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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=643",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=641",
"results": [
{
"created": "2023-01-25T14:12:33.266088+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA12 as ready",
"entity_name": "CA12",
"entity_type": "gene"
},
{
"created": "2023-01-25T14:12:33.253061+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca12 has been classified as Green List (High Evidence).",
"entity_name": "CA12",
"entity_type": "gene"
},
{
"created": "2023-01-25T14:12:04.639799+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CA12 as Green List (high evidence)",
"entity_name": "CA12",
"entity_type": "gene"
},
{
"created": "2023-01-25T14:12:04.616369+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca12 has been classified as Green List (High Evidence).",
"entity_name": "CA12",
"entity_type": "gene"
},
{
"created": "2023-01-25T14:11:52.081708+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA12 was added\ngene: CA12 was added to gNBS. Sources: Expert Review\ntreatable, metabolic tags were added to gene: CA12.\nMode of inheritance for gene: CA12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA12 were set to Hyperchlorhidrosis, isolated MIM#143860\nReview for gene: CA12 was set to GREEN\nAdded comment: Glu143Lys found in 4 Israeli Bedouin families. 2 other unrelated families reported with 1 missense (LoF demonstrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD).\r\n\r\nExcessive salt wasting in sweat can result in severe infantile hyponatraemic dehydration and hyperkalaemia.\r\n\r\nTreatment: sodium chloride supplementation \nSources: Expert Review",
"entity_name": "CA12",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:59:28.375784+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AICDA as ready",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:59:28.358409+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aicda has been classified as Green List (High Evidence).",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:59:23.108381+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AICDA as Green List (high evidence)",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:59:23.094934+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aicda has been classified as Green List (High Evidence).",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:59:08.922121+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AICDA was added\ngene: AICDA was added to gNBS. Sources: Expert Review\ntreatable, immunological tags were added to gene: AICDA.\nMode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AICDA were set to Immunodeficiency with hyper-IgM, type 2, MIM#\t605258\nReview for gene: AICDA was set to GREEN\nAdded comment: Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. Well established gene-disease association.\r\n\r\nSevere, congenital disorder.\r\n\r\nTreatment: immunoglobulin replacement therapy.\r\n\r\nConfirmatory testing: antibody levels. \nSources: Expert Review",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:56:34.488534+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGPAT2 as ready",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:56:34.473107+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agpat2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:56:28.903752+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGPAT2 as Amber List (moderate evidence)",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:56:28.888011+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agpat2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:56:17.522868+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGPAT2 was added\ngene: AGPAT2 was added to gNBS. Sources: Expert list\nfor review, treatable, endocrine tags were added to gene: AGPAT2.\nMode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGPAT2 were set to 29704234\nPhenotypes for gene: AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, MIM#\t608594\nReview for gene: AGPAT2 was set to AMBER\nAdded comment: Established gene-disease association.\r\n\r\nCongenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia.\r\n\r\nLeptin replacement therapy (metreleptin) has been found to improve metabolic parameters in many patients with lipodystrophy. Metreleptin is approved in the United States as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy and has been submitted for approval elsewhere.\r\n\r\nFor review regarding availability and use of treatment locally. \nSources: Expert list",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:25:03.400500+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTSL4 were changed from Ectopia lentis et pupillae\tMIM#225200 to Ectopia lentis et pupillae\tMIM#225200; Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:23:29.920689+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTSL4 were set to 22871183; 20702823",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:22:56.010597+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTSL4 as Green List (high evidence)",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:22:55.974210+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl4 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2023-01-25T13:10:05.186661+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.0",
"user_name": "Himanshu Goel",
"item_type": "entity",
"text": "gene: BRIP1 was added\ngene: BRIP1 was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRIP1 were set to 16116423\nPhenotypes for gene: BRIP1 were set to Fanconi Anaemia\nPenetrance for gene: BRIP1 were set to Complete\nMode of pathogenicity for gene: BRIP1 was set to Other\nReview for gene: BRIP1 was set to GREEN\ngene: BRIP1 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2023-01-25T10:54:41.601224+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.42",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35378950, 28642162; Phenotypes: Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:10:49.432313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LY96 as ready",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:10:49.399482+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ly96 has been classified as Red List (Low Evidence).",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:10:39.088359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LY96 was added\ngene: LY96 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: LY96 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LY96 were set to 36462957\nPhenotypes for gene: LY96 were set to Inborn error of immunity, MONDO:0003778, LY96-related\nReview for gene: LY96 was set to RED\nAdded comment: Single individual with infantile colitis associated with failure-to-thrive, bloody diarrhoea, and perianal abscesses since the age of 4 months. Later developed bronchiectasis and persistent pneumonia, which required lobectomy at the age of 6 years. Found to have homozygous inflame deletion. Brother with same deletion presented with recurrent otitis media and pneumonia