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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1420",
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"results": [
{
"created": "2021-02-06T14:31:51.448584+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC39A14 as Green List (high evidence)",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:31:51.440262+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a14 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:31:26.243999+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC39A14 was added\ngene: SLC39A14 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A14 were set to 27231142; 29685658\nPhenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM#\t617013\nReview for gene: SLC39A14 was set to GREEN\nAdded comment: Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit.\r\n\r\nMore than 5 unrelated families reported. \nSources: Expert list",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:28:29.588225+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A4 as ready",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:28:29.580224+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:28:25.461828+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC39A4 as Green List (high evidence)",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:28:25.451961+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:28:15.600800+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC39A4 was added\ngene: SLC39A4 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A4 were set to 27604308; 12068297\nPhenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica MIM#201100; (Disorder of zinc metabolism)\nReview for gene: SLC39A4 was set to GREEN\nAdded comment: More than 3 unrelated families reported. \nSources: Expert list",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:25:36.412978+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC46A1 as ready",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:25:36.395513+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc46a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:25:31.014718+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC46A1 were changed from to Folate malabsorption, hereditary, MIM# 229050",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:25:02.586290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC46A1 were set to ",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:24:27.580823+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC46A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:23:55.498781+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17446347, 17129779, 21333572; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:23:01.803511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC46A1 as ready",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:23:01.788614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc46a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:22:51.995473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC46A1 were changed from to Folate malabsorption, hereditary, MIM# 229050",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:22:32.831494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC46A1 were set to ",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:22:13.208396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC46A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:21:25.357818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system. More than 5 unrelated families reported.; to: Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhoea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system. More than 5 unrelated families reported.",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:21:13.638182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17446347, 17129779, 21333572; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:20:18.156739+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC46A1 as ready",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:20:18.144123+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc46a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:20:13.305149+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC46A1 as Green List (high evidence)",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:20:13.297024+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc46a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:20:03.764723+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC46A1 was added\ngene: SLC46A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC46A1 were set to 17446347; 17129779; 21333572\nPhenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM#\t229050\nReview for gene: SLC46A1 was set to GREEN\nAdded comment: Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system.\r\n\r\nMore than 5 unrelated families reported. \nSources: Expert list",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:16:45.804431+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A1 as ready",
"entity_name": "SLC5A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:16:45.793395+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:16:42.280129+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC5A1 as Green List (high evidence)",
"entity_name": "SLC5A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:16:42.270133+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T14:16:30.655459+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A1 was added\ngene: SLC5A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A1 were set to 27604308; 2008213; 8195156; 20486940\nPhenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption MIM# 606824; (Disorders of glucose transport)\nReview for gene: SLC5A1 was set to GREEN\nAdded comment: At least 3 unrelated families reported, presentation is with osmotic diarrhoea. \nSources: Expert list",
"entity_name": "SLC5A1",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:04:35.151327+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A6 as ready",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:04:35.139196+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:04:32.993457+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC5A6 were changed from SLC5A6-related Neurodevelopmental Disorder to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:04:19.681223+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC5A6 as Green List (high evidence)",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:04:19.673544+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:04:07.882294+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC5A6: Changed phenotypes: Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:03:43.455010+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A6 was added\ngene: SLC5A6 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A6 were set to 29669219; 23104561; 31754459; 27904971; 31392107\nPhenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder\nReview for gene: SLC5A6 was set to GREEN\nAdded comment: At least 5 variants published in three unrelated famililies (4 cases total) with SLC5A6-related Neurodevelopmental Disorder, together with supportive functional studies (PMID 29669219; 23104561). One of the cases had mixed semiology seizures including focal dyscognitive, absence, tonic spasms and generalised convulsive seizures with electrographic features of encephalopathy with generalised and independent multifocal spike-wave discharges (PMID 31754459), another case had brain, immune, bone and intestinal dysfunction (PMID 27904971) and the third had metabolic dysfunction mimicking biotinidase deficiency (PMID 31392107). This condition could be treated with biotin supplementation and introduction of pantothenic acid supplementation (PMID 31392107). \nSources: Expert list",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:00:22.469874+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A19 as ready",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:00:22.458177+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:00:11.295730+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A19 as Green List (high evidence)",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2021-02-06T13:00:11.287557+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:59:58.744095+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A19 was added\ngene: SLC6A19 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A19 were set to Hartnup disorder, MIM#\t234500; Hyperglycinuria, MIM#\t138500; Iminoglycinuria, MIM# 242600\nReview for gene: SLC6A19 was set to GREEN\nAdded comment: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis.\r\n\r\nHyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) \nSources: Expert list",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:52:01.257188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST3GAL3 as ready",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:52:01.245517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal3 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:51:53.948274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ST3GAL3 were changed from to Mental retardation, autosomal recessive 12 MIM# 611090",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:51:33.367689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST3GAL3 were set to ",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:50:56.946420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:50:32.113028+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23252400, 21907012, 31584066; Phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:49:02.291787+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST3GAL3 were set to 23252400; 21907012",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:48:27.267493+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ST3GAL3 as Green List (high evidence)",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:48:27.256557+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal3 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:47:56.649469+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31584066; Phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:44:03.489912+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:44:03.482206+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:43:59.742722+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TREX1 