{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=626","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=624","results":[{"created":"2023-03-23T11:35:14.087922+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 12, OMIM #612540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CNTN1","entity_type":"gene"},{"created":"2023-03-23T11:33:55.406948+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1S as ready","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-03-23T11:33:55.399837+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1s has been classified as Green List (High Evidence).","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-03-23T11:32:55.083477+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B3GALT6 as ready","entity_name":"B3GALT6","entity_type":"gene"},{"created":"2023-03-23T11:32:55.070002+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3galt6 has been classified as Amber List (Moderate Evidence).","entity_name":"B3GALT6","entity_type":"gene"},{"created":"2023-03-23T11:32:30.887309+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VRK1 as ready","entity_name":"VRK1","entity_type":"gene"},{"created":"2023-03-23T11:32:30.879567+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vrk1 has been classified as Amber List (Moderate Evidence).","entity_name":"VRK1","entity_type":"gene"},{"created":"2023-03-23T11:32:12.502495+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP3CA as ready","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-03-23T11:32:12.492030+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp3ca has been classified as Green List (High Evidence).","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-03-23T11:31:42.893525+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMM2 as ready","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-23T11:31:42.885922+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmm2 has been classified as Green List (High Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-23T11:31:07.881986+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMNA as ready","entity_name":"LMNA","entity_type":"gene"},{"created":"2023-03-23T11:31:07.874554+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmna has been classified as Green List (High Evidence).","entity_name":"LMNA","entity_type":"gene"},{"created":"2023-03-23T11:30:38.288589+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLVCR2 as ready","entity_name":"FLVCR2","entity_type":"gene"},{"created":"2023-03-23T11:30:38.277861+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flvcr2 has been classified as Green List (High Evidence).","entity_name":"FLVCR2","entity_type":"gene"},{"created":"2023-03-23T11:30:13.041840+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BIN1 as ready","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-03-23T11:30:13.031029+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bin1 has been classified as Green List (High Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-03-23T11:29:54.563110+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM5 as ready","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T11:29:54.548634+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem5 has been classified as Red List (Low Evidence).","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T11:29:51.963506+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM5 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T11:29:25.857251+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T11:28:36.514007+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM20C as ready","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-03-23T11:28:36.502711+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20c has been classified as Amber List (Moderate Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-03-23T11:28:28.829053+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FAM20C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-03-23T11:27:53.000215+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAM20C were changed from  to Raine syndrome, MIM# 259775","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-03-23T11:26:38.835059+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAG1 as ready","entity_name":"DAG1","entity_type":"gene"},{"created":"2023-03-23T11:26:38.820683+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dag1 has been classified as Red List (Low Evidence).","entity_name":"DAG1","entity_type":"gene"},{"created":"2023-03-23T11:26:35.853663+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DAG1 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)","entity_name":"DAG1","entity_type":"gene"},{"created":"2023-03-23T11:22:44.115420+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B3GALNT2 as ready","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2023-03-23T11:22:44.104829+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3galnt2 has been classified as Red List (Low Evidence).","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2023-03-23T11:22:40.434780+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B3GALNT2 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2023-03-23T11:19:29.758427+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.385","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SLC35A3 as Green List (high evidence)","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2023-03-23T11:19:29.748427+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.385","user_name":"Chirag Patel","item_type":"entity","text":"Gene: slc35a3 has been classified as Green List (High Evidence).","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2023-03-23T11:18:39.751172+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.384","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: LIFR as Green List (high evidence)","entity_name":"LIFR","entity_type":"gene"},{"created":"2023-03-23T11:18:39.744052+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.384","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lifr has been classified as Green List (High Evidence).","entity_name":"LIFR","entity_type":"gene"},{"created":"2023-03-23T11:18:20.320202+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.384","user_name":"Chirag Patel","item_type":"entity","text":"gene: SLC35A3 was added\ngene: SLC35A3 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC35A3 were set to PMID: 28777481, 24031089, 28328131, 33416188\nPhenotypes for gene: SLC35A3 were set to Arthrogryposis, impaired intellectual development, and seizures, OMIM #615553\nReview for gene: SLC35A3 was set to GREEN\nAdded comment: Arthrogryposis, impaired intellectual development, and seizures (AMRS) is an autosomal recessive disorder characterized by skeletal abnormalities, including arthrogryposis, short limbs, and vertebral malformations, impaired intellectual development, and seizures consistent with early-onset epileptic encephalopathy in some patients. Other features may include cleft palate, micrognathia, posterior embryotoxon, talipes valgus, rocker-bottom feet, and dysmorphic facies. \r\n\r\n4 families with 12 affected