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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=638",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=636",
"results": [
{
"created": "2023-02-18T13:54:46.184894+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat6 has been classified as Green List (High Evidence).",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2023-02-18T13:52:15.663179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTV1 as ready",
"entity_name": "LTV1",
"entity_type": "gene"
},
{
"created": "2023-02-18T13:52:15.653090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltv1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LTV1",
"entity_type": "gene"
},
{
"created": "2023-02-18T13:50:45.859184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LTV1 as Amber List (moderate evidence)",
"entity_name": "LTV1",
"entity_type": "gene"
},
{
"created": "2023-02-18T13:50:45.852039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltv1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LTV1",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:36:54.818339+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TANGO2 as ready",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:36:54.808585+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Green List (High Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:36:47.651002+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TANGO2 were changed from Cardiomyopathy; Metabolic Crises; Arrhythmia; Neurodevelopmental to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:36:23.431795+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TANGO2 as Green List (high evidence)",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:36:23.421951+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Green List (High Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:36:13.130765+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TANGO2.\nTag metabolic tag was added to gene: TANGO2.",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:35:49.027040+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMP2 were changed from Danon disease, MIM# 300257 to Danon disease, MIM# 300257",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:35:34.984491+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMP2 as Green List (high evidence)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:35:34.966236+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Green List (High Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:34:08.931844+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-5 as ready",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:34:08.913450+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-5 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:34:02.978129+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-5 were changed from Congenital heart disease to Atrial septal defect 7, with or without AV conduction defects, MIM#\t108900",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:33:21.136601+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: NKX2-5.",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:33:11.360036+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NKX2-5 as Green List (high evidence)",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2023-02-17T20:33:11.347481+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-5 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2023-02-17T14:52:33.317643+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AVP as ready",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2023-02-17T14:52:33.305056+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: avp has been classified as Green List (High Evidence).",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2023-02-17T14:50:21.728252+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AVP were changed from Diabetes insipidus, neurohypophyseal to Diabetes insipidus, neurohypophyseal MIM#125700",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2023-02-17T14:49:50.955114+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AVP as Green List (high evidence)",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2023-02-17T14:49:50.947438+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: avp has been classified as Green List (High Evidence).",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2023-02-17T14:49:29.280152+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.6",
"user_name": "Ella Wilkins",
"item_type": "entity",
"text": "gene: AVP was added\ngene: AVP was added to Renal Tubulopathies and related disorders. Sources: Expert list\nMode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal\nReview for gene: AVP was set to GREEN\nAdded comment: Included due to phenotypic overlap with nephrogenic DI. \nSources: Expert list",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2023-02-17T01:22:17.512038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.665",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: LTV1 was added\ngene: LTV1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LTV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTV1 were set to 34999892\nPhenotypes for gene: LTV1 were set to Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199\nReview for gene: LTV1 was set to AMBER\nAdded comment: Comment on classification of gene: This gene should be rated amber as it has been implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses as identified from two unrelated families harbouring the same biallelic variant and supported by functional studies.