as Green List (high evidence)",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:43:59.733124+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:43:46.511538+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM#\t225750; Disorder of nucleotide metabolism\nReview for gene: TREX1 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:38:30.222217+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX58 were set to 25620203",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:38:06.810888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDX58: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:37:51.742007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDX58: Changed publications: 25620203, 30574673, 33495304",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:37:28.186351+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX58 were set to 25620203; 33495304",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:37:06.416708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DDX58 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:36:59.476342+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DDX58 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:35:48.821848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX58 were set to 25620203",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:35:30.779966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DDX58 was changed from to Other",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:35:11.880787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDX58: Added comment: Prasov et al. 2021 (PMID: 33495304) - A heterozygous DDX58 variant (c.1529A>T) was identified in 5 individuals from 2 unrelated families from different ethnic backgrounds. Phenotypes varied with some being severely affected by systemic features and others solely with glaucoma.Functional analysis demonstrated the variant confers a dominant gain-of-function effect on interferon activity.; Changed mode of pathogenicity: Other; Changed publications: 25620203, 33495304",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:33:39.736123+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX58 as Green List (high evidence)",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T12:33:39.728165+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx58 has been classified as Green List (High Evidence).",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:53:18.690276+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MCEE as ready",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:53:18.679580+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mcee has been classified as Green List (High Evidence).",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:53:15.112383+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MCEE as Green List (high evidence)",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:53:15.091850+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mcee has been classified as Green List (High Evidence).",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:53:05.400537+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.210",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MCEE was added\ngene: MCEE was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCEE were set to 27604308; 16752391; 32521958; 31146325; 32719376; 30682498\nPhenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency MIM#251120; Organic acidurias\nReview for gene: MCEE was set to GREEN\ngene: MCEE was marked as current diagnostic\nAdded comment: Over 10 cases with biallelic variants reported. Methylmalonic acidemia is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid and peptide metabolism. \nSources: NHS GMS",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:39:18.737948+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MCCC2 as ready",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:39:18.727357+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Green List (High Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:39:16.080016+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MCCC2 as Green List (high evidence)",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:39:16.071987+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Green List (High Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:39:02.367167+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MCCC2 was added\ngene: MCCC2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCCC2 were set to 27604308; 11181649\nPhenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Organic acidurias\nReview for gene: MCCC2 was set to GREEN\ngene: MCCC2 was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)y is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of leucine metabolism. \nSources: NHS GMS",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:36:23.053595+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MCCC1 as ready",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:36:23.039756+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mccc1 has been classified as Green List (High Evidence).",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:36:14.686342+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MCCC1 as Green List (high evidence)",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:36:14.678741+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mccc1 has been classified as Green List (High Evidence).",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:36:02.199099+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.206",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MCCC1 was added\ngene: MCCC1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCCC1 were set to 27604308; 11170888\nPhenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias\nReview for gene: MCCC1 was set to GREEN\ngene: MCCC1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)y is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of leucine metabolism. \nSources: NHS GMS",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:29:29.139218+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MAT1A as ready",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:29:29.129854+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mat1a has been classified as Green List (High Evidence).",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:29:24.708951+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MAT1A as Green List (high evidence)",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:29:24.698663+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mat1a has been classified as Green List (High Evidence).",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2021-02-06T10:29:13.735626+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAT1A was added\ngene: MAT1A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: MAT1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MAT1A were set to 27604308; 7560086\nPhenotypes for gene: MAT1A were set to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids\nReview for gene: MAT1A was set to GREEN\ngene: MAT1A was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). Methionine adenosyltransferase deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of methionine metabolism. \nSources: NHS GMS",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2021-02-05T22:19:07.179010+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.0",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25620203, 30574673, 33495304; Phenotypes: Singleton-Merten syndrome 2, OMIM:616298; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DDX58",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:46:28.462199+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LMBRD1 as ready",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:46:28.452463+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmbrd1 has been classified as Green List (High Evidence).",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:46:21.553955+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LMBRD1 as Green List (high evidence)",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:46:21.543018+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmbrd1 has been classified as Green List (High Evidence).",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:46:12.544609+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.202",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMBRD1 was added\ngene: LMBRD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMBRD1 were set to 19136951; 27604308\nPhenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type MIM#277380; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: LMBRD1 was set to GREEN\ngene: LMBRD1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Methylmalonic aciduria and homocystinuria is a disorder of cobalamin metabolism. \nSources: NHS GMS",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:17:52.759940+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 1671786, 12777476, 1883393 - 6 cases from 2 unrelated French Canadian families with hepatic lipase deficiency and compound heterozygous variants.\r\nPMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet\r\nPMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays \nSources: NHS GMS; to: PMID: 1671786, 12777476, 1883393, 22798447 - 7 cases from 3 unrelated families with hepatic lipase deficiency and biallelic variants.\r\nPMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet\r\nPMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays \r\nSources: NHS GMS",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:17:05.067113+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: LIPC: Changed publications: 1671786, 12777476, 1883393, 23219720, 26423094, 22464213, 22798447",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:14:32.329167+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LIPC as ready",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:14:32.321425+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lipc has been classified as Green List (High Evidence).",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:14:09.291700+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LIPC as Green List (high evidence)",
"entity_name": "LIPC",
"entity_type": "gene"
}
]
}