{"count":220959,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=711","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=709","results":[{"created":"2022-10-20T12:51:48.508458+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.588","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: VPS13A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoacanthocytosis MIM#200150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-10-20T12:43:17.470330+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.588","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: VPS13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen syndrome MIM#216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS13B","entity_type":"gene"},{"created":"2022-10-20T10:20:06.430956+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.0","user_name":"Peter McNaughton","item_type":"entity","text":"gene: FBXW11 was added\ngene: FBXW11 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXW11 were set to PMID: 36250618\nPhenotypes for gene: FBXW11 were set to Autoinflammation\nReview for gene: FBXW11 was set to RED\nAdded comment: Single patient with autoinflammatory disorder characterised by recurrent periodic fever and severe headaches.  Functional studies showing increased NF-kB phosphorylation, increased p65 phosphorylation and increased IL-1B production. \nSources: Literature","entity_name":"FBXW11","entity_type":"gene"},{"created":"2022-10-20T09:59:06.040919+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.588","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25987178, PMID: 23348427, PMID: 33195324; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARSA","entity_type":"gene"},{"created":"2022-10-20T09:14:37.211867+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EMILIN1 were changed from Peripheral neuropathy; aortic aneurysm to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Peripheral neuropathy; aortic aneurysm","entity_name":"EMILIN1","entity_type":"gene"},{"created":"2022-10-20T09:14:14.222421+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EMILIN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm","entity_name":"EMILIN1","entity_type":"gene"},{"created":"2022-10-20T09:13:52.048960+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EMILIN1 were changed from peripheral neuropathy to Neuronopathy, distal hereditary motor, type X, MIM# 620080","entity_name":"EMILIN1","entity_type":"gene"},{"created":"2022-10-20T09:13:29.207141+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.417","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EMILIN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EMILIN1","entity_type":"gene"},{"created":"2022-10-20T09:12:58.205616+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.417","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"EMILIN1","entity_type":"gene"},{"created":"2022-10-20T09:11:51.858360+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5000","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM147 were changed from Neurodevelopmental disorder (MONDO:0700092), TMEM147-related to Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075","entity_name":"TMEM147","entity_type":"gene"},{"created":"2022-10-20T09:11:15.952150+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4999","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM147","entity_type":"gene"},{"created":"2022-10-20T09:10:47.764451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM147 were changed from Neurodevelopmental disorder (MONDO:0700092), TMEM147-related to Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075","entity_name":"TMEM147","entity_type":"gene"},{"created":"2022-10-20T09:10:23.212254+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.416","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM147","entity_type":"gene"},{"created":"2022-10-19T19:04:29.370775+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.143","user_name":"Krithika Murali","item_type":"entity","text":"gene: CYP26B1 was added\ngene: CYP26B1 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP26B1 were set to PMID: 22019272\nPhenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies - MIM#\t614416\nReview for gene: CYP26B1 was set to GREEN\nAdded comment: Fetal death in utero reported in this condition which is associated with prominent craniofacial malformations. Prenatal shortening of the upper and lower limbs with pronounced angulation also described. \nSources: Literature, Expert list","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2022-10-19T18:54:02.757318+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.143","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: Severe prenatal growth restriction and shortened long bones described. \r\n\r\nPlease note, prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population. \nSources: Literature, Expert list; to: Severe prenatal growth restriction and shortened long bones described. \r\n\r\nPrenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population. \r\n\r\nSources: Literature, Expert list","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-10-19T18:53:46.982562+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.143","user_name":"Krithika Murali","item_type":"entity","text":"gene: CUL7 was added\ngene: CUL7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CUL7 were set to 20301654; 26850509; 17675530\nPhenotypes for gene: CUL7 were set to 3-M syndrome 1 - MIM#273750; Yakut short stature syndrome\nReview for gene: CUL7 was set to GREEN\nAdded comment: Severe prenatal growth restriction and shortened long bones described. \r\n\r\nPlease note, prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population. \nSources: Literature, Expert list","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-10-19T18:19:05.015250+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.588","user_name":"Alison Yeung","item_type":"entity","text":"commented on gene: BSCL2","entity_name":"BSCL2","entity_type":"gene"},{"created":"2022-10-19T18:17:52.196734+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.588","user_name":"Alison