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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=279",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=277",
"results": [
{
"created": "2025-03-27T16:23:12.933208+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCM7: Changed phenotypes: Syndromic disease, MONDO:0002254, MCM7-related, Meier-Gorlin syndrome, Microcephaly, Intellectual disability, Lipodystrophy, Adrenal insufficiency",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:22:56.252078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM7 were changed from Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency to Syndromic disease, MONDO:0002254, MCM7-related; Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:22:38.773393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCM7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease, MONDO:0002254, MCM7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:18:52.642377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MACROD2 were changed from intellectual disability; dysmorphic features; microcephaly to Syndromic disease, MONDO:0002254, MACROD2-related; intellectual disability; dysmorphic features; microcephaly",
"entity_name": "MACROD2",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:18:34.294075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MACROD2: Changed phenotypes: Syndromic disease, MONDO:0002254, MACROD2-related, intellectual disability, dysmorphic features, microcephaly",
"entity_name": "MACROD2",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:18:14.589355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MACROD2 were changed from Syndromic disease, MONDO:0002254, MACROD2-related to Syndromic disease, MONDO:0002254, MACROD2-related",
"entity_name": "MACROD2",
"entity_type": "gene"
},
{
"created": "2025-03-27T16:17:58.098318+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MACROD2 were changed from no OMIM number yet to Syndromic disease, MONDO:0002254, MACROD2-related",
"entity_name": "MACROD2",
"entity_type": "gene"
},
{
"created": "2025-03-27T15:30:42.249425+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: PEX19 was added\ngene: PEX19 was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX19 were set to 10051604; 20683989; 39757991; 21031596; 30561787; 36931687\nPhenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886; Peroxisome biogenesis disorder MONDO:0019234\nReview for gene: PEX19 was set to GREEN\nAdded comment: Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life.\r\n\r\nFunctional studies and animal models are present.\r\nReported in individuals across at least 4 unrelated families. \nSources: Literature",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-03-27T14:42:21.673806+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families reported, typically presenting with lactatic acidosis and encephalopathy in infancy. SCO1 pathogenic variants were first described in an infant with respiratory distress, metabolic acidosis, hepatic failure, and encephalopathy in the setting of profound complex IV deficiency in muscle and liver. Further reports have shown phenotypic spectrum to include cardiomyopathy, encephalopathy, and lactic acidosis without cardiac or hepatic involvement. Many cases are fatal in the first few months of life. \r\nFunctional studies and model organisms also present.\r\n\r\nClinGen: While various names have been given to the constellation of features seen in those with SCO1-related disease, pathogenic variants in this gene cause a primary mitochondrial disease. Therefore, the SCO1 phenotype has been lumped into one disease entity. \nSources: Literature; to: Six unrelated families reported.\r\nTypically presenting with lactatic acidosis and encephalopathy in infancy. SCO1 pathogenic variants were first described in an infant with respiratory distress, metabolic acidosis, hepatic failure, and encephalopathy in the setting of profound complex IV deficiency in muscle and liver. Further reports have shown phenotypic spectrum to include cardiomyopathy, encephalopathy, and lactic acidosis without cardiac or hepatic involvement. Many cases are fatal in the first few months of life. \r\nFunctional studies and model organisms also present.\r\n\r\nClinGen: While various names have been given to the constellation of features seen in those with SCO1-related disease, pathogenic variants in this gene cause a primary mitochondrial disease. Therefore, the SCO1 phenotype has been lumped into one disease entity. \r\n\r\nPMID: 39214134: 3 cases from 2 unrelated families, with developmental and epileptic encephalopathy, hypopituitarism.",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2025-03-27T14:29:41.326421+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: SCO1 was added\ngene: SCO1 was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCO1 were set to 11013136; 19295170; 31352446; 23878101\nPhenotypes for gene: SCO1 were set to Mitochondrial disease MONDO:0044970; Mitochondrial complex IV deficiency, nuclear type 4 MIM#619048\nReview for gene: SCO1 was set to GREEN\nAdded comment: Four unrelated families reported, typically presenting with lactatic acidosis and encephalopathy in infancy. SCO1 pathogenic variants were first described in an infant with respiratory distress, metabolic acidosis, hepatic failure, and encephalopathy in the setting of profound complex IV deficiency in muscle and liver. Further reports have shown phenotypic spectrum to include cardiomyopathy, encephalopathy, and lactic acidosis without cardiac or hepatic involvement. Many cases are fatal in the first few months of life. \r\nFunctional studies and model organisms also present.