{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=790","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=788","results":[{"created":"2022-07-26T14:01:09.981867+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670; Mode of inheritance: None","entity_name":"FOXP1","entity_type":"gene"},{"created":"2022-07-26T13:59:11.408963+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CYP19A1.","entity_name":"CYP19A1","entity_type":"gene"},{"created":"2022-07-26T13:58:38.438012+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Tag mtDNA tag was added to gene: MT-ND6.","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2022-07-26T13:57:40.764762+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: WNT10A was added\ngene: WNT10A was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: WNT10A were set to 19559398; 30426266\nPhenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia 257980 AR; Schopf-Schulz-Passarge syndrome 224750 AR; Tooth agenesis, selective, 4 150400 AR, AD\nPenetrance for gene: WNT10A were set to Incomplete\nReview for gene: WNT10A was set to RED\nAdded comment: Well established gene disease association.\r\n\r\nGenotype-phenotype correlation is unclear. The same variant has been associated with all 3 phenotypes and both AR and AD inheritance. Variable expressivity, however milder phenotypes seem to be associated with AD (PMID: 19559398; 30426266) \nSources: Literature","entity_name":"WNT10A","entity_type":"gene"},{"created":"2022-07-26T13:52:15.290743+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: TFR2 was added\ngene: TFR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFR2 were set to 29743178\nPhenotypes for gene: TFR2 were set to Hemochromatosis, type 3, MIM#604250\nReview for gene: TFR2 was set to AMBER\nAdded comment: Age of onset in individuals with TFR2-HHC is earlier than in individuals with HFE-associated hereditary hemochromatosis (Gene Reviews)\r\n\r\nPMID: 29743178: Mean age at diagnosis for TFR2 HH (32 years) was significantly higher than for HJV HH \nSources: Literature","entity_name":"TFR2","entity_type":"gene"},{"created":"2022-07-26T13:47:33.214272+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WASL as ready","entity_name":"WASL","entity_type":"gene"},{"created":"2022-07-26T13:47:33.195011+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wasl has been classified as Red List (Low Evidence).","entity_name":"WASL","entity_type":"gene"},{"created":"2022-07-26T13:45:54.056815+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: TECPR2 was added\ngene: TECPR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TECPR2 were set to 23176824; 26542466; 35130874\nPhenotypes for gene: TECPR2 were set to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031\nReview for gene: TECPR2 was set to GREEN\nAdded comment: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent \nSources: Literature","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-07-26T13:37:16.888847+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: TAT was added\ngene: TAT was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAT were set to 16574453\nPhenotypes for gene: TAT were set to Tyrosinemia, type II\t(MIM#276600)\nReview for gene: TAT was set to AMBER\nAdded comment: Well established gene-disease association. Also known as Richner-Hanhart syndrome, the clinical hallmarks consist of a triad of painful palmoplantar keratoderma, keratitis with photophobia and variable mental impairment.\r\n\r\nRHS shows inter and intrafamilial phenotypic variability. Phenotype variability observed even among individuals sharing the same pathogenic variant. \nSources: Literature","entity_name":"TAT","entity_type":"gene"},{"created":"2022-07-26T13:25:38.096434+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WASL as ready","entity_name":"WASL","entity_type":"gene"},{"created":"2022-07-26T13:25:38.083987+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wasl has been classified as Red List (Low Evidence).","entity_name":"WASL","entity_type":"gene"},{"created":"2022-07-26T13:25:28.593613+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WASL were changed from Early onset parkinsonism to Parkinson's disease, MONDO:0005180, WASL-related","entity_name":"WASL","entity_type":"gene"},{"created":"2022-07-26T13:25:27.755895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WASL was added\ngene: WASL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WASL were set to 33571872\nPhenotypes for gene: WASL were set to Parkinson's disease, MONDO:0005180, WASL-related\nReview for gene: WASL was set to RED\nAdded comment: Single family reported, where bi-allelic variants segregated with PD in three affected individuals. \nSources: Literature","entity_name":"WASL","entity_type":"gene"},{"created":"2022-07-26T13:23:58.059020+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WASL as Red List (low evidence)","entity_name":"WASL","entity_type":"gene"},{"created":"2022-07-26T13:23:58.047650+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wasl has been classified as Red List (Low Evidence).","entity_name":"WASL","entity_type":"gene"},{"created":"2022-07-26T13:23:33.254191+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: