdn has been classified as Green List (High Evidence).",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:15:17.260084+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CALM2 as ready",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:15:17.251452+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calm2 has been classified as Green List (High Evidence).",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:15:11.932114+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CALM2 were changed from long QT syndrome to Long QT syndrome 15, MIM#\t616249",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:14:39.507450+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CALM2 as Green List (high evidence)",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:14:39.493936+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calm2 has been classified as Green List (High Evidence).",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:13:22.508362+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CALM1 as ready",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:13:22.496635+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calm1 has been classified as Green List (High Evidence).",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:13:19.227546+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CALM1 were changed from long QT syndrome to Long QT syndrome 14, MIM#\t616247",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:12:46.228654+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CALM1 as Green List (high evidence)",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:12:46.215489+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calm1 has been classified as Green List (High Evidence).",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:11:46.090424+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN4B as ready",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:11:46.080517+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn4b has been classified as Red List (Low Evidence).",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:11:41.509954+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN4B were changed from to Long QT syndrome 10, MIM#\t611819",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:11:11.721693+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN4B were set to ",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:10:47.654191+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:10:19.771969+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN4B as Red List (low evidence)",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:10:19.762210+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn4b has been classified as Red List (Low Evidence).",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:09:52.027543+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SCN4B.",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:09:32.895050+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-01T20:07:21.432019+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ5 as ready",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:07:21.423637+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:07:04.449087+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ5 were changed from to Long QT syndrome 13, MIM#\t613485",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:05:59.765146+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ5 were set to ",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:05:31.119176+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2020-06-01T20:05:02.547177+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: KCNJ5.",
"entity_name": "KCNJ5",
"entity_type": "gene"
}
]
}