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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1212",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1210",
"results": [
{
"created": "2021-09-15T19:02:30.121654+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.103",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NLRP1 as Green List (high evidence)",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2021-09-15T19:02:30.111022+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.103",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nlrp1 has been classified as Green List (High Evidence).",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2021-09-15T19:02:02.404809+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.102",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NLRP1 was added\ngene: NLRP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: NLRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NLRP1 were set to PMID: 27662089\nPhenotypes for gene: NLRP1 were set to Palmoplantar carcinoma, multiple self-healing, OMIM # 615225\nReview for gene: NLRP1 was set to GREEN\nAdded comment: Multiple self-healing palmoplantar carcinoma (MSPC) is characterised by recurrent keratoacanthomas in palmoplantar skin and conjunctival and corneal epithelia. Patients experience a high susceptibility to malignant squamous cell carcinoma.\r\n\r\nZhong et al. (2016) reported 3 families with variants in NLRP1\r\na) Affected mother and son with MSPC from a Caucasian French family. Whole exome sequencing (+ Sanger sequencing) identified a heterozygous missense mutation in NLRP1 gene (M77T), that appeared de novo in the mother and segregated with disease in the family. The variant was not found in 672 controls or 61 exome-sequenced subjects' DNA.\r\nb) Large 5-generation Tunisian family segregating autosomal dominant MSPC. Whole exome sequencing identified a heterozygous missense mutation in exon 1 of NLRP1 gene (A54T), that segregated with disease in 16 family members. \r\nc) 4-generation kindred with MSPC. Sanger sequencing of NLRP1 exon 1 identified heterozygosity for a missense mutation (A66V, that segregated with disease in the family. \r\nd) 2 sibs in a consanguineous family with features of MSPC, with homozygous in-frame deletion in NLRP1 gene.\r\nFunctional analysis demonstrated that all 3 MSPC-associated missense mutations are gain-of-function variants that cause increased inflammasome activation. \nSources: Literature",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2021-09-15T18:43:59.535530+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.101",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SMARCAD1 as Green List (high evidence)",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2021-09-15T18:43:59.525163+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.101",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: smarcad1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2021-09-15T18:43:30.903979+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.100",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SMARCAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29409814; Phenotypes: Huriez syndrome, OMIM #181600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2021-09-15T18:33:55.285129+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.100",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: COL14A1 was added\ngene: COL14A1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: COL14A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL14A1 were set to PMID: 22972947\nPhenotypes for gene: COL14A1 were set to Punctate palmoplantar keratoderma type 1B\nReview for gene: COL14A1 was set to RED\nAdded comment: 4 affected individuals and 2 unaffected controls from one Chinese PPPK family where disease locus was mapped at 8q24.13-8q24.21 by previous linkage analysis. Exome sequencing analysis identified a heterozygous variant in COL14A1 gene (c.4505C>T (p.Pro1502Leu)). The variant was shared by 4 affected individuals, but not 2 controls of the family. Sanger sequencing confirmed this variant in another four cases from this family. Variant was absent in the normal controls of this family as well as 676 unrelated normal controls and 781 patients with other disease. The missense substitution occurs at a highly conserved amino acid residue across multiple species. \nSources: Literature",
"entity_name": "COL14A1",
"entity_type": "gene"
},
{
"created": "2021-09-15T15:00:49.026152+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPO as ready",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2021-09-15T15:00:49.015967+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epo has been classified as Green List (High Evidence).",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2021-09-15T15:00:44.145583+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPO as Green List (high evidence)",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2021-09-15T15:00:44.135718+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epo has been classified as Green List (High Evidence).",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2021-09-15T15:00:34.975000+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPO was added\ngene: EPO was added to Red cell disorders. Sources: Expert list\nMode of inheritance for gene: EPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPO were set to 27651169; 29514032; 32130275; 20700488; 30507031; 28283061\nPhenotypes for gene: EPO were set to Erythrocytosis, familial, 5, MIM#\t617907; Diamond-Blackfan anaemia-like, MIM#\t617911\nReview for gene: EPO was set to GREEN\nAdded comment: More than 5 unrelated families reported, though note one paper has been retracted.\r\n\r\nSingle family with bi-allelic variants and a DBA phenotype. \nSources: Expert list",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:51:39.223310+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPAS1 as ready",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:51:39.212467+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epas1 has been classified as Green List (High Evidence).",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:51:33.248357+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPAS1 as Green List (high evidence)",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:51:33.239356+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epas1 has been classified as Green List (High Evidence).",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:51:24.198001+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPAS1 was added\ngene: EPAS1 was added to Red cell disorders. Sources: Expert list\nMode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPAS1 were set to 18184961; 18378852; 22367913; 18650473\nPhenotypes for gene: EPAS1 were set to Erythrocytosis, familial, 4, MIM#\t611783\nMode of pathogenicity for gene: EPAS1 was set to Other\nReview for gene: EPAS1 was set to GREEN\nAdded comment: Most mutations are gain-of-function missense variants in exon 12, but variants in exon 9 have also been described, in association with paraganglioma. \nSources: Expert list",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:49:11.380457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EGLN1 as ready",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:49:11.370995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: egln1 has been classified as Green List (High Evidence).",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:47:38.580683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EGLN1 were changed from to Erythrocytosis, familial, 3, MIM# 609820",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:47:20.114339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EGLN1 were set to ",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:47:03.575152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EGLN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:46:41.374577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EGLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19092153, 16407130, 17579185; Phenotypes: Erythrocytosis, familial, 3, MIM# 609820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:45:49.256603+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EGLN1 as ready",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:45:49.246541+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: egln1 has been classified as Green List (High Evidence).",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:45:40.660698+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EGLN1 as Green List (high evidence)",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:45:40.649032+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: egln1 has been classified as Green List (High Evidence).",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:45:32.757489+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EGLN1 was added\ngene: EGLN1 was added to Red cell disorders. Sources: Expert list\nMode of inheritance for gene: EGLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EGLN1 were set to 19092153; 16407130; 17579185\nPhenotypes for gene: EGLN1 were set to Erythrocytosis, familial, 3, MIM#\t609820\nReview for gene: EGLN1 was set to GREEN\nAdded comment: At least 3 unrelated families reported. \nSources: Expert list",
"entity_name": "EGLN1",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:43:56.580562+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BPGM as ready",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:43:56.570862+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bpgm has been classified as Amber List (Moderate Evidence).",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:43:49.261182+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BPGM as Amber List (moderate evidence)",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:43:49.250654+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bpgm has been classified as Amber List (Moderate Evidence).",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2021-09-15T14:43:40.690933+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BPGM was added\ngene: BPGM was added to Red cell disorders. Sources: Expert list\nMode of inheritance for gene: BPGM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BPGM were set to 1421379; 27651169; 25015942\nPhenotypes for gene: BPGM were set to Erythrocytosis, familial, 8, MIM#\t222800\nReview for gene: BPGM was set to AMBER\nAdded comment: Mixture of mono-allelic and bi-allelic variants reported, MOI uncertain. \nSources: Expert list",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2021-09-15T10:40:03.200961+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD21 were set to 31334757",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-09-15T01:38:55.166075+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RAD21: Rating: ; Mode of pathogenicity: None; Publications: 32696056; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-09-14T20:52:34.789325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR2 as ready",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-09-14T20:52:34.779191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr2 has been classified as Green List (High Evidence).",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-09-14T20:52:25.076461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM#\t207410; Apert syndrome, MIM#\t101200; Beare-Stevenson cutis gyrata syndrome, MIM#\t123790; Bent bone dysplasia syndrome, MIM#\t614592; Craniofacial-skeletal-dermatologic dysplasia, MIM#\t101600; Craniosynostosis, nonspecific; Crouzon syndrome\t, MIM#123500; Jackson-Weiss syndrome,MIM#\t123150; LADD syndrome, MIM#\t149730; Pfeiffer syndrome,MIM#\t101600; Saethre-Chotzen syndrome\t101400",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-09-14T20:49:05.161519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGFR2 were set to ",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-09-14T20:48:42.129181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-09-14T20:47:37.685714+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A1 as ready",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T20:47:37.675514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T20:47:28.394597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A1 were changed from to Cryohydrocytosis MIM# 185020; Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590; Ovalocytosis, SA type MIM# 166900; Spherocytosis, type 4 MIM# 612653; Distal renal tubular acidosis 1 MIM# 179800",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T20:47:05.299013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC4A1 were set to ",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T20:46:45.724155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC4A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T16:59:26.889221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9147",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29848297, 32879300, 27323706; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-09-14T16:04:59.344902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9147",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16227998, 15211439, 7949112, 8640229, 16227998, 8640229, 16227998, 33881640, 32632909; Phenotypes: Cryohydrocytosis MIM# 185020, Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590, Ovalocytosis, SA type MIM# 166900, Spherocytosis, type 4 MIM# 612653, Distal renal tubular acidosis 1 MIM# 179800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:58:47.241395+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRNT1 as ready",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:58:47.231081+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trnt1 has been classified as Green List (High Evidence).",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:58:44.894400+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRNT1 were changed from sideroblastic anaemia; 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay to Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:58:33.601914+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRNT1 were set to ",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:58:20.587944+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25193871, 23553769, 29170023, 27389523; Phenotypes: Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:56:33.800096+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STEAP3 as ready",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:56:33.790714+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: steap3 has been classified as Red List (Low Evidence).",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:56:31.532550+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STEAP3 were changed from 615234 ?Anemia, hypochromic microcytic, with iron overload 2 to Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:56:16.991955+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STEAP3 were set to 22031863",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:56:01.097206+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STEAP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:55:47.386522+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STEAP3 as Red List (low evidence)",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:55:47.376736+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: steap3 has been classified as Red List (Low Evidence).",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:55:32.463333+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STEAP3: Rating: RED; Mode of pathogenicity: None; Publications: 22031863, 25515317, 26675350; Phenotypes: Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:54:38.341253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STEAP3 were changed from Anemia, hypochromic microcytic, with iron overload 2, MIM# 615234 to Anaemia, hypochromic microcytic, with iron overload 2, MIM# 615234",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:54:19.531848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STEAP3 were set to 22031863; 25515317",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:53:58.224321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STEAP3 as Red List (low evidence)",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:53:58.212849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: steap3 has been classified as Red List (Low Evidence).",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:53:41.076933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported. Three affected sibs, variant inherited from unaffected father. Some supportive functional evidence.; to: Single family reported. Three affected sibs, variant inherited from unaffected father. Some supportive functional evidence.