Yeung","item_type":"entity","text":"changed review comment from: note: metreleptin available in Australia under the label of Atacand; to: note: metreleptin is available under trade name of Myalept in USA and soon to be available in Australia","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2022-10-19T18:11:35.337635+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.143","user_name":"Krithika Murali","item_type":"entity","text":"gene: CTSK was added\ngene: CTSK was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSK were set to PMID: 33151655\nPhenotypes for gene: CTSK were set to Pycnodysostosis - MIM#265800\nReview for gene: CTSK was set to GREEN\nAdded comment: ~30% with prenatal onset short-limbed short stature \nSources: Literature, Expert list","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-10-19T18:06:11.531204+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.588","user_name":"Alison Yeung","item_type":"entity","text":"commented on gene: CAVIN1","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2022-10-19T18:03:32.937235+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.588","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYP21A2 as Amber List (moderate evidence)","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-10-19T18:03:32.929712+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.588","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-10-19T18:03:22.454512+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CYP21A2.","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-10-19T18:01:40.051640+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CYP21A2: Changed rating: AMBER","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-10-19T17:58:53.217930+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP11A1 as ready","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2022-10-19T17:58:53.208710+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp11a1 has been classified as Green List (High Evidence).","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2022-10-19T17:58:43.150763+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CYP11A1.","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2022-10-19T17:58:32.239818+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. Congenital onset.\r\n\r\nFor review: should we include mono-allelic variants?; to: Well established gene-disease association. Congenital onset.\r\n\r\nMono-allelic variants discussed: a single family reported only. Does not meet criteria for inclusion. MOI set to bi-allelic.","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2022-10-19T17:51:07.601816+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COQ7 as Amber List (moderate evidence)","entity_name":"COQ7","entity_type":"gene"},{"created":"2022-10-19T17:51:07.592448+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq7 has been classified as Amber List (Moderate Evidence).","entity_name":"COQ7","entity_type":"gene"},{"created":"2022-10-19T17:50:54.608450+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four families reported.\r\n\r\nTreatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.; to: Four families reported only.\r\n\r\nTreatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations. However this advice applies to the whole group of related conditions, and data on this particular condition in terms of natural history and response to treatment is currently limited.","entity_name":"COQ7","entity_type":"gene"},{"created":"2022-10-19T17:50:11.208676+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COQ7: Changed rating: AMBER","entity_name":"COQ7","entity_type":"gene"},{"created":"2022-10-19T17:46:52.398528+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CBS as Amber List (moderate evidence)","entity_name":"CBS","entity_type":"gene"},{"created":"2022-10-19T17:46:52.388227+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbs has been classified as Amber List (Moderate Evidence).","entity_name":"CBS","entity_type":"gene"},{"created":"2022-10-19T17:46:38.252296+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nMulti-system disorder, onset in infancy.\r\nIn general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature. \r\n\r\nTreatment: vitamin B6  (pyridoxine),  methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.\r\n\r\nNon-genetic confirmatory testing: plasma total homocysteine and plasma amino acids\r\n\r\nPaediatric actionable gene by ClinGen.\r\n\r\nNote excluded from reproductive carrier screening tests due to poor mappability, for review.; to: Well established gene-disease association.\r\n\r\nMulti-system disorder, onset in infancy.\r\nIn general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature. \r\n\r\nTreatment: vitamin B6  (pyridoxine),  methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.\r\n\r\nNon-genetic confirmatory testing: plasma total homocysteine and plasma amino acids\r\n\r\nPaediatric actionable gene by ClinGen.\r\n\r\nNote excluded from reproductive carrier screening tests due to poor mappability: downgraded to Amber for now.","entity_name":"CBS","entity_type":"gene"},{"created":"2022-10-19T17:45:49.274788+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CBS: Changed rating: AMBER","entity_name":"CBS","entity_type":"gene"},{"created":"2022-10-19T17:44:35.676822+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CAVIN1.","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2022-10-19T17:43:44.374641+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: BSCL2.","entity_name":"BSCL2","entity_type":"gene"},{"created":"2022-10-19T17:40:18.893548+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCHE as ready","entity_name":"BCHE","entity_type":"gene"},{"created":"2022-10-19T17:40:18.883733+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bche has been classified as Green List (High Evidence).","entity_name":"BCHE","entity_type":"gene"},{"created":"2022-10-19T17:39:31.000516+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: BCHE.