{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=269","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=267","results":[{"created":"2025-04-12T04:21:47.776683+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASS1 as Green List (high evidence)","entity_name":"ASS1","entity_type":"gene"},{"created":"2025-04-12T04:21:47.769766+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ass1 has been classified as Green List (High Evidence).","entity_name":"ASS1","entity_type":"gene"},{"created":"2025-04-12T04:21:32.667426+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASS1 was added\ngene: ASS1 was added to Additional findings_Adult. Sources: Literature\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASS1 were set to Citrullinemia MIM#215700\nReview for gene: ASS1 was set to GREEN\nAdded comment: Approximately 1/3 of individuals present with late onset.\r\n\r\nHyperammonaemia can be triggered by protein overload, catabolic events (including pregnancy), or certain drugs and can lead to neurological deficits. Liver failure is now recognized as a primary presentation. Hepatic dysfunction, when present, is often noted at the time of initial hyperammonaemic episode but has also developed in individuals not experiencing significant hyperammonemia.\r\n\r\nThe mainstay of long-term management is dietary treatment based on minimizing the nitrogen load on the urea cycle under the expertise of a specialist metabolic dietician; may also include nitrogen scavengers.\r\n\r\nElective surgery should be performed in centers with a metabolic department including emergency treatment options for hyperammonaemia. Steroids and valproate contraindicated. \nSources: Literature","entity_name":"ASS1","entity_type":"gene"},{"created":"2025-04-12T04:13:31.984792+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPS1 as ready","entity_name":"CPS1","entity_type":"gene"},{"created":"2025-04-12T04:13:31.977811+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cps1 has been classified as Green List (High Evidence).","entity_name":"CPS1","entity_type":"gene"},{"created":"2025-04-12T04:12:55.468203+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CPS1 as Green List (high evidence)","entity_name":"CPS1","entity_type":"gene"},{"created":"2025-04-12T04:12:55.458215+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cps1 has been classified as Green List (High Evidence).","entity_name":"CPS1","entity_type":"gene"},{"created":"2025-04-12T04:12:44.483760+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPS1 was added\ngene: CPS1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency MIM#237300\nReview for gene: CPS1 was set to GREEN\nAdded comment: Can rarely present in adulthood, including in the postpartum period with coma.\r\n\r\nACMG factsheet relating to management of adults:  https://www.acmg.net/PDFLibrary/CPS-I-Deficiency-Transition.pdf.\r\n\r\nManagement aims to maintain stable metabolic control and to reduce or eliminate chronic complications. Treatment includes medications to promote waste nitrogen excretion (nitrogen scavengers such as sodium benzoate, sodium phenylacetate, sodium phenylbutyrate, and glycerol phenylbutyrate); low-protein diet; and supplementation with arginine or citrulline, essential nutrients, and essential amino acids.\r\n\r\nGiven the risk of acute metabolic decompensation during surgery and general anaesthesia, elective surgery should only be carried out in centers able and prepared to deal with hyperammonemic decompensations. Specialised management is also required during pregnancy.\r\n\r\nSteroids and valproate are to be avoided. \nSources: Expert list","entity_name":"CPS1","entity_type":"gene"},{"created":"2025-04-12T04:02:30.437440+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: F5: Heterozygous variants assessed as LIMITED actionability by ClinGen.","entity_name":"F5","entity_type":"gene"},{"created":"2025-04-12T03:59:21.028385+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PYGM as ready","entity_name":"PYGM","entity_type":"gene"},{"created":"2025-04-12T03:59:21.021999+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pygm has been classified as Green List (High Evidence).","entity_name":"PYGM","entity_type":"gene"},{"created":"2025-04-12T03:59:13.782183+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PYGM as Green List (high evidence)","entity_name":"PYGM","entity_type":"gene"},{"created":"2025-04-12T03:59:13.769029+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pygm has been classified as Green List (High Evidence).","entity_name":"PYGM","entity_type":"gene"},{"created":"2025-04-12T03:58:48.346790+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PYGM was added\ngene: PYGM was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGM were set to McArdle disease, MIM# 232600\nReview for gene: PYGM was set to GREEN\nAdded comment: Can present in adulthood.\r\n\r\nIntense exercise can precipitate myoglobunuria, which can result in renal failure. Aerobic exercise training may improve conditioning, and static contractions should be avoided.