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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1777",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1775",
"results": [
{
"created": "2020-06-03T17:52:36.279271+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:52:01.611086+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS33B were set to ",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:50:09.582088+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:49:16.987345+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALX4 as ready",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:49:16.978477+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alx4 has been classified as Green List (High Evidence).",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:10:07.174007+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HUWE1 as ready",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:10:07.160463+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: huwe1 has been classified as Green List (High Evidence).",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:00:56.835784+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type MIM#309590",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:56:55.338202+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:54:48.377556+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29180823; Phenotypes: Mental retardation, X-linked syndromic, Turner type MIM#309590; 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": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:23:17.019843+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FGF9 as ready",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:23:17.011579+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:22:49.613162+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FGF9 were changed from to Multiple synostoses syndrome 3 MIM#612961",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:21:15.507241+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:20:09.593034+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FGF9 as Amber List (moderate evidence)",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:20:09.584022+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:19:31.722471+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: None; Publications: 19219044, 28730625; Phenotypes: Multiple synostoses syndrome 3 MIM#612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:04:30.530799+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CDC45 as ready",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:04:30.518091+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cdc45 has been classified as Green List (High Evidence).",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-06-03T16:03:45.306577+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CDC45 were changed from to Meier-Gorlin syndrome 7 MIM#617063",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:59:02.811856+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CDC45 were set to ",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:58:28.747667+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDC45 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:57:56.881612+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDC45 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:57:36.081777+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDC45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:57:05.254465+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CDC45: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:56:53.912390+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374770; Phenotypes: Meier-Gorlin syndrome 7 MIM#617063; Mode of inheritance: None",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:52:34.619726+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALX4 as Green List (high evidence)",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:52:34.610953+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: alx4 has been classified as Green List (High Evidence).",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:51:55.503136+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALX4 was added\ngene: ALX4 was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ALX4 were set to 19692347; 29215649; 22829454\nPhenotypes for gene: ALX4 were set to Frontonasal dysplasia 2 MIM#613451; Parietal foramina 2 MIM#609597\nReview for gene: ALX4 was set to GREEN\nAdded comment: Craniosynostosis has been reported in 2 cases with monoallelic likely LoF variants and as a feature of a syndromic condition in 2 consanguineous families with homozygous LoF variants. 2 putative gain of function missense variants were identified in 2 probands with non-syndromic craniosynostosis, but were also identified in unaffected parents. \nSources: Expert list",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:47:39.824889+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.49",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240160, 31777725, 24415890, 15052268; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:45:10.828280+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.10",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31020160, 22589293, 26322597; Phenotypes: Andersen Tawil syndrome, LQTS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T15:05:01.865644+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.10",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "changed review comment from: not curated by ClinGen as at 03/05/2020\r\nGreen in PanelApp GEL\r\n\r\nHomozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected. Functional studies on the variants identified in these families support a deleterious effect. Variants reported in the orgiginal gene discovery papers are either no present, or present at very low frequency (2 or less) in GnomAD/Exac.; to: not curated by ClinGen as at 03/05/2020\r\nGreen in PanelApp GEL\r\n\r\nHomozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected, although there is at least 1 report of a multi-generation family with affected heterozygotes (PMID: 27157848) - this variant is absent from Gnomad as at 03/06/2020). Functional studies on the variants identified in these families support a deleterious effect. Variants reported in the original gene discovery papers are either no present, or present at very low frequency (2 or less) in GnomAD/Exac.",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T14:49:48.843482+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.10",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "changed review comment from: not curated by ClinGen as at 03/05/2020\r\nGreen in PanelApp GEL\r\n\r\nHomozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected. Functional studies on the variants identified in these families support a deleterious effect.; to: not curated by ClinGen as at 03/05/2020\r\nGreen in PanelApp GEL\r\n\r\nHomozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected. Functional studies on the variants identified in these families support a deleterious effect. Variants reported in the orgiginal gene discovery papers are either no present, or present at very low frequency (2 or less) in GnomAD/Exac.",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T14:06:30.524929+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.49",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623388, 31885220; Phenotypes: Wieacker-Wolff syndrome (MIM#314580); 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": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2020-06-03T12:46:07.752235+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.10",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: OMID: 611938, 611938; Phenotypes: CPVT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T12:31:42.272240+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.10",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "edited their review of gene: CALM2: Changed publications: PMID: 31170290; Changed phenotypes: LQTS, sudden unexplained death, idopathic VF",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2020-06-03T12:30:56.366595+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.10",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "changed review comment from: Not assessed by ClinGen as at 03.05.2020.