SLC4A11 was added\ngene: SLC4A11 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A11 were set to 26451371; 20118786; 21203343\nPhenotypes for gene: SLC4A11 were set to Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700\nReview for gene: SLC4A11 was set to AMBER\nAdded comment: Well established gene-disease association. Inter- and intra-familial variability and no genotype-phenotype correlation \nSources: Literature","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2022-07-26T13:23:17.909577+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WASL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson's disease, MONDO:0005180, WASL-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WASL","entity_type":"gene"},{"created":"2022-07-26T13:20:51.701534+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMT2B as ready","entity_name":"KMT2B","entity_type":"gene"},{"created":"2022-07-26T13:20:51.685361+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2b has been classified as Green List (High Evidence).","entity_name":"KMT2B","entity_type":"gene"},{"created":"2022-07-26T13:20:49.266396+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KMT2B were changed from DYT28; Childhood‐onset and progressive dystonia; Dysarthria; Dysphagia; Developmental delay; Dysmorphic features; Parkinsonism; OMIM 617284 to Dystonia 28, childhood-onset , MIM#617284","entity_name":"KMT2B","entity_type":"gene"},{"created":"2022-07-26T13:20:11.567052+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KMT2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KMT2B","entity_type":"gene"},{"created":"2022-07-26T13:19:42.212571+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KMT2B as Green List (high evidence)","entity_name":"KMT2B","entity_type":"gene"},{"created":"2022-07-26T13:19:42.203544+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2b has been classified as Green List (High Evidence).","entity_name":"KMT2B","entity_type":"gene"},{"created":"2022-07-26T13:19:10.505480+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 28, childhood-onset , MIM#617284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KMT2B","entity_type":"gene"},{"created":"2022-07-26T13:16:13.560585+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA as ready","entity_name":"GBA","entity_type":"gene"},{"created":"2022-07-26T13:16:13.551707+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Green List (High Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2022-07-26T13:16:11.354543+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBA were changed from Gaucher Disease Type 1; Early onset parkinsonism; Bone lesions; Hepatosplenomegaly; Hematologic disorders; OMIM 230800 to Parkinson's disease, MONDO:0005180, GBA-related","entity_name":"GBA","entity_type":"gene"},{"created":"2022-07-26T13:16:10.231201+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: SLC26A4 was added\ngene: SLC26A4 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC26A4 were set to 24599119\nPhenotypes for gene: SLC26A4 were set to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791); Pendred syndrome (MIM#274600)\nReview for gene: SLC26A4 was set to AMBER\nAdded comment: PDS and NSEVA are considered a disease spectrum and are distinguishable based on the presence of thyroid dysfunction in PDS (GeneReviews).\r\n\r\nIn relation to severity of hearing, there's no correlation between missense vs PTCs. There was great variation in hearing loss severity with the same mutations. Phenotype cannot be predicted from the genotype (PMID: 24599119) \nSources: Literature","entity_name":"SLC26A4","entity_type":"gene"},{"created":"2022-07-26T13:15:39.735343+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GBA were set to PMID: 12809640","entity_name":"GBA","entity_type":"gene"},{"created":"2022-07-26T13:15:00.187782+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GBA was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GBA","entity_type":"gene"},{"created":"2022-07-26T13:14:30.551644+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GBA as Green List (high evidence)","entity_name":"GBA","entity_type":"gene"},{"created":"2022-07-26T13:14:30.534703+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Green List (High Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2022-07-26T13:13:55.894838+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35639160; Phenotypes: Parkinson's disease,  MONDO:0005180, GBA-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GBA","entity_type":"gene"},{"created":"2022-07-26T13:07:44.308449+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FRRS1L as ready","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2022-07-26T13:07:44.293291+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frrs1l has been classified as Green List (High Evidence).","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2022-07-26T13:07:41.322528+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FRRS1L were changed from Developmental and epileptic dyskinetic encephalopathy; Seizures; Chorea; Parkinsonism; Developmental delay; OMIM 616981 to Developmental and epileptic encephalopathy 37, MIM# 616981; Seizures; Chorea; Parkinsonism; Developmental