\r\n\r\nPMID:34999892 reported four UK women of South Asian origin (three Pakistani sisters and an unrelated Indian woman) identified with homozygous variant c.503A>G, (p.Asn168Ser) and presented with poikiloderma, hair abnormalities, and acral keratoses, which the authors named as inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK).\r\n\r\nBoth in silico modelling and splicing assays from a patient sample showed that this variant is responsible for splicing defects and defects in LTV1 alter the export of nascent ribosomal subunits to the cytoplasm in yeast.\r\n\r\nThis gene has already been associated with relevant phenotype (MIM #620199) in OMIM, but not in Gene2Phenotype. \nSources: Literature",
"entity_name": "LTV1",
"entity_type": "gene"
},
{
"created": "2023-02-16T09:35:41.740803+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.164",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "edited their review of gene: STAT6: Added comment: Report of another child with severe atopic dermatitis, eosinophilia and elevated IgE with extensive functional data.; Changed rating: GREEN; Changed publications: PMID: 36216080, PMID: 36758835",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2023-02-16T09:29:00.618624+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.164",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "changed review comment from: STAT6 gain-of-function variant associated with early-onset multiorgan allergies in a family with\r\n3 affected members, extensive functional data to support mechanism of allergic disease. \nSources: Literature; to: STAT6 gain-of-function variant associated with early-onset multiorgan allergies in a family with\r\n3 affected members, extensive functional data to support mechanism of allergic disease. \r\nSources: Literature",
"entity_name": "STAT6",
"entity_type": "gene"
},
{
"created": "2023-02-16T00:46:42.852242+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.307",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "gene: MRPS7 was added\ngene: MRPS7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: MRPS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS7 were set to PMID: 25556185; 36421788\nPhenotypes for gene: MRPS7 were set to sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency\nReview for gene: MRPS7 was set to AMBER\nAdded comment: The initial report (PMID: 25556185) describes a homozygous missense variant in two sisters with sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. One sister died in early adolescence but the other survived beyond puberty and had primary ovarian insufficiency. Experimental evidence supported causation of the MRPS7 variant.\r\n\r\nThe second publication (PMID: 36421788) describes sisters with an overlapping phenotype including sensorineural deafness and premature ovarian insufficiency. They both had compound heterozygous (one missense, one nonsense) MRPS7 variants. \nSources: Literature",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2023-02-16T00:37:00.489097+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.854",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "reviewed gene: MRPS7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36421788, 25556185; Phenotypes: sensorineural deafness, renal failure, liver failure, primary ovarian insufficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2023-02-15T17:13:26.971222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.665",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: WNT11 was added\ngene: WNT11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WNT11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WNT11 were set to 34875064\nPhenotypes for gene: WNT11 were set to osteoporosis, MONDO:0005298; osteoarthritis, MONDO:0005178; recurrent fractures\nReview for gene: WNT11 was set to GREEN\nAdded comment: Comment on gene classification: The rating of this gene can be added as green as this gene has been implicated in early-onset osteoporosis from three unrelated cases and was supported by evidence from functional studies. All three patients harboured heterozygous variants in WNT11 gene.\r\n\r\nThree unrelated cases are reported in PMID: 34875064. A four year-old boy harbouring de novo heterozygous loss-of-function variant c.677_678dupGG (p.Leu227Glyfs*22) was reported with low BMD, osteopenia and several fractures. \r\n\r\nA 51 year-old woman and her 69 year-old mother were identified with a heterozygous missense variant c.217G>A (p.Ala73Thr). The woman was reported with bone fragility, several fractures, osteoarthritis and osteoporosis, while her mother also had several osteoporotic fractures.\r\n\r\nA 61 year-old woman that was reported with lumbar spine osteoarthritis had several fractures since 55 years of age was identified with a heterozygous missense variant c.865G>A (p.Val289Met).\r\n\r\nThis was also supported by results from functional studies, where cell lines with the loss-of-function variant generated by CRISPR-Cas9 showed reduced cell proliferation and osteoblast differentiation in comparison to wild-type. The expression of genes in the Wnt canonical and non-canonical pathways was inhibited in these mutant cells. \r\n\r\nThis gene has not yet been reported with any phenotypes either in OMIM or in G2P. \nSources: Literature",