\r\n\r\nClinGen: While various names have been given to the constellation of features seen in those with SCO1-related disease, pathogenic variants in this gene cause a primary mitochondrial disease. Therefore, the SCO1 phenotype has been lumped into one disease entity. \nSources: Literature",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2025-03-27T14:09:05.498596+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBM8A were set to 22366785; 17236129; 26550033; 32227665\nPhenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome MIM#274000\nReview for gene: RBM8A was set to AMBER\nAdded comment: The thrombocytopenia-absent radius syndrome (TAR) is characterised by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia. Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee.\r\n\r\nVast majority of cases include a recurrent 200kb deletion on one allele (although truncations are seen) and the presence of 1 of 2 SNPs in trans. The SNPs have a MAF of 3.05% and 0.42%. Cases have been reported with this phenotype without the 200kb deletion (PMID: 22366785, 32227665).\r\n\r\nCurrently, the large CNV in majority of cases would not be detected. \nSources: Literature",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2025-03-27T13:56:35.659562+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: MTPAP was added\ngene: MTPAP was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTPAP were set to 20970105; 33340416; 32376682; 15769737; 31779033; 35235001; 27391121\nPhenotypes for gene: MTPAP were set to Mitochondrial disease MONDO:0044970\nReview for gene: MTPAP was set to GREEN\nAdded comment: Definitive disease-gene classification by ClinGen - \"Identified in five individuals from four publications (PMIDs: 20970105, 31779033, 35235001, 27391121). Supported by a biochemical function (mitochondrial translation) shared with other genes associated with primary mitochondrial disease, early embryonic lethality and failure of developmental progression in a knockout mouse model, and disrupted expression of mitochondrial proteins and mitochondrial dysfunction following gene knockdown in HeLa cells (PMIDs: 33340416, 32376682, 15769737).\"\r\n\r\nNote that 6 individuals with spastic ataxia all had same founder variant and were traced as distantly related (Amish community - c.1432A>G (p.Asn478Asp). \r\nFurther additional families reported with a much more severe phenotype of lethal encephalopathy.\r\n\r\nPhenotypes previous reported to be associated with MTPAP are likely to represent a continuum of severity associated with a mitochondrial disorder. \r\nClingen \"While various names have been given to the constellation of features seen in those with MTPAP-related disease, including autosomal recessive spastic ataxia 4 (SPAX4) (MIM 613672) in additional to other mitochondrial disorders, pathogenic variants in this gene cause a primary mitochondrial disease.... lumped into one disease entity...\" \nSources: Literature",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2025-03-27T13:45:31.401989+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: AGTR1 was added\ngene: AGTR1 was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTR1 were set to 16116425; 22095942\nPhenotypes for gene: AGTR1 were set to Renal tubular dysgenesis MIM#267430\nReview for gene: AGTR1 was set to GREEN\nAdded comment: Severe disorder of renal tubular development characterised by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Can cause stillbirth. Three unrelated families reported for AGTR1 variants.\r\nOther genes associated with this phenotype are included in 1000+. \nSources: Literature",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2025-03-27T12:29:46.360897+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27523608, 27559085, 30796585, 35170849; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MIM#617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2025-03-27T11:51:07.573536+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: PDHX was added\ngene: PDHX was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDHX were set to 20002125; 34873726; 33092611; 30981218; 25087164; 22766002; 12557299; 14518830; 15303005; 16566017; 27343776\nPhenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349; Mitochondrial disease MONDO:0044970\nReview for gene: PDHX was set to GREEN\nAdded comment: Established gene-disease association.\r\nClingen definitive for mitochondrial disease: \"While various names have been given to the constellation of features seen in those with PDHX-related disorders, including pyruvate dehydrogenase complex deficiency or PDCD, pathogenic variants in this gene ultimately cause a primary mitochondrial disease. Therefore, the PDHX phenotype has been lumped into one disease entity according to the ClinGen Lumping and Splitting Framework.\"\r\n\r\nCondition is a metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. \r\n\r\nClingen: Age of onset ranges from the first days of life to later in childhood, with some individuals living well into adulthood. Clinical features in affected individuals include neonatal lactic acidosis, LSS, seizures, spasticity, agenesis of the corpus callosum, cerebral atrophy, vomiting, and optic atrophy.\r\n\r\nNote: \r\nPDHX c.1336C>T (p.Arg446Ter) is a Roma founder variant; \r\nc.1182+2T>C (p.Ile386SerfsTer13) is a Moroccan founder variant. \nSources: Literature",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-03-26T14:15:03.639903+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35F1 were changed from Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome to Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome",
"entity_name": "SLC35F1",
"entity_type": "gene"
},
{
"created": "2025-03-26T14:14:38.451097+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC35F1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated, Rett-like syndrome",
"entity_name": "SLC35F1",
"entity_type": "gene"
},
{
"created": "2025-03-26T14:14:19.701765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35F1 were changed from Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome to Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome",