\r\nCaution with some anaesthetics and statins. \nSources: Expert list","entity_name":"PYGM","entity_type":"gene"},{"created":"2025-04-11T18:59:25.036210+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F5 as ready","entity_name":"F5","entity_type":"gene"},{"created":"2025-04-11T18:59:25.029879+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f5 has been classified as Green List (High Evidence).","entity_name":"F5","entity_type":"gene"},{"created":"2025-04-11T18:59:07.411210+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: F5 as Green List (high evidence)","entity_name":"F5","entity_type":"gene"},{"created":"2025-04-11T18:59:07.401827+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f5 has been classified as Green List (High Evidence).","entity_name":"F5","entity_type":"gene"},{"created":"2025-04-11T18:58:57.780695+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"gene: F5 was added\ngene: F5 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F5 were set to Factor V deficiency, MIM# 227400\nReview for gene: F5 was set to GREEN\nAdded comment: Bleeding tendency to be managed by haematologist, and may include blood products at times of increased risk. \nSources: Expert list","entity_name":"F5","entity_type":"gene"},{"created":"2025-04-11T18:54:46.358551+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCD1 as ready","entity_name":"ABCD1","entity_type":"gene"},{"created":"2025-04-11T18:54:46.352318+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcd1 has been classified as Green List (High Evidence).","entity_name":"ABCD1","entity_type":"gene"},{"created":"2025-04-11T18:54:40.964324+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCD1 as Green List (high evidence)","entity_name":"ABCD1","entity_type":"gene"},{"created":"2025-04-11T18:54:40.957615+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcd1 has been classified as Green List (High Evidence).","entity_name":"ABCD1","entity_type":"gene"},{"created":"2025-04-11T18:54:30.625143+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCD1 was added\ngene: ABCD1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM#300100\nReview for gene: ABCD1 was set to GREEN\nAdded comment: Can infrequently present in adulthood.\r\n\r\nEvaluation by neurologist and MRI brain recommended. Serial adrenal evaluation recommended. \nSources: Expert list","entity_name":"ABCD1","entity_type":"gene"},{"created":"2025-04-11T18:50:03.063253+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC73 as ready","entity_name":"CDC73","entity_type":"gene"},{"created":"2025-04-11T18:50:03.056020+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc73 has been classified as Green List (High Evidence).","entity_name":"CDC73","entity_type":"gene"},{"created":"2025-04-11T18:49:44.393690+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDC73 as Green List (high evidence)","entity_name":"CDC73","entity_type":"gene"},{"created":"2025-04-11T18:49:44.386898+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc73 has been classified as Green List (High Evidence).","entity_name":"CDC73","entity_type":"gene"},{"created":"2025-04-11T18:49:33.912027+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDC73 was added\ngene: CDC73 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000\nReview for gene: CDC73 was set to GREEN\nAdded comment: CDC73-related conditions are considered as a spectrum that includes three phenotypes: HPRT2; hyperparathyroidism 1 (HPRT1; also known as familial isolated hyperparathyroidism or FIHP) and parathyroid carcinoma (PC).\r\n\r\nTo establish the extent of disease and needs in an individual initially diagnosed with HRPT2, the following are recommended:\r\n \r\n•Evaluation for jaw tumors with panoramic jaw x-ray\r\n•Evaluation for renal lesions with ultrasound examination\r\n•Evaluation of standard skeletal and renal end organ damage of pHPT\r\n•Evaluation for uterine tumors with pelvic ultrasound examination, CT, or MRI (starting at reproductive age).\r\n\r\nIndividuals newly diagnosed with any CDC73-related condition who have evidence of pHPT should be evaluated using a 24-hour urine calcium-to-creatinine clearance ratio.\r\n\r\nHypercalcemic individuals (including asymptomatic) with pathogenic variants in CDC73 should be evaluated for pHPT (concomitant calcium and intact [i]PTH levels) and should be managed in consultation with an endocrinologist, with consideration given to referral to a high-volume parathyroid surgeon. \nSources: Expert list","entity_name":"CDC73","entity_type":"gene"},{"created":"2025-04-11T18:44:42.808630+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A15 as ready","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2025-04-11T18:44:42.800965+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a15 has been classified as Green List (High Evidence).","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2025-04-11T18:44:36.489963+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC25A15 as Green List (high evidence)","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2025-04-11T18:44:36.483617+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a15 has been classified as Green List (High Evidence).","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2025-04-11T18:44:24.993850+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A15 was added\ngene: SLC25A15 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A15 were set to Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970\nReview for gene: SLC25A15 was set to GREEN\nAdded comment: Approximately one third of individuals present in adolescence/adulthood.