"entity_name": "WNT11",
"entity_type": "gene"
},
{
"created": "2023-02-15T16:53:30.544050+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-02-15T15:48:52.014050+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1865",
"user_name": "Ari Horton",
"item_type": "entity",
"text": "reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31575911; Phenotypes: Cardiomyopathy, Metabolic Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2023-02-15T15:42:16.019477+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1865",
"user_name": "Ari Horton",
"item_type": "entity",
"text": "changed review comment from: Folate may assist with TANGO2\r\nDOI: https://doi.org/10.21203/rs.3.rs-1778084/v1\r\n\r\nWhile chronic symptoms are predominantly neurodevelopmental, metabolic stressors such as fasting, dehydration, illness, and excessive heat can trigger episodic metabolic crises characterized by encephalopathy, ataxia, muscle weakness, rhabdomyolysis, and hypoglycemia. During these events, patients can develop acute life-threatening cardiac arrhythmias. Arrhythmias typically initiate with isolated premature ventricular contractions (PVC) followed by recalcitrant ventricular tachycardia. Because these lethal arrhythmias usually do not respond to standard antiarrhythmic therapies, cardiac arrhythmias are the leading cause of death in TDD\r\n\r\nFasting and feeding recommendations to reduce crises and improve cardiac status and neurodev outcomes, reduce risk of cardiac arrhythmias and SCDY\r\n\r\nNatural history study (ClinicalTrials.gov Identifier: NCT05374616) strongly suggests that subjects on a multivitamin or a Bcomplex vitamin supplement have a greatly reduced risk for metabolic crises and cardiac arrhythmias \r\n\r\nSpecific diet and fasting plans are recommended for all patients from the neonatal period \nSources: Expert Review; to: Folate may assist with TANGO2\r\nDOI: https://doi.org/10.21203/rs.3.rs-1778084/v1\r\n\r\nPMID: 35568137\r\n\r\nWhile chronic symptoms are predominantly neurodevelopmental, metabolic stressors such as fasting, dehydration, illness, and excessive heat can trigger episodic metabolic crises characterized by encephalopathy, ataxia, muscle weakness, rhabdomyolysis, and hypoglycemia. During these events, patients can develop acute life-threatening cardiac arrhythmias. Arrhythmias typically initiate with isolated premature ventricular contractions (PVC) followed by recalcitrant ventricular tachycardia. Because these lethal arrhythmias usually do not respond to standard antiarrhythmic therapies, cardiac arrhythmias are the leading cause of death in TDD\r\n\r\nFasting and feeding recommendations to reduce crises and improve cardiac status and neurodev outcomes, reduce risk of cardiac arrhythmias and SCDY\r\n\r\nNatural history study (ClinicalTrials.gov Identifier: NCT05374616) strongly suggests that subjects on a multivitamin or a Bcomplex vitamin supplement have a greatly reduced risk for metabolic crises and cardiac arrhythmias \r\n\r\nTwenty-seven children were admitted for 43 cardiac crises (median age 6.4 years; interquartile range [IQR] 2.4–9.8 years) at 14 centers. During crisis, QTc prolongation occurred in all (median 547 ms; IQR 504–600 ms) and a type I Brugada pattern in 8 (26%). Arrhythmias included VT in 21 (78%), supraventricular tachycardia in 3 (11%), and heart block in 1 (4%). Nineteen patients (70%) developed cardiomyopathy, and 20 (74%) experienced a cardiac arrest. There were 10 deaths (37%), 6 related to arrhythmias. In 5 patients, recalcitrant VT occurred despite use of antiarrhythmic drugs. In 6 patients, arrhythmias were controlled after extracorporeal membrane oxygenation (ECMO) support; 5 of these patients survived. Among 10 patients who survived VT without ECMO, successful treatment included intravenous magnesium, isoproterenol, and atrial pacing in multiple cases and verapamil in 1 patient. Initiation of feeds seemed to decrease VT events.\r\n\r\nSpecific diet and fasting plans are recommended for all patients from the neonatal period \r\nSources: Expert Review",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-02-15T15:38:48.383631+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1865",
"user_name": "Ari Horton",
"item_type": "entity",
"text": "gene: TANGO2 was added\ngene: TANGO2 was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TANGO2 were set to Cardiomyopathy; Metabolic Crises; Arrhythmia; Neurodevelopmental\nPenetrance for gene: TANGO2 were set to Complete\nReview for gene: TANGO2 was set to GREEN\nAdded comment: Folate may assist with TANGO2\r\nDOI: https://doi.org/10.21203/rs.3.rs-1778084/v1\r\n\r\nWhile chronic symptoms are predominantly neurodevelopmental, metabolic stressors such as fasting, dehydration, illness, and excessive heat can trigger episodic metabolic crises characterized by encephalopathy, ataxia, muscle weakness, rhabdomyolysis, and hypoglycemia. During these events, patients can develop acute life-threatening cardiac arrhythmias. Arrhythmias typically initiate with isolated premature ventricular contractions (PVC) followed by recalcitrant ventricular tachycardia. Because these lethal arrhythmias usually do not respond to standard antiarrhythmic therapies, cardiac arrhythmias are the leading cause of death in TDD\r\n\r\nFasting and feeding recommendations to reduce crises and improve cardiac status and neurodev outcomes, reduce risk of cardiac arrhythmias and SCDY\r\n\r\nNatural history study (ClinicalTrials.gov Identifier: NCT05374616) strongly suggests that subjects on a multivitamin or a Bcomplex vitamin supplement have a greatly reduced risk for metabolic crises and cardiac arrhythmias \r\n\r\nSpecific diet and fasting plans are recommended for all patients from the neonatal period \nSources: Expert Review",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-02-15T15:27:55.493370+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1865",