delay","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2022-07-26T13:06:53.832121+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FRRS1L as Green List (high evidence)","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2022-07-26T13:06:53.823091+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frrs1l has been classified as Green List (High Evidence).","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2022-07-26T13:06:21.768126+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 37, MIM# 616981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2022-07-26T13:04:55.770501+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: SLC12A3 was added\ngene: SLC12A3 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC12A3 were set to 8528245; 11102542\nPhenotypes for gene: SLC12A3 were set to Gitelman syndrome\t(MIM#263800)\nReview for gene: SLC12A3 was set to AMBER\nAdded comment: Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most individuals have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis.\r\n\r\nWell established gene-disease association. \nSources: Literature","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-07-26T13:04:40.640547+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CYP11B1.","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-07-26T12:56:43.164877+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: RS1 was added\ngene: RS1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RS1 were set to 15932525; 23453514; 23847049\nPhenotypes for gene: RS1 were set to Retinoschisis (MIM#312700)\nReview for gene: RS1 was set to AMBER\nAdded comment: - This gene is known to be associated with X-linked recessive disease, however, some affected females have been reported (OMIM).\r\n- May not clinically manifest until middle life (OMIM)\r\n- Many PTCs and missense reported. All result in same XLRS phenotype (although expression can be variable). Also a knockout mouse with similar phenotype.\r\n- PTCs and missense involving cysteines tend to result in a more severe phenotype, whereas other missense can vary widely in severity (PMID: 23847049). \nSources: Literature","entity_name":"RS1","entity_type":"gene"},{"created":"2022-07-26T12:52:49.349763+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: PYGM was added\ngene: PYGM was added to Reproductive Carrier Screen_VCGS. Sources: Literature\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 AMBER\nAdded comment: Gene-disease association for bi-allelic variants is well established. \r\n\r\nMcCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria\r\n\r\nClinical heterogeneity exists; about 10% of all affected individuals have mild manifestations (e.g., fatigue or poor stamina without contractures) and remain virtually asymptomatic during daily activities of living(Gene Reviews) \nSources: Literature","entity_name":"PYGM","entity_type":"gene"},{"created":"2022-07-26T12:45:39.618233+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: OAT was added\ngene: OAT was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OAT were set to 33463379; 34340878\nPhenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia\t(MIM#258870)\nReview for gene: OAT was set to AMBER\nAdded comment: Biallelic variants associated with deficiency of mitochondrial enzyme ornithine aminotransferase and elevation of plasma ornithine levels without elevation of ammonia. Characterized by ocular anomalies; however, neurological and muscular features may also be present.\r\n\r\nThere is evidence of intra-familial variability. \nSources: Literature","entity_name":"OAT","entity_type":"gene"},{"created":"2022-07-26T12:36:52.614308+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: NR2E3 was added\ngene: NR2E3 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: NR2E3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NR2E3 were set to 32679203; 33138239; 19139342; 26910043\nPhenotypes for gene: NR2E3 were set to Enhanced S-cone syndrome (MIM#268100); Retinitis pigmentosa 37 (MIM#611131)\nReview for gene: NR2E3 was set to AMBER\nAdded comment: Both biallelic and monoallelic variants associated with a range of phenotypes including retinitis pigments (NR2E3-related retinal dystrophy). Highly variable phenotype. \r\n\r\nPMID: 26910043: Single variant associated with a wide range of phenotypic characteristics \nSources: Literature","entity_name":"NR2E3","entity_type":"gene"},{"created":"2022-07-26T12:19:16.383739+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: MEFV was added\ngene: MEFV was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MEFV were set to Familial Mediterranean fever, AR (MIM#249100)\nPenetrance for gene: MEFV were set to Incomplete\nReview for gene: MEFV was set to AMBER\nAdded comment: Well established association. Predominantly bi-allelic, though a limited range of heterozygous variants have been associated with disease. \nSources: Literature","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-07-26T12:14:07.667424+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: MCCC2 was added\ngene: MCCC2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210)\nReview for gene: MCCC2 was set to RED\nAdded comment: Variants in this gene cause a biochemical defect. Relationship to clinical features is less certain.