\r\n\r\nLong-term management aims to maintain stable metabolic control, to reduce chronic complications, and to achieve as close to normal development and growth as possible. A low protein diet and citrulline or arginine supplementation is recommended, which prevents hyperammonemia and liver disease but the impact of these measures on pyramidal dysfunction is unclear. Optimal protein intake must be determined by individual titration in every individual. If protein tolerance is very low, essential amino acids have to be supplemented. Vitamin and trace element supplementation may also be required. A specialist metabolic dietitian should be involved.\r\n\r\nNitrogen scavengers (sodium benzoate, sodium phenylbutyrate [PBA] or sodium phenylacetate, glycerol phenylbutyrate) are a mainstay of therapy in individuals with a UCD. Individualized dosing is recommended.\r\n\r\nPresentation can be non-specific and diagnostic delay is common. \nSources: Expert list","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2025-04-11T18:37:52.165271+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNF1B as ready","entity_name":"HNF1B","entity_type":"gene"},{"created":"2025-04-11T18:37:52.156279+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf1b has been classified as Green List (High Evidence).","entity_name":"HNF1B","entity_type":"gene"},{"created":"2025-04-11T18:37:42.677132+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HNF1B as Green List (high evidence)","entity_name":"HNF1B","entity_type":"gene"},{"created":"2025-04-11T18:37:42.667410+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf1b has been classified as Green List (High Evidence).","entity_name":"HNF1B","entity_type":"gene"},{"created":"2025-04-11T18:37:30.962974+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNF1B was added\ngene: HNF1B was added to Additional findings_Adult. Sources: Expert list\nSV/CNV tags were added to gene: HNF1B.\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM# 137920\nReview for gene: HNF1B was set to GREEN\nAdded comment: Treatment is symptomatic and interdisciplinary, requiring nephrologist and diabetologist. Surveillance involves routine blood tests. Although initial response to oral antihyperglycaemic agents including sulfonylureas is common, clinical course tends to be progressive and most ultimately require treatment with insulin. Treatment for renal manifestations can include RRT and kidney transplantation.\r\n\r\nMisdiagnosis and delayed diagnosis of MODY are common. \nSources: Expert list","entity_name":"HNF1B","entity_type":"gene"},{"created":"2025-04-11T18:29:13.901507+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A13 as ready","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2025-04-11T18:29:13.894369+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a13 has been classified as Green List (High Evidence).","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2025-04-11T18:29:06.338607+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC25A13 as Green List (high evidence)","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2025-04-11T18:29:06.331488+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a13 has been classified as Green List (High Evidence).","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2025-04-11T18:28:55.801509+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A13 was added\ngene: SLC25A13 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A13 were set to Citrullinaemia, adult-onset type II, MIM# 603471\nReview for gene: SLC25A13 was set to GREEN\nAdded comment: CTLN2 typically presents in childhood but presents with hyperammonaemia in adolescence or adulthood. Presentation is sudden and usually between ages 20 and 50 years. Misdiagnosis and delayed diagnosis in adults is common.\r\n\r\nPossible interventions include liver transplantation and/or dietary therapy, ongoing blood monitoring, and avoidance of possible triggers (e.g., medications and alcohol).