but exhibited no signs of intestinal inflammation. \nSources: Expert Review",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:08:58.410360+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LY96 as ready",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:08:58.397446+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ly96 has been classified as Red List (Low Evidence).",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:08:48.254724+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LY96 were changed from Colitis to Inborn error of immunity, MONDO:0003778, LY96-related; Colitis",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:07:31.542209+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LY96 as Red List (low evidence)",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:07:31.530363+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ly96 has been classified as Red List (Low Evidence).",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:06:45.780631+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LY96: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, LY96-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:04:05.356136+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC22A5 as ready",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:04:05.343261+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:04:02.544591+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC22A5 were changed from HCM, mixed; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; DCM; Carnitine transporter deficiency (primary carnitine deficiency); Propionicacidemia to Carnitine deficiency, systemic primary MIM#212140",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:03:49.703553+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC22A5 were set to 24816252; 27604308",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-01-24T19:03:35.461497+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-01-24T14:13:17.480839+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.86",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: LY96 was added\ngene: LY96 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: LY96 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LY96 were set to PMID: 36462957\nPhenotypes for gene: LY96 were set to Colitis\nReview for gene: LY96 was set to RED\nAdded comment: Single patient with infantile colitis associated with failure-to-thrive, bloody diarrhea, and perianal abscesses since the age of 4 months. Later developed bronchiectasis and persistent pneumonia, which required lobectomy at the age of 6 years. Brother with same deletion presented with recurrent otitis media and pneumonia but exhibited no signs of intestinal inflammation. \nSources: Literature",
"entity_name": "LY96",
"entity_type": "gene"
},
{
"created": "2023-01-23T15:05:34.341375+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.151",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22989098, 18337137, 27807682; Phenotypes: Carnitine deficiency, systemic primary MIM#212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-01-20T09:53:28.479980+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF13 were changed from Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual developmental disorder, X-linked 110, MIM# 301095",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2023-01-20T09:52:49.934956+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF13 were set to 33245860",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2023-01-20T09:52:11.792698+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: FGF13.",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2023-01-20T09:51:59.074511+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF13: Added comment: PMID 34184986: 3 individuals reported with moderate to severe ID and maternally inherited 5' variant c.-32C-G; Changed publications: 33245860, 34184986; Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual developmental disorder, X-linked 110, MIM# 301095",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2023-01-20T09:50:54.859868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF13 were changed from Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual developmental disorder, X-linked 110, MIM# 301095",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2023-01-20T09:50:33.529167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF13 were set to 33245860",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2023-01-20T09:50:13.145189+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: FGF13.",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2023-01-20T09:49:53.808987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF13: Added comment: PMID 34184986: 3 individuals reported with moderate to severe ID and maternally inherited 5' variant c.-32C-G; Changed publications: 33245860, 34184986",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2023-01-20T09:47:35.365979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual developmental disorder, X-linked 110, MIM# 301095",
"entity_name": "FGF13",
"entity_type": "gene"
},
{
"created": "2023-01-18T21:38:53.184294+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APC as Red List (low evidence)",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2023-01-18T21:38:53.172193+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apc has been classified as Red List (Low Evidence).",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2023-01-18T21:38:43.045951+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: APC.",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2023-01-18T21:37:53.316511+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WT1 as Green List (high evidence)",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2023-01-18T21:37:53.304295+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wt1 has been classified as Green List (High Evidence).",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2023-01-18T21:37:42.162608+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: WT1.",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2023-01-18T21:37:32.657643+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Rated as 'moderate actionability' in paediatric patients by ClinGen.\r\n\r\nIndividuals with germline WT1 pathogenic variants are more likely to have bilateral or multicentric tumors and to develop tumors at an early age. The median age of diagnosis is between 3 and 4 years and both kidneys are affected in ~5% of children. Significantly more females than males have the bilateral disease. Adult forms are very rare. In the majority of cases, the prognosis is favorable with a survival rate of over 90%.\r\n\r\nThe goal of surveillance in individuals with a genetic predisposition to WT is to\r\n \r\ndetect tumors while they are low-stage and require less treatment compared to advanced-stage tumors. Surveillance is not a one-time event and should continue through the period of risk. WTs can double in size every week, leading to the recommendation that evaluation with abdominal ultrasound be performed every 3-4 months, with and no less frequently than 3 times a year, until age five years. Even at this frequency, occasional tumors may present clinically between scans and families should be made aware of this. However, there is no evidence to suggest that such tumors have a worse outcome.