"entity_name": "SLC35F1",
"entity_type": "gene"
},
{
"created": "2025-03-26T13:37:57.601491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIX5 as Red List (low evidence)",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2025-03-26T13:37:57.595322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2389",
"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": "2025-03-26T13:37:34.628990+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIX5 as Red List (low evidence)",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2025-03-26T13:37:34.622026+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.146",
"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": "2025-03-26T13:10:00.030690+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC30A5 were changed from Perinatal lethal cardiomyopathy to Cardiomyopathy MONDO:0004994, SLC30A5-related; Perinatal lethal cardiomyopathy",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2025-03-26T13:09:39.421433+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC30A5 were changed from Perinatal lethal cardiomyopathy to Cardiomyopathy MONDO:0004994, SLC30A5-related; Perinatal lethal cardiomyopathy",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2025-03-26T13:09:18.385836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC30A5 were changed from Perinatal lethal cardiomyopathy to Cardiomyopathy MONDO:0004994, SLC30A5-related; Perinatal lethal cardiomyopathy",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2025-03-26T13:01:23.824107+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC30A5 were changed from Perinatal lethal cardiomyopathy to Cardiomyopathy MONDO:0004994, SLC30A5-related; Perinatal lethal cardiomyopathy",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2025-03-26T12:58:04.398674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777; Dystonia 9, MIM#601042; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885; GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847 to GLUT1 deficiency syndrome, MONDO:0000188; GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777; Dystonia 9, MIM#601042; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885; GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2025-03-26T10:54:27.931012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2386",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RALGAPB: Rating: RED; Mode of pathogenicity: None; Publications: 35830182; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), RALGAPB-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2025-03-25T21:47:47.204053+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2386",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:36511780 reported the identification of three different heterozygous de novo variants in the CRMP1 gene (p.(Pro589Leu), p.(Thr427Met) & p.(Phe351Ser)) in three unrelated individuals with a neurodevelopmental disorder presenting with muscular hypotonia, intellectual disability, and/or autism spectrum disorder. ID was moderate in two of them, while IQ was normal in one. There is also functional evidence available for these variants. \r\n\r\nPMID:39758889 reported the identification of a novel heterozygous de novo frameshift variant in CRMP1 (p.(Lys586fs)) in a 9-year-old male patient presenting with phenotypes such as autism, language delay, hyperactivity, and learning disabilities. This patient was reported with moderate ID. \r\n\r\nThere are three unrelated cases reported with moderate intellectual disability and with monoallelic CRMP1 variants. However, one patient with a different monoallelic CRMP1 variant had normal IQ. Hence, this gene should be rated amber with current evidence. \nSources: Literature; to: PMID:36511780 reported the identification of three different heterozygous de novo variants in the CRMP1 gene (p.(Pro589Leu), p.(Thr427Met) & p.(Phe351Ser)) in three unrelated individuals with a neurodevelopmental disorder presenting with muscular hypotonia, intellectual disability, and/or autism spectrum disorder. ID was moderate in two of them, while IQ was normal in one. There is also functional evidence available for these variants. \r\n\r\nPMID:39758889 reported the identification of a novel heterozygous de novo frameshift variant in CRMP1 (p.(Lys586fs)) in a 9-year-old male patient presenting with phenotypes such as autism, language delay, hyperactivity, and learning disabilities. This patient was reported with moderate ID. \r\n\r\nSummary: There are three unrelated cases reported with moderate intellectual disability and with monoallelic CRMP1 variants. However, one patient with a different monoallelic CRMP1 variant had normal IQ. Hence, this gene should be rated amber with current evidence. \r\nSources: Literature",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-25T21:47:24.621500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2386",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: CRMP1 was added\ngene: CRMP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CRMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRMP1 were set to 36511780; 39758889\nPhenotypes for gene: CRMP1 were set to neurodevelopmental disorder, MONDO:0700092\nReview for gene: CRMP1 was set to AMBER\nAdded comment: PMID:36511780 reported the identification of three different heterozygous de novo variants in the CRMP1 gene (p.(Pro589Leu), p.(Thr427Met) & p.(Phe351Ser)) in three unrelated individuals with a neurodevelopmental disorder presenting with muscular hypotonia, intellectual disability, and/or autism spectrum disorder. ID was moderate in two of them, while IQ was normal in one. There is also functional evidence available for these variants. \r\n\r\nPMID:39758889 reported the identification of a novel heterozygous de novo frameshift variant in CRMP1 (p.(Lys586fs)) in a 9-year-old male patient presenting with phenotypes such as autism, language delay, hyperactivity, and learning disabilities. This patient was reported with moderate ID. \r\n\r\nThere are three unrelated cases reported with moderate intellectual disability and with monoallelic CRMP1 variants. However, one patient with a different monoallelic CRMP1 variant had normal IQ. Hence, this gene should be rated amber with current evidence. \nSources: Literature",