\r\n \r\nIndividuals with UCDs require lifelong monitoring by a multidisciplinary team. Long-term treatment of UCDs is challenging for individuals and families because of the poor palatability (particularly of essential amino acids), the volume and frequency of diet and drug administrations. Nasogastric tube or gastrostomy feeding may be necessary to ensure sufficient energy and/or protein intake. Sodium pyruvate is administered orally as a powder, granules, capsules, tablets, or liquid. \nSources: Expert list","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2025-04-11T15:01:00.667024+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15064763, 15549395, 16437557, 20008656; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087, Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MFN2","entity_type":"gene"},{"created":"2025-04-11T14:54:31.069271+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: 8394174, 8075643, 17044014, 7599633, 18854872, 33673512; Phenotypes: Retinitis pigmentosa-40, MIM#613801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDE6B","entity_type":"gene"},{"created":"2025-04-11T14:26:16.705028+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18060017; Phenotypes: Insensitivity to pain, congenital, MIM# 243000, Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCN9A","entity_type":"gene"},{"created":"2025-04-11T03:39:46.417083+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERPINA1 as ready","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2025-04-11T03:39:46.407827+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpina1 has been classified as Green List (High Evidence).","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2025-04-11T03:39:41.400885+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SERPINA1 as Green List (high evidence)","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2025-04-11T03:39:41.394647+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpina1 has been classified as Green List (High Evidence).","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2025-04-11T03:39:29.575918+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SERPINA1 was added\ngene: SERPINA1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINA1 were set to alpha 1-antitrypsin deficiency, MONDO#0013282\nReview for gene: SERPINA1 was set to GREEN\nAdded comment: MODERATE evidence for actionability in adults by ClinGen.\r\n\r\nSurveillance:\r\nA respiratory functional assessment is suggested at the end of adolescence and afterwards at 2-to-3-year intervals. Respiratory monitoring should include spirometry with bronchodilator test every year, annual plethysmography and carbon monoxide diffusion capacity, and chest CT repeatedly as per medical indication.\r\n\r\nLiver monitoring should include physical examination including focused exam for signs of liver disease, laboratory assessment and abdominal ultrasound every 6 to 12 months (or more frequently as clinically indicated). The serum liver assessment should include transaminases (AST and ALT), alkaline phosphatase, GGT, bilirubin, albumin, coagulation tests, platelets, fat soluble enzymes, and alpha-fetoprotein.\r\n\r\nAlso suggested: additional vaccinations.\r\n\r\nAgents to avoid: tobacco smoke.\r\n\r\nAugmentation therapy of AAT infusions also available.\r\n\r\nCondition is under diagnosed/diagnostic delays are common.\r\n\r\nSome uncertainty about penetrance. \nSources: Expert list","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2025-04-11T03:29:59.814016+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"panel","text":"Panel status changed from public to internal","entity_name":null,"entity_type":null},{"created":"2025-04-11T03:28:55.437966+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2025-04-10T19:56:08.013067+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BLK as ready","entity_name":"BLK","entity_type":"gene"},{"created":"2025-04-10T19:56:08.006450+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: blk has been classified as Red List (Low Evidence).","entity_name":"BLK","entity_type":"gene"},{"created":"2025-04-10T19:56:00.991903+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BLK was added\ngene: BLK was added to Predominantly Antibody Deficiency. Sources: Literature\nMode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BLK were set to 25926555\nPhenotypes for gene: BLK were set to Common variable immunodeficiency, MONDO:0015517\nReview for gene: BLK was set to RED\nAdded comment: Two individuals in a single family heterozygous for a missense variant p.L3P (46 hets in gnomAD v4) reported with CVID. There have been no other reports in the last 10 years. In vitro functional assays of the variant. \nSources: Literature","entity_name":"BLK","entity_type":"gene"},{"created":"2025-04-10T19:44:05.834555+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2448","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BLK as Red List (low evidence)","entity_name":"BLK","entity_type":"gene"},{"created":"2025-04-10T19:44:05.831676+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2448","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Two individuals in a single family heterozygous for a missense variant p.L3P (46 hets in gnomAD v4) reported with CVID. There have been no other reports in the last 10 