"user_name": "Ari Horton",
"item_type": "entity",
"text": "reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood onset cardiomyopathy (Severe), Neuordevelopmental phenotype; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-02-15T15:19:12.947891+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1865",
"user_name": "Ari Horton",
"item_type": "entity",
"text": "reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neonatal onset cardiomyopathy, Congenital Heart Disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2023-02-15T15:15:44.276836+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1865",
"user_name": "Ari Horton",
"item_type": "entity",
"text": "reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, Congenital Heart Disease, Arrhythmia, Extra-cardiac Manifestations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2023-02-15T14:58:31.703972+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1865",
"user_name": "Ari Horton",
"item_type": "entity",
"text": "reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-02-15T09:43:01.035718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2023-02-15T07:03:59.164090+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP9A were changed from neurodevelopmental disorder, ATP9A-related MONDO#0700092 to Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2023-02-15T06:58:10.555572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP9A were changed from Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms to Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2023-02-15T06:57:32.220019+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP9A: Changed phenotypes: Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2023-02-15T06:57:16.643408+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP9A were changed from Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms to Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2023-02-15T06:56:45.656366+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP9A: Changed phenotypes: Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2023-02-15T06:56:25.291703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP9A were changed from Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms to Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2023-02-15T06:55:59.094891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP9A: Changed phenotypes: Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2023-02-15T06:55:39.203308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP9A: Changed phenotypes: NeurodevNeurodevelopmental disorder with poor growth and behavioral abnormalities, MIM# 620242",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2023-02-13T12:28:51.269043+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.104",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: JPH3 was added\ngene: JPH3 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: JPH3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: JPH3 were set to PMID: 36273396\nPhenotypes for gene: JPH3 were set to paroxysmal dystonia, intellectual disability\nPenetrance for gene: JPH3 were set to unknown\nMode of pathogenicity for gene: JPH3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: JPH3 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "JPH3",
"entity_type": "gene"
},
{
"created": "2023-02-12T11:32:42.210366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOLGA2 were changed from neuromuscular disease, GOLGA2-related MONDO#0019056 to Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T11:32:25.296445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GOLGA2: Added comment: Third family reported but again hypoplasia of CC which may be difficult to detect. Onset of microcephaly uncertain.; Changed publications: 34424553; Changed phenotypes: Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T11:30:18.034621+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOLGA2 were changed from Neuromuscular disorder to Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T11:29:44.821549+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GOLGA2 were set to PMID: 30237576; 26742501",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T11:29:08.125834+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GOLGA2: Added comment: Third family reported.; Changed publications: 34424553; Changed phenotypes: Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:37:49.460293+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOLGA2 were changed from Neuromuscular disorder to Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:37:19.434432+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GOLGA2 were set to PMID: 30237576; 26742501",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:36:45.427505+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GOLGA2: Added comment: Third family reported.; Changed publications: 34424553",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:29:02.557699+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GOLGA2: Changed