\r\n\r\nVariants in this gene have been reported in multiple individuals with ID/regression/neurological phenotypes. However, ascertainment through NBS programs indicates most individuals remain asymptomatic and therefore caution should be applied in interpreting the clinical significance of variants in this gene (though they undoubtedly cause a biochemical phenotype). \nSources: Literature","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-07-26T11:58:25.567550+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPL as ready","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-07-26T11:58:25.555420+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpl has been classified as Red List (Low Evidence).","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-07-26T11:57:59.682942+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALPL were changed from Hypophosphatasia; Osteomalacia; Parkinsonism; OMIM 146300 to Hypophosphatasia, adult, MIM# 146300; Osteomalacia; Parkinsonism","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-07-26T11:57:11.649101+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALPL as Red List (low evidence)","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-07-26T11:57:11.636799+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpl has been classified as Red List (Low Evidence).","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-07-26T11:56:39.528242+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALPL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia, adult, MIM# 146300; Mode of inheritance: None","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-07-26T11:54:20.998789+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CERKL.","entity_name":"CERKL","entity_type":"gene"},{"created":"2022-07-26T11:53:48.898635+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAR as ready","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-07-26T11:53:48.871207+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adar has been classified as Green List (High Evidence).","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-07-26T11:53:09.171917+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"gene: MCCC1 was added\ngene: MCCC1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCCC1 were set to 31730530\nPhenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200)\nReview for gene: MCCC1 was set to RED\nAdded comment: Highly variable phenotype. May present in infancy but also be present in asymptomatic adults (OMIM)\r\n\r\nVariants in this gene cause a biochemical defect. The relationship to clinical phenotype has been questioned by NBS programs, PMID 31730530. \nSources: Literature","entity_name":"MCCC1","entity_type":"gene"},{"created":"2022-07-26T11:49:15.314412+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAR as Green List (high evidence)","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-07-26T11:49:15.302662+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adar has been classified as Green List (High Evidence).","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-07-26T11:48:25.278873+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: BTD.","entity_name":"BTD","entity_type":"gene"},{"created":"2022-07-26T11:46:28.350116+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: AIRE.","entity_name":"AIRE","entity_type":"gene"},{"created":"2022-07-26T11:45:31.727410+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNE1 as ready","entity_name":"KCNE1","entity_type":"gene"},{"created":"2022-07-26T11:45:31.714290+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcne1 has been classified as Red List (Low Evidence).","entity_name":"KCNE1","entity_type":"gene"},{"created":"2022-07-26T11:45:27.517119+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNE1 were changed from Jervell and Lange-Nielsen syndrome 2, 612347 (3) to Jervell and Lange-Nielsen syndrome 2, MIM# 612347","entity_name":"KCNE1","entity_type":"gene"},{"created":"2022-07-26T11:45:03.551852+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNE1 as Red List (low evidence)","entity_name":"KCNE1","entity_type":"gene"},{"created":"2022-07-26T11:45:03.542682+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcne1 has been classified as Red List (Low Evidence).","entity_name":"KCNE1","entity_type":"gene"},{"created":"2022-07-26T11:44:52.170439+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"KCNE1","entity_type":"gene"},{"created":"2022-07-26T11:44:01.447628+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: VPS13A.","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-07-26T11:43:36.283709+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TH as ready","entity_name":"TH","entity_type":"gene"},{"created":"2022-07-26T11:43:36.275749+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: th has been classified as Green List (High Evidence).","entity_name":"TH","entity_type":"gene"},{"created":"2022-07-26T11:43:33.275652+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TH were changed from Segawa syndrome, recessive, 605407 (3) to Segawa syndrome, recessive, MIM# 