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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1078",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1076",
"results": [
{
"created": "2021-12-20T10:54:53.681984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGA: Changed publications: 1703489, 1904874, 8064811, 8946839",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:54:47.083241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGA as ready",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:54:47.073813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aga has been classified as Red List (Low Evidence).",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:54:42.001058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGA were set to ",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:54:21.239125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. Multiple families and mouse model.; to: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive ID. Multiple families and mouse model.",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:53:51.098281+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGA were changed from ASPARTYLGLUCOSAMINURIA to Aspartylglucosaminuria, MIM#208400",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:53:32.605139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is a prominent feature of this metabolic disorder.; to: Progressive metabolic disorder with features becoming more prominent over time.",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:52:55.542797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGA: Changed rating: RED",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:50:22.484016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AFF2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:50:09.221417+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFF2 as ready",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:50:09.208676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aff2 has been classified as Red List (Low Evidence).",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:50:05.300627+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFF2 were changed from FRAGILE X-E MENTAL RETARDATION SYNDROME to Mental retardation, X-linked, FRAXE type 309548",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:49:53.179140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFF2 were set to ",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:49:38.030732+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: AFF2.\nTag STR tag was added to gene: AFF2.",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:49:19.431393+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar. Missense variants found to be over-represented in an autism cohort.; to: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar. Missense variants found to be over-represented in an autism cohort.\r\n\r\nCongenital anomalies are not a prominent feature of this disorder.",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:49:01.112823+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AFF2: Changed rating: RED",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:48:06.411850+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADA as ready",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:48:06.399851+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada has been classified as Red List (Low Evidence).",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:48:02.729122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADA were changed from ADENOSINE DEAMINASE DEFICIENCY to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:47:47.055658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADA: Changed phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:47:24.853996+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:46:20.712131+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1450",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5 (MIM#259720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:45:58.675731+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACVRL1 as ready",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:45:58.665404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:45:54.220967+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACVRL1 were set to ",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:45:42.026785+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:41:12.214129+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:40:53.147164+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACVRL1 as Green List (high evidence)",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:40:53.135077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:40:41.359058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: There is debate about when AVMs form and whether they are congenital or not. However, at least one report identified of antenatal presentation with Vein of Galen malformation.; to: There is debate about when AVMs form and whether they are congenital or not. However, neonatal presentations reported, and at least one report identified of antenatal presentation with Vein of Galen malformation.",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:40:26.778134+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACVRL1: Changed rating: GREEN; Changed publications: 32170914, 26126400, 21988128",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:39:55.062583+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Typically presents post-natally.; to: There is debate about when AVMs form and whether they are congenital or not. However, at least one report identified of antenatal presentation with Vein of Galen malformation.",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:39:14.714749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACVRL1: Changed rating: AMBER; Changed publications: 32170914, 26126400",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:36:44.981592+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:35:48.986595+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:35:15.533658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAT1 as ready",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:35:15.522810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Green List (High Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:35:14.304001+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria\tMIM#203750; Deficiency of acetyl-CoA acetyltransferase to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:34:38.091591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAT1 were changed from to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:34:20.905994+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:34:04.469884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750, Beta-ketothiolase deficiency MONDO:0008760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:32:32.017534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.; to: Primarily manifests as metabolic decompensation post-natally.",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:32:18.114464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACAT1: Changed rating: RED",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:31:34.024087+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:31:14.966043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADS as ready",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:31:14.952554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acads has been classified as Green List (High Evidence).",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:31:06.785174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:30:43.134812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:30:22.501826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:30:05.988524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:29:08.703594+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:28:23.830845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADM as ready",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:28:23.818515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:28:16.507239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:27:56.544779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:27:33.684676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:26:48.497932+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:25:45.409031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD1 as ready",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:25:45.395285+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Red List (Low Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:25:41.672338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD1 were changed from ADRENOLEUKODYSTROPHY, X-LINKED to Adrenoleukodystrophy, MIM# 300100",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:25:24.515088+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:24:58.233616+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1445",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:23:57.390213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC8 as ready",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:23:57.375221+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc8 has been classified as Red List (Low Evidence).",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:23:53.484154+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial 256450 to Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:23:40.815762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:23:26.507483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:21:30.849893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB7 as ready",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:21:30.839144+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb7 has been classified as Red List (Low Evidence).",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:21:14.168342+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB7 were changed from ANEMIA, SIDEROBLASTIC, WITH ATAXIA to Anaemia, sideroblastic, with ataxia, MIM# 301310",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:20:55.109133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:19:51.447885+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB11 as ready",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:19:51.438927+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb11 has been classified as Red List (Low Evidence).",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:19:47.468496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB11 were changed from ABCB11-RELATED INTRAHEPATIC CHOLESTASIS to Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:19:33.599653+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:17:41.560270+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).; to: Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).\r\n\r\nMost reports are of neonatal cholangitis.",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:16:14.330553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCDC2 as ready",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:16:14.317324+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:16:10.213158+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCDC2 were changed from RENAL-HEPATIC CILIOPATHY to Nephronophthisis 19, MIM# 616217",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:15:58.808507+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCDC2 were set to ",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:13:11.069085+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP4F22 as ready",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:13:11.058353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp4f22 has been classified as Red List (Low Evidence).",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:12:30.827902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1439",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20727516, 32240828, 29192239, 28386946; Phenotypes: Pseudo-TORCH syndrome 1 (MIM#251290); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:12:00.382709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:11:40.954463+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP4F22 as Red List (low evidence)",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:11:40.942974+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp4f22 has been classified as Red List (Low Evidence).",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:11:29.102176+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP4F22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:09:33.130792+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1437",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2 (MIM#612921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2021-12-20T10:05:44.740836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1437",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982452; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2021-12-20T09:55:36.568264+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1437",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31513305; Phenotypes: 46, XX sex reversal 4 (MIM#617480), 46XY sex reversal 3 (MIM#612965); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2021-12-20T09:47:03.817112+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1437",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 7951319, 23384712; Phenotypes: 46XY sex reversal 2, dosage-sensitive (MIM#300018), Adrenal hypoplasia, congenital (MIM#300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2021-12-20T09:39:48.795433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1437",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2021-12-20T09:08:41.358673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1437",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: None; Publications: 7951319, 23384712; Phenotypes: 46XY sex reversal 2, dosage-sensitive (MIM#300018), Adrenal hypoplasia, congenital (MIM#300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2021-12-19T18:53:56.343378+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP26B1 as ready",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2021-12-19T18:53:56.332850+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp26b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2021-12-19T18:53:50.721916+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP26B1 were changed from Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2021-12-19T18:53:19.342676+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP26B1 were set to ",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2021-12-19T18:52:59.767485+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP26B1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2021-12-19T18:52:37.392403+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP26B1 as Green List (high evidence)",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2021-12-19T18:52:37.382921+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp26b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP26B1",
"entity_type": "gene"
}
]
}