phenotypes: Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:28:29.842950+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOLGA2 were changed from Neuromuscular disorder to Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:28:00.273157+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GOLGA2 were set to PMID: 30237576; 26742501",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:27:24.504378+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34424553; Phenotypes: Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:21:02.310001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GOLGA2 were changed from Neuromuscular disorder to Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:20:42.604712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GOLGA2 were set to PMID: 30237576; 26742501",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:20:21.771833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34424553; Phenotypes: Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:17:22.669596+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THSD1 were changed from Aneurysm, intracranial berry, 12 , MIM# 618734; Hydrops fetalis MONDO:0015193, THSD1-related to Aneurysm, intracranial berry, 12 , MIM# 618734; Lymphatic malformation 13, MIM# 620244",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:16:55.404059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THSD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:16:25.199374+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THSD1 were changed from Hydrops fetalis MONDO:0015193, THSD1-related to Lymphatic malformation 13, MIM# 620244",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2023-02-12T10:15:50.504906+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 13, MIM# 620244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2023-02-11T04:25:14.612749+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5165",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20159109, 25434005, 11050621, 29152164, 32873259, 34761259; Phenotypes: Intellectual developmental disorder, X-linked 72, OMIM:300271, Waisman syndrome, OMIM:311510; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2023-02-10T21:16:15.974568+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.127",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 34686882; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2023-02-10T14:33:02.497179+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCFD2 as Amber List (moderate evidence)",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2023-02-10T14:33:02.483035+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcfd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2023-02-10T14:32:50.228077+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Reviewed with Meg Wall, haematologist.\r\nTreatable, including with prophylactic DDAVP, include.; to: Reviewed with Meg Wall, haematologist.\r\nTreatable, including with prophylactic DDAVP; however, generally mild, therefore exclude.",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2023-02-10T14:32:27.362826+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCFD2: Changed rating: AMBER",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2023-02-10T14:30:51.268514+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBB were changed from Sickle cell anaemia, MIM# 603903; Thalassaemia, beta, MIM# 613985 to Sickle cell anaemia, MIM# 603903",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2023-02-10T14:30:35.203756+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HBB: Changed phenotypes: Sickle cell anaemia, MIM# 603903",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2023-02-10T10:04:22.759943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 78, MIM# 620237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2023-02-10T10:03:59.763501+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR11 were changed from Intellectual disability; Microcephaly; Short stature to Intellectual developmental disorder, autosomal recessive 78, MIM# 620237; Intellectual disability; Microcephaly; Short stature",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2023-02-10T10:03:22.111926+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR11: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 78, MIM# 620237, Intellectual disability, Microcephaly, Short stature",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2023-02-10T10:02:55.587901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR11 were changed from Intellectual disability; Hypogonadotropic hypogonadism 14 with or without anosmia MIM #614858 to Intellectual developmental disorder, autosomal recessive 78, MIM#\t620237; Hypogonadotropic hypogonadism 14 with or without anosmia MIM #614858",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2023-02-10T10:02:30.887806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR11: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 78, MIM# 620237, Hypogonadotropic hypogonadism 14 with or without anosmia MIM #614858",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2023-02-10T01:14:56.149038+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.48",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Seven cases are identified with homozygous variants in KCNV2 gene and reported with cone dystrophy with supernormal rod responses (CDSRR) in PMID:23221069. Similarly, 15 unrelated patients were identified with three different