\nTag pharmacogenomic tag was added to gene: BCHE.","entity_name":"BCHE","entity_type":"gene"},{"created":"2022-10-19T17:39:17.171565+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nIndividuals are asymptomatic unless exposed to triggering agents.\r\n\r\nConsider as a separate pharmacogenomic offering?\r\n\r\nFor review.; to: Well established gene-disease association.\r\n\r\nIndividuals are asymptomatic unless exposed to triggering agents.\r\n\r\nConsider as a separate pharmacogenomic offering?\r\n\r\nGroup review: preventative intervention available by placing alerts in medical records.","entity_name":"BCHE","entity_type":"gene"},{"created":"2022-10-19T17:38:31.334510+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BCHE: Changed rating: GREEN","entity_name":"BCHE","entity_type":"gene"},{"created":"2022-10-19T17:35:27.068592+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: ATP7B.","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-10-19T17:35:16.204566+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ATP7B: Group discussion: acute liver failure can be fatal, and the disorder is treatable.","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-10-19T17:34:17.066654+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP7B: Changed rating: GREEN","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-10-19T17:31:42.020152+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-10-19T17:29:11.171511+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: ATP6V1B1.","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2022-10-19T17:28:08.734677+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: ATP6V0A4.","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2022-10-19T17:23:01.903819+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: AMN.","entity_name":"AMN","entity_type":"gene"},{"created":"2022-10-19T17:22:21.161916+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: AKR1D1.","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2022-10-19T17:21:44.766033+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: AIRE.","entity_name":"AIRE","entity_type":"gene"},{"created":"2022-10-19T17:20:13.105421+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: AGXT.","entity_name":"AGXT","entity_type":"gene"},{"created":"2022-10-19T17:19:16.338410+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: ABCD1.","entity_name":"ABCD1","entity_type":"gene"},{"created":"2022-10-19T17:12:17.018153+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nSevere disorder with onset in infancy, can be fatal.\r\n\r\nTreatment available: etidronate.\r\n\r\nHowever, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. \r\n\r\nThere are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; to: Well established gene-disease association.\r\n\r\nSevere disorder with onset in infancy, can be fatal.\r\n\r\nTreatment available: etidronate.\r\n\r\nHowever, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. However, imaging may be able to determine severity.\r\n\r\nThere are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.","entity_name":"ABCC6","entity_type":"gene"},{"created":"2022-10-19T17:09:58.114672+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: AAAS.","entity_name":"AAAS","entity_type":"gene"},{"created":"2022-10-19T15:21:54.645145+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2022-10-19T13:27:31.227306+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK5RAP2 as ready","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2022-10-19T13:27:31.206273+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5rap2 has been classified as Red List (Low Evidence).","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2022-10-19T13:27:22.837564+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDK5RAP2 as Red List (low evidence)","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2022-10-19T13:27:22.828104+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5rap2 has been classified as Red List (Low Evidence).","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2022-10-19T13:27:09.185446+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDK5RAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2022-10-19T12:22:30.895255+11:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Albinism HP:0001022","entity_name":null,"entity_type":null},{"created":"2022-10-19T11:06:18.241575+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2022-10-19T07:01:35.956943+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.416","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC34 as ready","entity_name":"CCDC34","entity_type":"gene"},{"created":"2022-10-19T07:01:35.948516+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.416","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc34 has been classified as Green List (High Evidence).","entity_name":"CCDC34","entity_type":"gene"},{"created":"2022-10-19T07:01:23.589977+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.416","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC34 as Green List (high evidence)","entity_name":"CCDC34","entity_type":"gene"},{"created":"2022-10-19T07:01:23.580319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.416","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc34 has been classified as Green List (High Evidence).","entity_name":"CCDC34","entity_type":"gene"},{"created":"2022-10-19T07:01:04.888925+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.415","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC34 was added\ngene: CCDC34 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CCDC34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC34 were set to 34348960\nPhenotypes for gene: CCDC34 were set to Spermatogenic failure 76, MIM#\t620084\nReview for gene: CCDC34 was set to GREEN\nAdded comment: Two unrelated individuals reported with homozygous frameshift variants. Mouse model recapitulated phenotype. \nSources: Expert list","entity_name":"CCDC34","entity_type":"gene"},{"created":"2022-10-18T20:11:41.575651+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLAD1 as ready","entity_name":"FLAD1","entity_type":"gene"},{"created":"2022-10-18T20:11:41.542196+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flad1 has been classified as Green List (High Evidence).","entity_name":"FLAD1","entity_type":"gene"},{"created":"2022-10-18T20:11:31.904170+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FLAD1 were set to ","entity_name":"FLAD1","entity_type":"gene"},{"created":"2022-10-18T20:11:14.064842+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: FLAD1.