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{
"count": 221277,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1046",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1044",
"results": [
{
"created": "2022-01-15T19:18:54.409151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHDDS as Red List (low evidence)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-01-15T19:18:54.398987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Red List (Low Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-01-15T19:18:43.659657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five unrelated individuals reported with mono-allelic variants and a neurodevelopmental phenotype. \nSources: Expert list; to: Five unrelated individuals reported with mono-allelic variants and a neurodevelopmental phenotype. However, presentation is post-natal.\r\nSources: Expert list",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-01-15T19:18:17.516295+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHDDS: Changed rating: RED",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-01-15T19:17:02.495771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DENND5A as ready",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2022-01-15T19:17:02.485982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5a has been classified as Green List (High Evidence).",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2022-01-15T19:16:51.564706+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DENND5A were set to ",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2022-01-15T19:16:39.973997+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DENND5A as Green List (high evidence)",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2022-01-15T19:16:39.963862+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5a has been classified as Green List (High Evidence).",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:38:38.847253+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX6 as ready",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:38:38.836020+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx6 has been classified as Green List (High Evidence).",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:37:03.133186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX6 were changed from INTELLECTUAL DISABILITY to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:36:47.776742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX6 were set to ",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:36:37.154693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:36:26.718969+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX6 as Green List (high evidence)",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:36:26.708623+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx6 has been classified as Green List (High Evidence).",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:36:15.626083+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences. \nSources: Literature; to: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.\r\n\r\nMultiple congenital anomalies.\r\n\r\nSources: Literature",
"entity_name": "DDX6",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:35:16.708070+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX59 as ready",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:35:16.696040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx59 has been classified as Green List (High Evidence).",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:35:12.623593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX59 were set to ",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:35:01.073400+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX59 as Green List (high evidence)",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:35:01.060554+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx59 has been classified as Green List (High Evidence).",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:34:44.195884+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 unrelated families reported, renal involvement is not prominent.; to: 5 unrelated families reported, multiple congenital anomalies.",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2022-01-15T13:34:30.568334+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDX59: Changed rating: GREEN",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:27:01.300371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYLS1 as ready",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:27:01.288897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyls1 has been classified as Green List (High Evidence).",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:26:57.139028+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HYLS1 were changed from HYDROLETHALUS SYNDROME TYPE 1 to Hydrolethalus syndrome (MIM#236680); Ciliopathy",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:26:45.341048+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HYLS1 were set to ",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:26:26.780228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: HYLS1.",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:26:15.483879+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: A recurring homozygous missense variant p.Asp211Gly has been identified in at least 64 cases of hydrolethalus syndrome, described as a Finnish founder mutation (PMID: 15843405, PMID: 18648327). Functional studies in human and patient cells have shown mislocalisation of the protein to the nucleus (PMID: 15843405, PMID: 19400947). Functional studies in c. elegans showed that this variant impaired ciliogenesis (PMID: 19656802). Functional studies in drosophila showed that deletion of HYLS1 led to cilia dysfunction (PMID: 32509774). 2 homozygous living siblings (stop-loss, extension variant p.Ter300TyrextTer11) both diagnosed with Joubert syndrome. Patients had molar tooth signs and dysplasia of cerebellar vermis (PMID: 26830932). No other variants have been reported as pathogenic in this gene. Amber rating given only single founder variant reported with a hydrocephalus phenotype with supporting functional data from multiple animal models indicative of ciliopathy.; to: A recurring homozygous missense variant p.Asp211Gly has been identified in at least 64 cases of hydrolethalus syndrome, described as a Finnish founder mutation (PMID: 15843405, PMID: 18648327). Functional studies in human and patient cells have shown mislocalisation of the protein to the nucleus (PMID: 15843405, PMID: 19400947). Functional studies in c. elegans showed that this variant impaired ciliogenesis (PMID: 19656802). Functional studies in drosophila showed that deletion of HYLS1 led to cilia dysfunction (PMID: 32509774). 2 homozygous living siblings (stop-loss, extension variant p.Ter300TyrextTer11) both diagnosed with Joubert syndrome. Patients had molar tooth signs and dysplasia of cerebellar vermis (PMID: 26830932). No other variants have been reported as pathogenic in this gene. \r\n\r\nOverall, sufficient evidence that variants in this gene cause a ciliopathy.",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:25:52.362757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HYLS1: Changed phenotypes: Hydrolethalus syndrome (MIM#236680), Ciliopathy",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:25:40.097844+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HYLS1: Changed rating: GREEN",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:24:34.639322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HUWE1 as ready",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:24:34.627086+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: huwe1 has been classified as Green List (High Evidence).",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:24:31.266254+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HUWE1 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE to Mental retardation, X-linked syndromic, Turner type, MIM#309590",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:23:57.742057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:23:45.756138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Females variably affected, ranging from asymptomatic carriers to fully manifesting the condition (particularly with de novo variants).; to: IUGR, joint contractures, microcephaly/macrocephaly are features.",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:22:26.374588+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPG2 as ready",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:22:26.364259+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspg2 has been classified as Green List (High Evidence).",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:22:10.174565+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID reported in ~25% of affected individuals.; to: Multiple congenital anomalies are a feature of both conditions.",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:21:51.367391+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HSPG2: Changed phenotypes: Schwartz-Jampel syndrome, type 1, MIM#255800, Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:19:11.806623+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B4 as ready",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:19:11.795700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:19:08.269434+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B4 were changed from PERRAULT SYNDROME; D-BIFUNCTIONAL PROTEIN DEFICIENCY to D-bifunctional protein deficiency, AR (MIM#261515)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:18:54.669071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD17B4 were set to ",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:18:40.865858+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HSD17B4: Changed phenotypes: D-bifunctional protein deficiency, AR (MIM#261515)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:18:32.883883+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.; to: DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nCortical dysplasia, renal cysts are reported features.",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:17:07.099246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRAS as ready",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:17:07.087761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hras has