\r\nGreen in PanelApp GEL\r\n\r\nPathogenic and likely pathogenic CALM 1, 2 and 3 variants have been asscoiated with CPVT, LQTS and Idopathic VF (incldundg sudden unexplained death) in a review paper formt he CALM registry (PMID: 31170290). For CPVT at least:\r\n - 7 families have been reported with one of 2 CALM1 P/LP variants, both variants caused overlapping phenotype of LQTS, CPVT and/or SUD\r\n - 8 families have been reported with one of 4 CALM2 P/LP variants, 3 of which caused overlapping phenotype of LQTS, CPVT and/or SUD\r\n - 2 families have been reported with one of 2 CALM3 P/LP variants, both of which caused CPVT exclusively.\r\n\r\nCalmodulin is an essential calcium-sensing, signal-transducing protein. Three calmodulin genes, CALM1, CALM2 and CALM3, have unique nucleotide sequences but encode identical 149-amino acid calmodulin proteins with 4 EF-hand calcium-binding loops. (OMIM: https://omim.org/entry/114180?search=CALM1&highlight=calm1#7, accessed 03.05.2020); to: Not assessed by ClinGen as at 03.05.2020.\r\nGreen in PanelApp GEL\r\n\r\nPathogenic and likely pathogenic CALM 1, 2 and 3 variants have been asscoiated with CPVT, LQTS and Idopathic VF (incldundg sudden unexplained death) in a review paper formt he CALM registry (PMID: 31170290). For CPVT at least:\r\n - 7 families have been reported with one of 2 CALM1 P/LP variants, both variants caused overlapping phenotype of LQTS, CPVT and/or SUD\r\n - 8 families have been reported with one of 4 CALM2 P/LP variants, 3 of which caused overlapping phenotype of LQTS, CPVT and/or SUD\r\n - 2 families have been reported with one of 2 CALM3 P/LP variants, both of which caused CPVT exclusively.\r\n\r\nCalmodulin is an essential calcium-sensing, signal-transducing protein. Three calmodulin genes, CALM1, CALM2 and CALM3, have unique nucleotide sequences but encode identical 149-amino acid calmodulin proteins with 4 EF-hand calcium-binding loops. (OMIM: https://omim.org/entry/114180?search=CALM1&highlight=calm1#7, accessed 03.05.2020)",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2020-06-03T12:30:39.379222+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.10",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31170290; Phenotypes: LQTS, idiopathic VF, sudden unexplained death; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2020-06-03T12:28:23.884991+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.10",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "commented on gene: CALM2",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2020-06-03T12:25:59.620184+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.10",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31170290; Phenotypes: CPVT, LQTS, idiopathic VF; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2020-06-03T10:29:41.529801+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.113",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23022101, 23849777, 28441829, 31116566; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#608647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2020-06-03T10:17:22.373529+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.103",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HYDIN: Rating: RED; Mode of pathogenicity: None; Publications: 23022101, 23849777; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#08647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2020-06-03T10:01:29.003902+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.448",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: MT-CO3 was added\ngene: MT-CO3 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL\nPublications for gene: MT-CO3 were set to 20525945; 9634511; 11063732; 12414820\nPhenotypes for gene: MT-CO3 were set to Leigh syndrome; Leigh-like syndrome; Myopathy; Encephalopathy and myopathy\nReview for gene: MT-CO3 was set to GREEN\ngene: MT-CO3 was marked as current diagnostic\nAdded comment: Reported in at least 3 unrelated families (PMIDs: 20525945, 9634511, 11063732, 12414820). \nSources: Literature",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2020-06-03T09:59:00.729874+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.103",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: LRRC56 was added\ngene: LRRC56 was added to Heterotaxy. Sources: Expert list\nMode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC56 were set to PMID: 30388400\nPhenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39\t618254\nReview for gene: LRRC56 was set to GREEN\nAdded comment: PMID: 30388400 - 3 unrelated families reported with either homozygous splice, missense or chet (nonsense/splice). All patients had dextrocardia, atrial situs inversus and abdominal/thoracic situs inversus \nSources: Expert list",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-06-03T09:49:49.218513+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.103",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: LZTFL1 was added\ngene: LZTFL1 was added to Heterotaxy. Sources: Expert Review\nMode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LZTFL1 were set to 22510444; 23692385; 27312011; 22072986\nPhenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 (MIM#615994)\nReview for gene: LZTFL1 was set to AMBER\nAdded comment: Only 1 family of the 2 currently reported presented with situs invertus\r\n\r\nPMID: 22510444; Marion 2012: Hom variant reported in BBS family, presenting with situs invertus. Supporting functional studies performed. Variant not present in gnomad\r\n\r\nPMID: 23692385; Schaefer 2014: Compound heterozygous variants reported in twins with BBS, with supporting functional studies. Situs invertus not reported. Variants not in gnomAD at unexpected frquencies.\r\n\r\nPMID: 27312011; Jiang 2016: Knockout mice model showed retinal defects and differences in weight compared to wild-type mice.