\nTag treatable tag was added to gene: FLAD1.","entity_name":"FLAD1","entity_type":"gene"},{"created":"2022-10-18T20:11:00.213130+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392824; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FLAD1","entity_type":"gene"},{"created":"2022-10-18T18:08:27.893064+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.414","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17097056, 20022194, 25173926, 25224718, 22767232, 27287556, 28436997, 31333075, 31956495, 32973354, 34802252, 33500567, 36078153, 36116040; Phenotypes: intrinsic cardiomyopathy MONDO:0000591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTN2","entity_type":"gene"},{"created":"2022-10-18T14:29:52.254173+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.583","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: hypoglycaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCK","entity_type":"gene"},{"created":"2022-10-18T14:21:32.868840+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.583","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25356975; Phenotypes: hypoglycaemia, IUGR, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"G6PC","entity_type":"gene"},{"created":"2022-10-18T14:14:54.204103+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.583","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33266441; Phenotypes: neurodegneration, coarse facial features, grow retardation, dysostosis multiplex, angiokeratomata, recurrent URTIs; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FUCA1","entity_type":"gene"},{"created":"2022-10-18T14:03:12.163185+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.583","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30680745; Phenotypes: lactic acidosis, respiratory insufficiency, cardiomyopathy, skeletal myopathy, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FLAD1","entity_type":"gene"},{"created":"2022-10-17T18:57:51.912146+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC40 as ready","entity_name":"CCDC40","entity_type":"gene"},{"created":"2022-10-17T18:57:51.902894+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc40 has been classified as Red List (Low Evidence).","entity_name":"CCDC40","entity_type":"gene"},{"created":"2022-10-17T18:57:48.839573+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC40 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 15, MIM#613808","entity_name":"CCDC40","entity_type":"gene"},{"created":"2022-10-17T18:57:29.639132+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC40 as Red List (low evidence)","entity_name":"CCDC40","entity_type":"gene"},{"created":"2022-10-17T18:57:29.630307+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc40 has been classified as Red List (Low Evidence).","entity_name":"CCDC40","entity_type":"gene"},{"created":"2022-10-17T18:57:18.674826+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.581","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC40","entity_type":"gene"},{"created":"2022-10-17T18:56:01.858410+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.581","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC39 as ready","entity_name":"CCDC39","entity_type":"gene"},{"created":"2022-10-17T18:56:01.847370+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.581","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc39 has been classified as Red List (Low Evidence).","entity_name":"CCDC39","entity_type":"gene"},{"created":"2022-10-17T18:55:57.868748+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.581","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC39 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 14, MIM# 613807","entity_name":"CCDC39","entity_type":"gene"},{"created":"2022-10-17T18:55:45.681031+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.580","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC39 as Red List (low evidence)","entity_name":"CCDC39","entity_type":"gene"},{"created":"2022-10-17T18:55:45.670149+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.580","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc39 has been classified as Red List (Low Evidence).","entity_name":"CCDC39","entity_type":"gene"},{"created":"2022-10-17T18:55:34.708776+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC39","entity_type":"gene"},{"created":"2022-10-17T18:54:19.737212+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CC2D2A as ready","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-17T18:54:19.727686+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cc2d2a has been classified as Red List (Low Evidence).","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-17T18:54:16.623014+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CC2D2A were changed from Joubert syndrome to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-17T18:54:01.623192+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CC2D2A as Red List (low evidence)","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-17T18:54:01.609339+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cc2d2a has been classified as Red List (Low Evidence).","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-17T18:53:51.522087+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.577","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-17T18:52:11.317052+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CAVIN1.","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2022-10-17T18:51:57.260073+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CAVIN1.","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2022-10-17T18:51:44.533522+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.577","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAVIN1 as ready","entity_name":"CAVIN1","entity_type":"gene"}]}