years.","entity_name":"BLK","entity_type":"gene"},{"created":"2025-04-10T19:44:05.813861+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2448","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: blk has been classified as Red List (Low Evidence).","entity_name":"BLK","entity_type":"gene"},{"created":"2025-04-10T17:28:34.747672+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 38735647, 25480986, 33818269, 32758583, 30097146; Phenotypes: Boucher-Neuhauser syndrome MIM#215470, Oliver-McFarlane syndrome MIM#275400, Spastic paraplegia 39, autosomal recessive MIM#612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2025-04-10T17:19:44.878986+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9731525, 10946356, 12884430, 17853471, 18523455, 24556213, 25666757, 27753653, 28481730, 28126652; Phenotypes: Intellectual developmental disorder, X-linked 30 MIM#300558; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PAK3","entity_type":"gene"},{"created":"2025-04-10T17:14:51.772442+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Schindler disease, type I MIM#609241, Schindler disease, type III MIM#609241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAGA","entity_type":"gene"},{"created":"2025-04-10T17:13:20.284557+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.\r\n\r\nBoyadjiev et al 2006 (PMID:16980979): One family was reported with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.\r\n\r\nBoyadjiev et al 2011 (PMID: 21039434): The same authors as above later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected. They suggest digenic inheritance but found no other variants in 3 candidate genes.\r\n\r\nWang et al 2023 (PMID: 37828500): 2 x compound heterozygous missense variants were identified in a patient with CLSD.\r\n\r\nCisarova et al 2022 (PMID: 34580982) 1 x patient with het missense variant inherited from his affected father. Shown to be de novo in the father.\r\n\r\nMinale et al 2024 (PMID: 38275611): 1 x patient with de novo het missense variant\r\n\r\nZebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978)\r\n\r\nSummary: 2 reports of AR inheritance, 2 reports of AD inheritance, 1 uncertain; to: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.\r\n\r\nBoyadjiev et al 2006 (PMID:16980979): One family was reported with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.\r\n\r\nBoyadjiev et al 2011 (PMID: 21039434): The same authors as above later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected. They suggest digenic inheritance but found no other variants in 3 candidate genes.\r\n\r\nWang et al 2023 (PMID: 37828500): 2 x compound heterozygous missense variants were identified in a patient with CLSD.\r\n\r\nCisarova et al 2022 (PMID: 34580982) 1 x patient with CLSD and a het missense variant inherited from his affected father. Shown to be de novo in the father.\r\n\r\nMinale et al 2024 (PMID: 38275611): 1 x patient with CLSD and a de novo het missense variant\r\n\r\nZebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978)\r\n\r\nSummary: 2 reports of AR inheritance, 2 reports of AD inheritance, 1 uncertain","entity_name":"SEC23A","entity_type":"gene"},{"created":"2025-04-10T17:10:02.437074+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: SEC23A: Changed rating: RED; Changed publications: 16980979, 21039434, 16980978, 27148587, 37828500, 34580982, 38275611","entity_name":"SEC23A","entity_type":"gene"},{"created":"2025-04-10T17:09:01.896766+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587, 37828500, 34580982, PMID: 38275611; Phenotypes: Craniolenticulosutural dysplasia, MIM#607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEC23A","entity_type":"gene"},{"created":"2025-04-10T17:05:56.995731+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25537362, 25612909, 8653786, 31750350, 15496425, 19949040, 20371544, 32253145; Phenotypes: Fetal akinesia deformation sequence 1 MIM#208150, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MUSK","entity_type":"gene"},{"created":"2025-04-10T17:01:02.662275+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380, 34078172, 34052173, 33258201; Phenotypes: Abetalipoproteinemia MIM#200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTTP","entity_type":"gene"},{"created":"2025-04-10T16:58:04.738380+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32414565, 19033438; Phenotypes: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MIM#617780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTHFD1","entity_type":"gene"},{"created":"2025-04-10T16:15:42.991591+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Bardet-Biedl syndrome 13 MIM#615990, Joubert syndrome 28 MIM#617121, Meckel syndrome 1 MIM#249000, Ciliopathy MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2025-04-10T16:04:26.426114+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19361614, 27380894, 34902613, 14708109, 22105905, 24313295, 19689518, 24090718, 21600032; Phenotypes: IFAP syndrome with or without BRESHECK syndrome MIM#308205, Osteogenesis imperfecta, type XIX