"entity_name": "CRMP1",
"entity_type": "gene"
},
{
"created": "2025-03-25T21:15:14.091317+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2386",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: GAP43 was added\ngene: GAP43 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GAP43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GAP43 were set to 39738362\nPhenotypes for gene: GAP43 were set to neurodevelopmental disorder, MONDO:0700092\nReview for gene: GAP43 was set to RED\nAdded comment: PMID:39738362 reported the identification of a heterozygous missense variant in the GAP43 gene (p.(Glu146Lys)) in a 15-year-old female patient with moderate intellectual disability, neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities.\r\n\r\nThe variant GAP43 protein was found to be unstable in neuronal cells and the disruption of Gap43 in mouse embryonic cortical neurons impaired axonal elongation and dendrite formation. \nSources: Literature",
"entity_name": "GAP43",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:52:08.677039+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MFRP.",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:50:33.590533+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM161A as ready",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:50:33.584179+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam161a has been classified as Red List (Low Evidence).",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:49:30.387851+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBS as ready",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:49:30.381838+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Amber List (Moderate Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:49:27.515522+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) to Homocystinuria, B6-responsive and nonresponsive types, MIM#236200",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:49:14.913243+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CBS were set to ",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:49:03.204928+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CBS as Amber List (moderate evidence)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:49:03.193559+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Amber List (Moderate Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:48:54.121775+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: classic homocystinuria, MONDO:0009352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:45:47.773232+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:45:47.761626+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Red List (Low Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:44:46.844627+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TMEM94.",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:42:23.655491+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MBTPS1.",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:41:58.912728+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: IGHM.",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:40:48.544805+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: DYNC1I2.",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:39:33.260343+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: B9D1.",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2025-03-25T18:38:43.287573+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ADPRHL2.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:36:36.354523+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNHIT3 as ready",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:36:36.348160+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:36:34.066045+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNHIT3 were changed from PEHO syndrome, 260565 (3), Autosomal recessive to PEHO syndrome MIM#260565",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:36:23.645201+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNHIT3 were set to ",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:36:03.348135+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF335 as ready",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:36:03.339675+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf335 has been classified as Green List (High Evidence).",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:36:00.991762+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF335 were changed from Microcephaly 10, primary, autosomal recessive to Microcephaly 10, primary, autosomal recessive, MIM# 615095",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:35:50.328455+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF335 were set to ",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:35:29.404796+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC3 as ready",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:35:29.383644+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Green List (High Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:35:27.054197+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC3 were changed from Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3) to Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955); Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607); VACTERL association, X-linked, MIM# 314390, MONDO:0010752",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:35:16.966319+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZIC3 were set to ",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:34:52.301419+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB24 