\r\n\r\nNo evidence was found on the effectiveness of surveillance in children with WT due to WT1 pathogenic variants. In addition, there is no clear evidence that surveillance results in a significant decrease in mortality or tumor stage generally. However, tumors detected by surveillance would be anticipated to be on average smaller than tumors that present clinically. There have been three small retrospective evaluations of WT surveillance published, only one of which reported a significant difference in stage distribution between screened and unscreened individuals. This report was a case series of children with Beckwith-Wiedemann syndrome and idiopathic hemihypertropy, where 0/12 screened children with WT had late-stage disease and 25/59 (42%) of unscreened children had late-stage WT (p<0.003). In addition, in Germany, where abdominal ultrasound in children is common and 10% of WT are diagnosed prior to symptoms, there are some data to suggest that asymptomatic tumors are of lower stage than those present due to clinical symptoms.\r\n\r\nPenetrance is unclear. For review.; to: Rated as 'moderate actionability' in paediatric patients by ClinGen.\r\n\r\nIndividuals with germline WT1 pathogenic variants are more likely to have bilateral or multicentric tumors and to develop tumors at an early age. The median age of diagnosis is between 3 and 4 years and both kidneys are affected in ~5% of children. Significantly more females than males have the bilateral disease. Adult forms are very rare. In the majority of cases, the prognosis is favorable with a survival rate of over 90%.\r\n\r\nThe goal of surveillance in individuals with a genetic predisposition to WT is to\r\n \r\ndetect tumors while they are low-stage and require less treatment compared to advanced-stage tumors. Surveillance is not a one-time event and should continue through the period of risk. WTs can double in size every week, leading to the recommendation that evaluation with abdominal ultrasound be performed every 3-4 months, with and no less frequently than 3 times a year, until age five years. Even at this frequency, occasional tumors may present clinically between scans and families should be made aware of this. However, there is no evidence to suggest that such tumors have a worse outcome.\r\n\r\nNo evidence was found on the effectiveness of surveillance in children with WT due to WT1 pathogenic variants. In addition, there is no clear evidence that surveillance results in a significant decrease in mortality or tumor stage generally. However, tumors detected by surveillance would be anticipated to be on average smaller than tumors that present clinically. There have been three small retrospective evaluations of WT surveillance published, only one of which reported a significant difference in stage distribution between screened and unscreened individuals. This report was a case series of children with Beckwith-Wiedemann syndrome and idiopathic hemihypertropy, where 0/12 screened children with WT had late-stage disease and 25/59 (42%) of unscreened children had late-stage WT (p<0.003). In addition, in Germany, where abdominal ultrasound in children is common and 10% of WT are diagnosed prior to symptoms, there are some data to suggest that asymptomatic tumors are of lower stage than those present due to clinical symptoms.\r\n",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2023-01-17T18:17:55.116825+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: GLA.",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-01-17T18:17:44.593503+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Assessed as 'moderate actionability' in paediatric patients by ClinGen.\r\n\r\nIn classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype. \r\n\r\nCardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population.\r\n\r\nA systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established.\r\n\r\nMigalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition.\r\n\r\nA systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months.\r\n\r\nThere are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started.; to: Assessed as 'moderate actionability' in paediatric patients by ClinGen.\r\n\r\nIn classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype. \r\n\r\nCardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population.\r\n\r\nA systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established.\r\n\r\nMigalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition.\r\n\r\nA systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months.\r\n\r\nThere are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started. Note ERT is licensed in Australia from age 7 years.\r\n\r\nHowever, carbamazepine relieves neuropathic pain, which has onset in early childhood. Overall, include.",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-01-17T18:16:26.441375+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLA: Changed rating: GREEN",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:41:43.654172+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD2 as ready",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:41:43.641968+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:41:37.625675+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD2 as Green List (high evidence)",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:41:37.613101+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:41:27.247625+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: SMAD2.\nTag treatable tag was added to gene: SMAD2.",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:41:16.189704+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD2 was added\ngene: SMAD2 was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, MIM# 619656\nReview for gene: SMAD2 was set to GREEN\nAdded comment: 9 individuals from 5 unrelated families reported with LDS phenotype. Gene-disease association rated 'moderate' by ClinGen but this gene is included in our diagnostic testing.\r\n\r\nLDS included in gNBS panel as in general medical actionability for the LDS group of disorders is considered established.\r\n\r\nCan manifest in early childhood.\r\n\r\nTreatment: different interventions, including beta-blockers, surgical and monitoring\r\n\r\nNon-genetic confirmatory test: characteristic clinical findings \nSources: Expert Review",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:36:10.012169+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: SMAD3.