\r\n\r\nPMID: 22072986; Seo 2011: LZTFL1 interacts with BBS protein complex and is an important regulator of BBSome ciliary trafficking \nSources: Expert Review",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2020-06-03T09:48:10.432584+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.28",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011, 22072986; Phenotypes: Bardet-Biedl syndrome 17 (MIM#615994); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:56:06.848503+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPN14 were set to ",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:55:34.898271+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN11 as ready",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:55:34.894247+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: No evidence for association between germline variants and vascular malformations.",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:55:34.861297+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Red List (Low Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:54:48.335868+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R2 as ready",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:54:48.326731+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r2 has been classified as Red List (Low Evidence).",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:54:29.139043+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:54:29.126780+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Red List (Low Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:54:08.236534+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRAS as ready",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:54:08.228166+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nras has been classified as Red List (Low Evidence).",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:53:47.619748+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTOR as ready",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:53:47.610735+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtor has been classified as Red List (Low Evidence).",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:53:09.360247+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP3K3 as ready",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:53:09.351342+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map3k3 has been classified as Red List (Low Evidence).",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:52:49.200143+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K1 as ready",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:52:49.191440+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Red List (Low Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:52:32.713915+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRAS as ready",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:52:32.705220+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kras has been classified as Red List (Low Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:52:17.384737+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRAS as ready",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:52:17.374364+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hras has been classified as Red List (Low Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:52:02.589208+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAQ as ready",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:52:02.576560+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnaq has been classified as Red List (Low Evidence).",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:51:45.192560+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNA14 as ready",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:51:45.179791+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gna14 has been classified as Red List (Low Evidence).",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:51:18.808220+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNA11 as ready",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:51:18.797273+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gna11 has been classified as Red List (Low Evidence).",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:51:12.797830+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GNA11 was changed from to Other",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:51:06.768169+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNA11 was changed from to Other",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:50:36.232188+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAF as ready",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:50:36.220083+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: braf has been classified as Red List (Low Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:50:10.258168+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT1 as ready",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:50:10.245825+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt1 has been classified as Red List (Low Evidence).",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:49:47.147742+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDR as ready",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:49:47.138966+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdr has been classified as Amber List (Moderate Evidence).",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:48:35.618780+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELMO2 as ready",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:48:35.610404+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmo2 has been classified as Green List (High Evidence).",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:48:32.638080+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELMO2 were set to ",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:46:05.911425+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS1 as ready",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:46:05.905883+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Somatic variants in Rasopathy genes have been associated with vascular malformations.",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:46:05.863860+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.89",
"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": "2020-06-02T18:45:41.264609+10:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: SOS1.",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:34:19.448758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAL1 as ready",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:34:19.439888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2996",
"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": "2020-06-02T18:34:10.731060+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2996",
"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": "2020-06-02T18:33:50.690745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAL1 were set to ",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:33:31.562437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2994",
"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": "2020-06-02T18:33:12.778838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAL1 as Amber List (moderate evidence)",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:33:12.766081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2993",
"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": "2020-06-02T18:32:50.402204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: DNAL1.",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:32:38.245522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2992",
"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": "2020-06-02T18:32:06.054077+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: DNAL1.",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:31:46.488586+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAL1 as ready",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2020-06-02T18:31:46.479200+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.103",
"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": "2020-06-02T18:31:44.041728+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.103",
"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"
}
]
}