as ready",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:34:52.294737+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:34:49.758983+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB24 were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:34:38.800789+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZBTB24 were set to ",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:34:01.902876+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR81 as ready",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:34:01.894467+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr81 has been classified as Green List (High Evidence).",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:33:55.253846+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430; Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:33:44.058211+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR81 were set to ",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:33:20.545073+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR73 as ready",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:33:20.538661+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr73 has been classified as Green List (High Evidence).",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:33:18.156506+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome, 251300 (3) to Galloway-Mowat syndrome 1, MIM# 251300",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:33:07.720146+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR73 were set to ",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:32:35.804607+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS45 as ready",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:32:35.798389+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps45 has been classified as Green List (High Evidence).",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:32:30.513114+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS45 were changed from Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3) to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:32:17.694649+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS45 were set to ",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:31:56.086539+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13B as ready",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:31:56.076930+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13b has been classified as Green List (High Evidence).",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:31:53.514059+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13B were changed from Cohen syndrome, 216550 (3) to Cohen syndrome, MIM# 216550",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:31:43.498754+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS13B were set to ",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:31:07.134550+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VARS2 as ready",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:31:07.128515+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vars2 has been classified as Green List (High Evidence).",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:31:04.747832+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VARS2 were changed from Combined oxidative phosphorylation deficiency 20, 615917 (3) to Combined oxidative phosphorylation deficiency 20 MIM#615917",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:30:32.837370+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VARS2 were set to ",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:29:29.970704+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USH2A as ready",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:29:29.963738+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ush2a has been classified as Green List (High Evidence).",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:29:27.261866+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USH2A were changed from Usher syndrome, type 2A, 276901 (3) to Usher syndrome, type 2A, MIM#276901",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:29:17.476685+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USH2A were set to ",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:28:49.415617+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UFM1 as ready",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:28:49.405709+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Green List (High Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:28:45.843770+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive to Leukodystrophy, hypomyelinating, 14, MIM#617899",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:28:30.401783+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UFM1 were set to ",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:27:25.141886+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYMP as ready",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:27:25.135761+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tymp has been classified as Green List (High Evidence).",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:27:21.358718+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:27:10.326075+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYMP were set to ",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:26:11.581811+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC7A as ready",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:26:11.575151+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc7a has been classified as Green List (High Evidence).",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2025-03-24T17:26:04.345248+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) to Gastrointestinal defects and immunodeficiency syndrome MIM#243150",
"entity_name": "TTC7A",
"entity_type": "gene"
}
]
}