\r\n\r\nConflicting evidence (PMID 26675350): Large Chinese study (of normal and α-thalassemia subjects) investigated the prevalence of STEAP3 mutations in humans and their physiologic consequences. Discovered a relatively high prevalence of potentially harmful recessive alleles. However, whilst the identified STEAP3 mutations exhibited impaired ferrireductase activity in vitro, they had little or no effect on erythrocyte phenotypes",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:53:18.504788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STEAP3: Changed rating: RED; Changed publications: 22031863, 25515317, 26675350; Changed phenotypes: Anaemia, hypochromic microcytic, with iron overload 2, MIM# 615234",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:52:34.708962+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STEAP3 as ready",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:52:34.698861+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: steap3 has been classified as Red List (Low Evidence).",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:52:31.789978+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STEAP3 were changed from hypochromic anaemia to Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:52:21.933952+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STEAP3 were set to ",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:52:11.718971+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STEAP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:52:04.945590+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STEAP3 as Red List (low evidence)",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:52:04.931710+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: steap3 has been classified as Red List (Low Evidence).",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:50:32.527416+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGK1 as ready",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:50:32.518529+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgk1 has been classified as Green List (High Evidence).",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:50:30.171581+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGK1 were changed from 300653 Phosphoglycerate kinase 1 deficiency to Phosphoglycerate kinase 1 deficiency MIM# 300653",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:50:20.745241+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGK1 were set to 16740138; 6412025",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:50:11.438768+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PGK1 as Green List (high evidence)",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:50:11.428442+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgk1 has been classified as Green List (High Evidence).",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:48:30.117958+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS2 as ready",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:48:30.108611+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:48:27.775724+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARS2 were changed from hydrops/sideroblastic anaemia to Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:48:18.353913+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LARS2 were set to ",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:48:10.109277+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:46:05.408566+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A1 as ready",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:46:05.397599+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:46:01.652006+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A1 were changed from 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis; RBC membrane abnormality; 166900 Ovalocytosis, SA type; Haemolytic Anemia; Cryohydrocytosis,185020; 612653 Spherocytosis, type 4; Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653 to Cryohydrocytosis MIM# 185020; Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590; Ovalocytosis, SA type MIM# 166900; Spherocytosis, type 4 MIM# 612653",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:45:48.817819+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC4A1 were set to 1722314",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T15:45:01.498372+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:12:20.276702+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.128",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: STEAP3: Rating: RED; Mode of pathogenicity: None; Publications: 22031863, 25515317, 26675350; Phenotypes: Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-09-14T13:30:16.040647+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.128",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28580215, 20151463; Phenotypes: Phosphoglycerate kinase 1 deficiency MIM# 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T12:00:52.974002+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.128",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2021-09-14T11:21:50.667716+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.128",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16227998, 15211439, 10926824, 7949112, 16392641, 8640229, 16227998, 8640229, 16227998; Phenotypes: Cryohydrocytosis MIM# 185020, Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590, Ovalocytosis, SA type MIM# 166900, Spherocytosis, type 4 MIM# 612653; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:58:59.885074+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL26 as ready",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:58:59.872187+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Red List (Low Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:58:51.721809+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL26 were changed from Diamond-Blackfan anemia 11, MIM# 614900 to Diamond-Blackfan anaemia 11, MIM# 614900",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:58:44.779349+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL26 were changed from ?Diamond-Blackfan anemia 11, 614900; 614900 ?Diamond-Blackfan anemia 11 to Diamond-Blackfan anemia 11, MIM# 614900",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:58:33.504541+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL26 as Red List (low evidence)",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:58:33.492638+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Red List (Low Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:58:17.889219+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL15 as ready",
"entity_name": "RPL15",
"entity_type": "gene"
}
]
}