\nTag treatable tag was added to gene: SMAD3.",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:35:16.541654+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: TGFB3.",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:34:52.677691+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: TGFB2.",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:08:11.872889+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMS2 as Green List (high evidence)",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:08:11.860552+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pms2 has been classified as Green List (High Evidence).",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:08:00.626218+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PMS2.",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:07:50.294276+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PMS2: Changed rating: GREEN",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:07:24.550488+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSH6 as Green List (high evidence)",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:07:24.532389+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msh6 has been classified as Green List (High Evidence).",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:07:15.527068+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MSH6.",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:07:04.556563+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MSH6: Changed rating: GREEN",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:06:37.726946+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSH2 as Green List (high evidence)",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:06:37.709527+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msh2 has been classified as Green List (High Evidence).",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:06:28.182962+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MSH2.",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2023-01-17T16:06:16.538944+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MSH2: Changed rating: GREEN",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2023-01-17T14:00:09.040477+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MLH1 as Green List (high evidence)",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-01-17T14:00:09.020122+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mlh1 has been classified as Green List (High Evidence).",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:59:45.496544+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MLH1: Changed rating: GREEN",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:53:23.229461+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC13A5 as Red List (low evidence)",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:53:23.216479+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:52:15.385520+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCH1 as Green List (high evidence)",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:52:15.370375+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Green List (High Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:52:05.902525+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PTCH1.",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:50:25.141548+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMM2 as Red List (low evidence)",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:50:25.128945+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Red List (Low Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:50:10.947452+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nTwo clinical presentations - solely neurologic form and a neurologic-multivisceral form\r\nMortality approximately 20% in first 2 years\r\n\r\nTreatment: epalrestat\r\n\r\nPMID 31636082: Epalrestat increased PMM2 enzymatic activity in four PMM2-CDG patient fibroblast lines with genotypes R141H/F119L, R141H/E139K, R141H/N216I and R141H/F183S. PMM2 enzyme activity gains ranged from 30% to 400% over baseline, depending on genotype. Pharmacological inhibition of aldose reductase by epalrestat may shunt glucose from the polyol pathway to glucose-1,6-bisphosphate, which is an endogenous stabilizer and coactivator of PMM2 homodimerization. Epalrestat is a safe, oral and brain penetrant drug that was approved 27 years ago in Japan to treat diabetic neuropathy in geriatric populations.\r\n\r\nFor review: uncertain if in use for CDG; to: Well established gene-disease association.\r\n\r\nTwo clinical presentations - solely neurologic form and a neurologic-multivisceral form\r\nMortality approximately 20% in first 2 years\r\n\r\nTreatment: epalrestat\r\n\r\nPMID 31636082: Epalrestat increased PMM2 enzymatic activity in four PMM2-CDG patient fibroblast lines with genotypes R141H/F119L, R141H/E139K, R141H/N216I and R141H/F183S. PMM2 enzyme activity gains ranged from 30% to 400% over baseline, depending on genotype. Pharmacological inhibition of aldose reductase by epalrestat may shunt glucose from the polyol pathway to glucose-1,6-bisphosphate, which is an endogenous stabilizer and coactivator of PMM2 homodimerization. Epalrestat is a safe, oral and brain penetrant drug that was approved 27 years ago in Japan to treat diabetic neuropathy in geriatric populations.\r\n\r\nTreatment not well established in patients.",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:49:53.653663+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PMM2: Changed rating: RED",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:49:41.337255+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PMM2.\nTag metabolic was removed from gene: PMM2.",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:45:11.369090+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3CA as Red List (low evidence)",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:45:11.326101+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Red List (Low Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:45:01.694174+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PIK3CA.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:44:53.445138+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIK3CA: Changed rating: RED",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:42:19.823291+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MEN1.",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:39:20.239798+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPRT1 as Red List (low evidence)",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:39:20.223629+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hprt1 has been classified as Red List (Low Evidence).",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:39:01.485163+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Uncertain if these are essentially symptomatic treatments.; to: Symptomatic treatments.",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:38:46.899534+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HPRT1: Changed rating: RED",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:36:54.087727+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: GLDC.\nTag treatable tag was added to gene: GLDC.\nTag metabolic tag was added to gene: GLDC.",
"entity_name": "GLDC",
"entity_type": "gene"
}
]
}