homozygous KCNV2 variants and reported with CDSRR in PMID:31960170. PMID:34535971 reports a Chinese family with compound heterozygous variants and implicated in CDSRR. KCNV2 knockout mouse exhibits aberrant retinal activities that phenocopies CDSRR patients (PMID:34652420).; to: Additional cases: Seven cases are identified with homozygous variants in KCNV2 gene and reported with cone dystrophy with supernormal rod responses (CDSRR) in PMID:23221069. Similarly, 15 unrelated patients were identified with three different homozygous KCNV2 variants and reported with CDSRR in PMID:31960170. PMID:34535971 reports a Chinese family with compound heterozygous variants and implicated in CDSRR. \r\n\r\nFunctional studies: KCNV2 knockout mouse exhibits aberrant retinal activities that phenocopies CDSRR patients (PMID:34652420).",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2023-02-10T01:03:33.936323+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.48",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23221069, 31960170, 34535971, 34652420; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:35:05.138635+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RUNX1 as Green List (high evidence)",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:35:05.130294+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx1 has been classified as Green List (High Evidence).",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:34:45.607122+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RUNX1: Changed rating: GREEN",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:29:48.339232+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCFD2 as ready",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:29:48.325572+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcfd2 has been classified as Green List (High Evidence).",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:29:41.915057+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MCFD2.\nTag treatable tag was added to gene: MCFD2.",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:29:30.619255+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V and factor VIII, combined deficiency of, MIM# 613625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:24:59.731163+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: HBB.",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:24:50.286598+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease associations.\r\n\r\nCongenital onset.\r\n\r\nBoth sickle cell anaemia and beta thalassaemia are treatable disorders.\r\n\r\nBeta thal: gene therapy (betibeglogene autotemcel - clinical trial), red cell transfusions, bone marrow transplantation (Hematopoietic Stem Cell Transplantation (HSCT)), Luspatercept\r\n\r\nSickle cell: glutamine, voxelotor, crizanlizumab, hydroxyurea, ,red cell transfusions, bone marrow transplantation (Hematopoietic Stem Cell Transplantation (HSCT)), gene therapy (BCH-BB694 BCL11A shmiR lentiviral vector - clinical trial and autologous CRISPR-Cas9-edited CD34+ hematopoietic stem and progenitor cells) - clinical trial)\r\n\r\nSome of the beta-that variants are structural -- ability to detect reliably? For review.; to: Well established gene-disease associations.\r\n\r\nCongenital onset.\r\n\r\nBoth sickle cell anaemia and beta thalassaemia are treatable disorders.\r\n\r\nBeta thal: gene therapy (betibeglogene autotemcel - clinical trial), red cell transfusions, bone marrow transplantation (Hematopoietic Stem Cell Transplantation (HSCT)), Luspatercept\r\n\r\nSickle cell: glutamine, voxelotor, crizanlizumab, hydroxyurea, ,red cell transfusions, bone marrow transplantation (Hematopoietic Stem Cell Transplantation (HSCT)), gene therapy (BCH-BB694 BCL11A shmiR lentiviral vector - clinical trial and autologous CRISPR-Cas9-edited CD34+ hematopoietic stem and progenitor cells) - clinical trial)\r\n\r\nSome of the beta-that variants are structural -- ability to detect reliably? For review.\r\n\r\nWe are only able to reliably screen for the HbS association.",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:23:56.086605+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HBA2 as Amber List (moderate evidence)",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:23:56.068579+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:23:37.455697+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HBA2: Changed rating: AMBER",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:22:47.030868+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HBA1 as Amber List (moderate evidence)",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:22:47.022520+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:22:22.615641+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatable: transfusions, bone marrow transplant.\r\n\r\nHowever, there is widespread screening in pregnancy. Also note mutational spectrum includes SVs/CNVs: can we reliably diagnose? For review.; to: Well established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatable: transfusions, bone marrow transplant.\r\n\r\nHowever, there is widespread screening in pregnancy. Also note mutational spectrum includes SVs/CNVs: can we reliably diagnose?\r\n\r\nExclude for now due to technical concerns.",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2023-02-08T17:21:52.687332+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HBA1: Changed rating: AMBER",
"entity_name": "HBA1",
"entity_type": "gene"
}
]
}