MIM#301014; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2025-04-10T15:13:17.476500+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896560, 9215680, 31906877, 9215679, 26499269, 24112114, 28145517; Phenotypes: Chediak-Higashi syndrome MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LYST","entity_type":"gene"},{"created":"2025-04-10T15:06:37.060487+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 37053367, 23395477, 38555393; Phenotypes: Albinism, oculocutaneous, type VII MIM#615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRMDA","entity_type":"gene"},{"created":"2025-04-10T14:47:58.432758+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337, 26537577, 23541342; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia MIM#617021, Perrault syndrome 4 MIM#615300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARS2","entity_type":"gene"},{"created":"2025-04-10T14:37:41.007387+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21552264, 36580738, 21633164, 19666503, 30445565, 26648833, 26349186, 26174511, 25714560; Phenotypes: Al-Gazali-Bakalinova syndrome MIM#607131, Hydrolethalus syndrome 2 MIM#614120, Acrocallosal syndrome MIM#200990, Joubert syndrome 12 MIM#200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF7","entity_type":"gene"},{"created":"2025-04-10T14:21:27.749788+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834, 25558065; Phenotypes: Alkuraya-Kucinskas syndrome MIM#617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIAA1109","entity_type":"gene"},{"created":"2025-04-10T14:16:25.267692+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909397, 18235024, 21882291, 15722315, 30820446, 21882291, 23115240; Phenotypes: Inherited retinal dystrophy MONDO:0019118, Retinal cone dystrophy 3B MIM#610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNV2","entity_type":"gene"},{"created":"2025-04-10T14:10:23.535206+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: None; Publications: 28190456, 28190459, 28940338, 31630891, 33193651, 33792664; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-04-10T14:07:27.884294+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183, 26763875, 25168386, 24140113, 25168386; Phenotypes: Bardet-Biedl syndrome 20 MIM#619471, Retinitis pigmentosa 71 MIM#616394, Short-rib thoracic dysplasia 10 with or without polydactyly MIM#615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT172","entity_type":"gene"},{"created":"2025-04-10T13:51:44.683596+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 25609768, 28913435, 28671726, 30258207; Phenotypes: Mitochondrial disease MONDO:0044970, Multiple mitochondrial dysfunctions syndrome 3 MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IBA57","entity_type":"gene"},{"created":"2025-04-10T13:46:13.212661+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4 MIM#612233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSPD1","entity_type":"gene"},{"created":"2025-04-10T13:39:27.959180+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3 MIM#614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS3","entity_type":"gene"},{"created":"2025-04-10T13:34:59.783579+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12469120, 12490283, 34828384, 15198949; Phenotypes: Hemochromatosis, type 2B MIM#613313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HAMP","entity_type":"gene"},{"created":"2025-04-10T13:22:20.801875+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: 1835339, 10347277, 10931422; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HADH","entity_type":"gene"},{"created":"2025-04-10T13:08:57.541392+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616481, 32812332, 28726266, 35806855; Phenotypes: Lethal congenital contracture syndrome 11 MIM#617194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLDN","entity_type":"gene"},{"created":"2025-04-10T12:50:11.696329+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal MIM#608013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA","entity_type":"gene"},{"created":"2025-04-10T12:02:52.352444+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15342698, 18081026, 15162322, 26310293; Phenotypes: Intellectual developmental disorder, X-linked 9 MIM#309549, X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FTSJ1","entity_type":"gene"},{"created":"2025-04-10T11:58:26.796860+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12766769, 18671281, 16894541, 17163535; Phenotypes: Fraser syndrome 1 MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FRAS1","entity_type":"gene"},{"created":"2025-04-10T11:54:00.420640+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265013, 24773188, 27149304, 31132235, 30561154, 28617417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKBP14","entity_type":"gene"},{"created":"2025-04-10T11:49:54.180283+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564959, 31152969, 28847448, 28543957, 17564972; Phenotypes: Charcot-Marie-Tooth disease, type 4H