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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1065",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1063",
"results": [
{
"created": "2022-01-04T11:13:23.175924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: folr1 has been classified as Red List (Low Evidence).",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:13:19.444112+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOLR1 were changed from NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:13:11.419145+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.63",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 2 more unrelated probands with ectodermal dysplasia/short stature syndrome. Originally described in PMID: 19415813; to: 2 more unrelated probands with ectodermal dysplasia/short stature syndrome. 1x originally described in PMID: 19415813",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:13:06.489843+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOLR1 were set to ",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:12:43.188500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOLR1 as Red List (low evidence)",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:12:43.172787+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: folr1 has been classified as Red List (Low Evidence).",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:12:32.323044+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.; to: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Not pertinent to fetal panel.",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:12:16.633073+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FOLR1: Changed rating: RED",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:10:51.285765+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1759",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:06:39.884583+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.63",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: GRHL2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:06:30.363136+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.63",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GRHL2: Rating: ; Mode of pathogenicity: None; Publications: 27612988, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:04:28.582555+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1759",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 25152456, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:00:29.347632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10449",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:38:48.384043+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1759",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC25A38 as ready",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:38:48.372357+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1759",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc25a38 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:38:43.260678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1759",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A38 were changed from ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:38:28.914288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1758",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC25A38 were set to ",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:38:12.888938+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1757",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC25A38 as Red List (low evidence)",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:38:12.884236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1757",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Red for fetal anomalies panel as no conclusive detectable fetal presentation",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:38:12.859608+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1757",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc25a38 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:37:11.045985+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1756",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC25A38: Rating: RED; Mode of pathogenicity: None; Publications: 19412178, 31338833; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:14:00.487909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10449",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC17A5 were set to 10581036; 10947946",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:13:33.057329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10448",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33862140; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:11:12.293240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1756",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC17A5 as ready",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:11:12.283808+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1756",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc17a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:11:05.409085+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1756",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC17A5 were changed from SALLA DISEASE; INFANTILE SIALIC ACID STORAGE DISORDER to Sialic acid storage disorder, infantile, MIM#269920; MONDO:0010027",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:10:52.557476+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1755",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC17A5 were set to ",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:10:33.350867+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1754",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33862140, 10581036, 10947946; Phenotypes: Sialic acid storage disorder, infantile, MIM#269920, MONDO:0010027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-01-04T10:06:42.817009+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1754",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100091, 29955957, 32585897; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805, Deafness, autosomal dominant 80, MIM# 619274; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:58:37.388383+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.147",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:58:19.341444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1754",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:57:56.904410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10448",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:41:33.780620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1754",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC12A6 as ready",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:41:33.769086+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1754",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc12a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:41:23.439683+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1754",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A6 were changed from AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:40:51.521062+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1753",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721, 27485015, 16606917, 21628467, 12368912, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:30:28.818628+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1753",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GPKOW: Rating: RED; Mode of pathogenicity: None; Publications: 28612833; Phenotypes: male-lethal microcephaly with intrauterine growth restriction; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:30:24.969133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10448",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: GPKOW was added\ngene: GPKOW was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GPKOW were set to 28612833\nPhenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction\nPenetrance for gene: GPKOW were set to unknown\nReview for gene: GPKOW was set to RED\ngene: GPKOW was marked as current diagnostic\nAdded comment: - multi-generational family with 5 deceased males (only 1 genotyped)\r\n- X-exome sequencing identified NM_015698.4:c.331+5G>A, which segregated through the obligate carriers\r\n- RNA from female carriers confirmed splicing defects, which leads to NMD\r\n\r\nno additional reports since \nSources: Literature",