605407","entity_name":"TH","entity_type":"gene"},{"created":"2022-07-26T11:42:53.454677+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPG11 as ready","entity_name":"SPG11","entity_type":"gene"},{"created":"2022-07-26T11:42:53.437815+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spg11 has been classified as Green List (High Evidence).","entity_name":"SPG11","entity_type":"gene"},{"created":"2022-07-26T11:42:50.312108+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive, 604360 (3) to Spastic paraplegia 11, autosomal recessive, MIM# 604360","entity_name":"SPG11","entity_type":"gene"},{"created":"2022-07-26T11:42:37.016180+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPG11 were set to ","entity_name":"SPG11","entity_type":"gene"},{"created":"2022-07-26T11:39:35.727409+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPART as ready","entity_name":"SPART","entity_type":"gene"},{"created":"2022-07-26T11:39:35.683073+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spart has been classified as Green List (High Evidence).","entity_name":"SPART","entity_type":"gene"},{"created":"2022-07-26T11:39:21.483042+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPART were changed from Troyer syndrome, 275900 (3) to Troyer syndrome (MIM#275900); SPG20; MONDO:0010156","entity_name":"SPART","entity_type":"gene"},{"created":"2022-07-26T11:39:09.160059+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPART were set to ","entity_name":"SPART","entity_type":"gene"},{"created":"2022-07-26T11:38:30.981198+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SETX as ready","entity_name":"SETX","entity_type":"gene"},{"created":"2022-07-26T11:38:30.963781+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setx has been classified as Green List (High Evidence).","entity_name":"SETX","entity_type":"gene"},{"created":"2022-07-26T11:38:27.915851+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SETX were changed from Spinocerebellar ataxia, autosomal recessive 1, 606002 (3) to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002)","entity_name":"SETX","entity_type":"gene"},{"created":"2022-07-26T11:38:16.297151+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SETX were set to ","entity_name":"SETX","entity_type":"gene"},{"created":"2022-07-26T11:37:30.129082+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLA2G6 as ready","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-07-26T11:37:30.117090+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g6 has been classified as Green List (High Evidence).","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-07-26T11:37:26.277237+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLA2G6 were changed from Neurodegeneration with brain iron accumulation 2B, 610217 (3) to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-07-26T11:37:14.731120+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLA2G6 were set to ","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-07-26T11:36:36.417285+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PANK2 as ready","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-07-26T11:36:36.409040+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank2 has been classified as Green List (High Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-07-26T11:36:27.688868+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, 234200 (3) to Neurodegeneration with brain iron accumulation 1, MIM#234200","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-07-26T11:36:13.865957+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PANK2 were set to ","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-07-26T11:35:38.089802+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPC2 as ready","entity_name":"NPC2","entity_type":"gene"},{"created":"2022-07-26T11:35:38.073202+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npc2 has been classified as Green List (High Evidence).","entity_name":"NPC2","entity_type":"gene"},{"created":"2022-07-26T11:35:23.751394+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2, 607625 (3) to Niemann-pick disease, type C2, MIM#607625","entity_name":"NPC2","entity_type":"gene"},{"created":"2022-07-26T11:35:11.578118+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPC2 were set to ","entity_name":"NPC2","entity_type":"gene"},{"created":"2022-07-26T11:34:09.707412+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPC1 as ready","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-07-26T11:34:09.684886+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npc1 has been classified as Green List (High Evidence).","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-07-26T11:34:06.730521+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type C1, 257220 (3) to Niemann-Pick disease, type C1, MIM#257220","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-07-26T11:33:54.710407+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPC1 were set to ","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-07-26T11:32:39.572550+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Restrictive dermopathy, lethal, MIM#275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LMNA","entity_type":"gene"}]}