MIM#609311, Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FGD4","entity_type":"gene"},{"created":"2025-04-10T11:45:46.153659+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19405097, 25754594, 33394227, 33224012, 12973351, 31513304; Phenotypes: Fanconi anemia, complementation group L MIM#614083; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCL","entity_type":"gene"},{"created":"2025-04-10T11:42:06.366268+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301575, 17436244, 25703294, 23613520; Phenotypes: Fanconi anemia, complementation group D2 MIM#227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCD2","entity_type":"gene"},{"created":"2025-04-10T11:38:23.712961+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAM20C","entity_type":"gene"},{"created":"2025-04-10T11:34:33.405393+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 19158808, 21484434, 18263758, 25843247, 25761052, 28904586, 28597716; Phenotypes: Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EIF2B3","entity_type":"gene"},{"created":"2025-04-10T11:26:27.342111+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"gene: POLE was added\ngene: POLE was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLE were set to 30503519; 23230001; 25948378; 36071887\nPhenotypes for gene: POLE were set to IMAGE-I syndrome\tMIM#618336; FILS syndrome\tMIM#615139\nReview for gene: POLE was set to GREEN\nAdded comment: IMAGE-I Syndrome\r\nAutosomal recessive disorder characterised by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. Patients exhibit distinctive facial features and variable immune dysfunction with evidence of lymphocyte deficiency.\r\nWell established gene-disease association. Reported in greater than 10 families.\r\nNote recurrent intronic variant, c.1686+32C-G (intron 15) in IMAGE-I, found in combination with multiple other variants.\r\n\r\nFILS syndrome\r\nFILS syndrome is characterised by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature.\r\nPMID: 23230001 - French consanguineoius kindred: 11 affected individuals displayed mild facial dysmorphism, immunodeficiency, livedo, and short stature. 3 additional members displayed two or three of these four features. Homozygous for splicing site variant: c.4444+3A>G.\r\nPMID: 25948378 - Palestinian girl, with same homozygous variant as reported in French family.\r\nPMID: 36071887 - 4y.o. Chinese boy with c.5811 + 2T > C and c.2006G > A variants.\r\nPMID: 32705701 - 6y.o. hispanic boy reported with homozygous c.100C>T(p.Arg34Cys\r\nTotal of 14 affected individuals across 4 families. \nSources: Literature","entity_name":"POLE","entity_type":"gene"},{"created":"2025-04-10T10:50:02.809972+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"gene: CHMP1A was added\ngene: CHMP1A was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHMP1A were set to 23023333; 37789895\nPhenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8\tMIM#614961\nReview for gene: CHMP1A was set to AMBER\nAdded comment: Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterised by severe psychomotor impediment, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum.\r\n\r\nZebrafish model present. \r\nPMID: 23023333 - Three families reported, 2 variants; two families likely with founder effect.\r\nPMID: 37789895 - describe novel variants in an affected individual, one is deletion of exon 1, other is c.53 T > C (p.Leu18Pro).\r\nTotal 4 families now reported with 4 variants. \nSources: Literature","entity_name":"CHMP1A","entity_type":"gene"},{"created":"2025-04-10T10:35:56.985839+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Andrew Coventry","item_type":"entity","text":"gene: POLR1D was added\ngene: POLR1D was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POLR1D were set to 21131976; 24603435; 27448281; 25790162\nPhenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 MIM#613717\nReview for gene: POLR1D was set to AMBER\nAdded comment: Treacher Collins syndrome is a disorder of craniofacial development characterised by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.\r\n\r\nCurrently, only one study reporting AR TCS, 1 pathogenic variant in 4 affected individuals, across 2 unrelated consanguineous families. PMID: 24603435.\r\nAdding gene, requiring further evidence in humans for consideration for inclusion in screening of AR TCS. \nSources: Literature","entity_name":"POLR1D","entity_type":"gene"},{"created":"2025-04-09T23:55:00.453511+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPOUT1 were changed from complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, MIM# 621154","entity_name":"SPOUT1","entity_type":"gene"},{"created":"2025-04-09T23:54:29.259797+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, MIM# 621154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPOUT1","entity_type":"gene"},{"created":"2025-04-09T23:54:06.877533+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPOUT1 were changed from complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, MIM# 621154","entity_name":"SPOUT1","entity_type":"gene"}]}