"entity_name": "GPKOW",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:09:44.121985+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1753",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194, 32655339; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:06:51.129560+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1753",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GNA11: Rating: AMBER; Mode of pathogenicity: Other; Publications: 23802536, 23802516, 24823460, 26818911, 27334330; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM#615361, Hypocalciuric hypercalcemia, type II MIM#145981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-01-04T09:06:14.825954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10448",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23802536, 23802516, 24823460, 26818911, 27334330; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM#615361, Hypocalciuric hypercalcemia, type II MIM#145981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:46:57.001493+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1753",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:HPS1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:46:42.033160+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1752",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:HPRT1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:46:02.331497+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXC13 as ready",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:46:02.319999+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxc13 has been classified as Green List (High Evidence).",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:45:59.837958+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXC13 were changed from Ectodermal dysplasia 9 to Ectodermal dysplasia 9, hair/nail type MIM#614931",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:45:52.034145+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXC13 were set to ",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:45:38.650228+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HOXC13: Added comment: Four unrelated families reported.; Changed publications: 23063621, 23315978, 29278420",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:45:01.805309+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXC13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 9, hair/nail type MIM#614931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:44:44.250104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXC13 as ready",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:44:44.240086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxc13 has been classified as Green List (High Evidence).",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:44:37.451768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXC13 were changed from to Ectodermal dysplasia 9, hair/nail type MIM#614931",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:44:20.238799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXC13 were set to ",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:43:59.747024+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXC13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXC13",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:43:28.139890+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1751",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:HOXC13 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:42:07.368179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1750",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:HLCS from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:41:32.543566+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1749",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:HINT1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:40:45.929352+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1748",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:HAX1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:40:09.117174+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1747",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GRM6 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:38:41.801115+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1746",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GJB2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:38:05.589626+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1745",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GCH1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:37:02.382915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FZD6 as ready",
"entity_name": "FZD6",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:37:02.371951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd6 has been classified as Green List (High Evidence).",
"entity_name": "FZD6",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:36:55.316306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FZD6 were changed from to Nail disorder, nonsyndromic congenital, 1, MIM# 161050",
"entity_name": "FZD6",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:36:36.485415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FZD6 were set to ",
"entity_name": "FZD6",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:36:17.849267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FZD6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FZD6",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:35:59.940179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FZD6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665003, 23374899; Phenotypes: Nail disorder, nonsyndromic congenital, 1, MIM# 161050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FZD6",
"entity_type": "gene"
},
{
"created": "2022-01-04T08:34:23.221072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1744",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FZD6 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:33:22.520046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1743",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FTCD from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:32:26.211538+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1742",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FOXN1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:31:45.731083+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1741",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FHL1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:30:58.963430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1740",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FGD4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T08:29:53.023886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1739",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FAM161A from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-02T09:17:46.254429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:27:05.148757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHTKD1 as ready",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:27:05.134164+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:27:01.548913+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHTKD1 were changed from 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA to 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:26:49.846377+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHTKD1 were set to ",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:26:31.857341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-aminoadipic 2-oxoadipic aciduria MIM#204750, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:21:59.032600+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:20:26.805352+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SIX5.",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:20:07.429080+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SIX5.",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:19:32.935684+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SIX5.",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:19:25.921369+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SIX5.",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:19:12.635925+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX5 as ready",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:19:12.625816+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six5 has been classified as Red List (Low Evidence).",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:19:09.769085+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX5 were changed from BOR2; BRANCHIOOTORENAL SYNDROME 2 to Branchiootorenal syndrome 2, MIM# 610896",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:19:01.475777+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX5 were set to ",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:18:39.390915+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:18:32.577376+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIX5 as Red List (low evidence)",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:18:32.566092+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six5 has been classified as Red List (Low Evidence).",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:18:22.534018+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668; Phenotypes: Branchiootorenal syndrome 2, MIM# 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:17:31.146914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX5 were set to 17357085; 33624842; 20301554; 24730701; 22447252",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:17:10.263939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIX5 as Amber List (moderate evidence)",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:17:10.248815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:16:52.025960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported.; to: Multiple families reported. However, association between SIX5 variants and BOR is DISPUTED by ClinGen: Association has been reported in at least 6 probands in 2 publications (17357085, 24429398), however the reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). This gene-disease association is supported by protein interaction and biochemical function studies (14704431, 17357085, 11950062). While EYA1 and SIX1 gene inactivation in mice leads to ear and kidney abnormalities, two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668). In summary, there is convincing evidence disputing the association between SIX5 and autosomal dominant branchio-oto-renal syndrome.",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:16:37.633689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SIX5: Changed rating: AMBER; Changed publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:16:15.568286+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX5 as ready",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:16:15.558534+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:15:19.873448+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM# 610896",
"entity_name": "SIX5",
"entity_type": "gene"
}
]
}