been classified as Green List (High Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:17:02.054988+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HRAS were changed from CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES; COSTELLO SYNDROME to Costello syndrome, MIM# 218040",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:16:49.288665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HRAS were set to 28425981",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:16:33.169935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: HRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:15:55.460838+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:15:43.194471+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, over 100 affected individuals reported with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability. Facial warts, particularly nasolabial, are often present in childhood.; to: Well established gene-disease association, over 100 affected individuals reported with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability.",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:15:09.403337+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA13 as ready",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:15:09.390954+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa13 has been classified as Green List (High Evidence).",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:15:05.918796+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA13 were changed from HAND-FOOT-GENITAL SYNDROME to Hand-foot-uterus syndrome, MIM# 140000",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:14:52.234394+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:14:03.450887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIVEP2 as ready",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:14:03.439532+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hivep2 has been classified as Green List (High Evidence).",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:13:59.232435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIVEP2 were changed from HIVEP2 associated syndromic developmental delay with intellectual disability to Mental retardation, autosomal dominant 43, MIM# 616977",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:13:46.138874+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIVEP2 were set to ",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:13:32.110818+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIVEP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2022-01-15T09:13:17.389271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated individuals reported, most variants are LOF, supportive mouse model.; to: More than 10 unrelated individuals reported, most variants are LOF, supportive mouse model.\r\n\r\nMicrocephaly and CC abnormalities reported in some.",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:02:18.230959+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC8 as ready",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:02:18.221935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac8 has been classified as Green List (High Evidence).",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:02:13.073718+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC8 were changed from WILSON-TURNER SYNDROME; CORNELIA DE LANGE-LIKE SYNDROME to Cornelia de Lange syndrome 5, MIM# 300882",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:01:57.789339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HDAC8 were set to ",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:01:43.623006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HDAC8: Changed rating: GREEN",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:01:35.487029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: In a recent series of 246 individuals from diverse populations, congenital diaphragmatic hernia was not a common feature of HDAC8-related CdL.; to: Multiple congenital anomalies are a feature.",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:00:44.806745+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCFC1 as ready",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:00:44.796273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Green List (High Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:00:41.099424+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCFC1 were changed from COBALAMIN DISORDER; MENTAL RETARDATION, X-LINKED 3 to Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:00:27.552431+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCFC1 were set to ",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-01-14T18:00:13.405114+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in the HCFC1 gene are associated with cases of syndromic and non-syndromic intellectual disability. Individuals present with severely delayed psychomotor development apparent in infancy, and severe neurological involvement including intractable epilepsy, facial dysmorphism, and intellectual disability.; to: Variants in the HCFC1 gene are associated with cases of syndromic and non-syndromic intellectual disability. Individuals present with severely delayed psychomotor development apparent in infancy, and severe neurological involvement including intractable epilepsy, facial dysmorphism, and intellectual disability.\r\n\r\nMicrocephaly is a feature.",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:59:13.510273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCCS as ready",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:59:13.499433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hccs has been classified as Green List (High Evidence).",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:59:07.851913+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCCS were changed from MICROPHTHALMIA SYNDROMIC TYPE 7 to Linear skin defects with multiple congenital anomalies 1, MIM# 309801",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:58:50.586662+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Diaphragmatic hernia is a recognised feature.; to: Multiple congenital anomalies.",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:33:36.304956+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2239",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SCUBE3 as Green List (high evidence)",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:33:36.295966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2239",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Green List (High Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:33:35.219387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2239",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SCUBE3 as Green List (high evidence)",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:33:35.208267+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2239",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Green List (High Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:33:25.799205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2238",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SCUBE3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33308444; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, OMIM # 619184; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:31:13.565992+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2238",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SCYL1 as Red List (low evidence)",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:31:13.553797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2238",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: scyl1 has been classified as Red List (Low Evidence).",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:30:50.642802+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2237",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SCYL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:29:31.184192+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2237",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SHANK2 as Red List (low evidence)",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:29:31.175020+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2237",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: shank2 has been classified as Red List (Low Evidence).",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:29:20.739916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2236",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SHANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:26:23.648776+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUSB as ready",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:26:23.637285+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gusb has been classified as Green List (High Evidence).",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:26:19.763423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUSB were changed from MUCOPOLYSACCHARIDOSIS TYPE 7 to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:25:11.371377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCY2C as ready",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:25:11.361167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gucy2c has been classified as Green List (High Evidence).",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:25:09.193871+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2235",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SHROOM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32621286; Phenotypes: Anencephaly, cleft lip and palate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:25:00.447333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCY2C were changed from to Diarrhoea 6, MIM# 614616; Meconium ileus, MIM# 614665",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:24:39.509754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUCY2C were set to ",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:24:14.344183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUCY2C was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-01-14T17:23:53.953436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 22436048, 25994218, 30353760, 28957388, 22521417, 33883099, 31079856; Phenotypes: Diarrhoea 6, MIM# 614616, Meconium ileus, MIM# 614665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GUCY2C",
"entity_type": "gene"
}
]
}