individuals reported with biallelic variants in SLC35A3 gene. Functional studies in one family showed patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlcNAc compared to controls. \nSources: Expert list","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2023-03-23T11:13:04.796847+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.383","user_name":"Chirag Patel","item_type":"entity","text":"gene: LIFR was added\ngene: LIFR was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIFR were set to PMID: 9674905, 9674906, 14740318, 24988918, 35663789\nPhenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM #601559\nReview for gene: LIFR was set to GREEN\nAdded comment: Patients reported as having either neonatal SJS or STWS presented a combination of a severe, prenatal-onset neuromuscular disorder with congenital joint contractures, respiratory and feeding difficulties, tendency to hyperthermia, and frequent death in infancy and a distinct campomelic-metaphyseal skeletal dysplasia. Multiple families with biallelic variants in LIFR gene reported. \nSources: Expert list","entity_name":"LIFR","entity_type":"gene"},{"created":"2023-03-23T11:08:39.766811+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.382","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KY as Green List (high evidence)","entity_name":"KY","entity_type":"gene"},{"created":"2023-03-23T11:08:39.755884+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.382","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ky has been classified as Green List (High Evidence).","entity_name":"KY","entity_type":"gene"},{"created":"2023-03-23T11:06:24.303906+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.381","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KIF5C as Green List (high evidence)","entity_name":"KIF5C","entity_type":"gene"},{"created":"2023-03-23T11:06:24.284716+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.381","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kif5c has been classified as Green List (High Evidence).","entity_name":"KIF5C","entity_type":"gene"},{"created":"2023-03-23T11:06:04.457790+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.381","user_name":"Chirag Patel","item_type":"entity","text":"gene: KY was added\ngene: KY was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KY were set to PMID: 27484770, 27485408, 30591934, 35752288\nPhenotypes for gene: KY were set to Myopathy, myofibrillar, 7, OMIM #617114\nReview for gene: KY was set to GREEN\nAdded comment: Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures. 4 families with 6 affected individuals, with homozygous variants in KY gene.  Immunostaining showed absence of the KY protein in patient muscle, consistent with a loss of function in one family. \nSources: Expert list","entity_name":"KY","entity_type":"gene"},{"created":"2023-03-23T11:02:24.142967+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.380","user_name":"Chirag Patel","item_type":"entity","text":"gene: KIF5C was added\ngene: KIF5C was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF5C were set to Cortical dysplasia, complex, with other brain malformations 2, OMIM #615282\nReview for gene: KIF5C was set to GREEN\nAdded comment: 2 families with 5 affecteds with severe malformations of cortical development. One family with 4 siblings with severe arthrogryposis. Same heterozygous missense variant found in both families (E237V) in KIF5C gene.   \r\n\r\nFamily 1: unaffected mother was determined to be germline mosaic for the mutation. In vitro functional expression studies in E. coli and COS-7 cells showed that the mutant protein had a complete loss of ATP hydrolysis activity. In COS-7 cells, mutant KIF5C heavily colocalized with microtubules throughout the cell, but did not appear as puncta or accumulate in cortical clusters as did the wildtype protein. Poirier et al. (2013) postulated a dominant-negative effect. The findings extended the association between microtubule-based cellular processes and proper cortical development. \nSources: Expert list","entity_name":"KIF5C","entity_type":"gene"},{"created":"2023-03-23T10:57:33.876141+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.379","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CACNA1S as Green List (high evidence)","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-03-23T10:57:33.865874+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.379","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cacna1s has been classified as Green List (High Evidence).","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-03-23T10:57:01.758120+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.378","user_name":"Chirag Patel","item_type":"entity","text":"gene: CNTN1 was added\ngene: CNTN1 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNTN1 were set to PMID:19026398\nPhenotypes for gene: CNTN1 were set to Congenital myopathy 12, OMIM #612540\nReview for gene: CNTN1 was set to RED\nAdded comment: Congenital myopathy-12 (CMYP12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures. One family reported with homozygous mutation in the CNTN1 gene. \nSources: Expert list","entity_name":"CNTN1","entity_type":"gene"},{"created":"2023-03-23T10:54:38.310726+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.377","user_name":"Chirag Patel","item_type":"entity","text":"gene: CACNA1S was added\ngene: CACNA1S was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: CACNA1S was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA1S were set to PMID: 33060286, 31227654, 28012042\nPhenotypes for gene: CACNA1S were set to Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM #620246\nReview for gene: CACNA1S was set to GREEN\nAdded comment: Congenital myopathy-18 (CMYP18) is a disorder of the skeletal muscle characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy. There is clinical heterogeneity in the manifestations and severity, ranging from fetal akinesia sequence causing early death to onset of symptoms in adulthood. \nSources: Expert list","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-03-23T10:51:03.626714+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.376","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: B3GALT6 as Amber List (moderate evidence)","entity_name":"B3GALT6","entity_type":"gene"},{"created":"2023-03-23T10:51:03.615483+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.376","user_name":"Chirag Patel","item_type":"entity","text":"Gene: b3galt6 has been classified as Amber List (Moderate Evidence).","entity_name":"B3GALT6","entity_type":"gene"},{"created":"2023-03-23T10:50:43.541878+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.376","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: VRK1 as Amber List (moderate evidence)","entity_name":"VRK1","entity_type":"gene"},{"created":"2023-03-23T10:50:43.533512+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.376","user_name":"Chirag Patel","item_type":"entity","text":"Gene: vrk1 has been classified as Amber List (Moderate Evidence).","entity_name":"VRK1","entity_type":"gene"},{"created":"2023-03-23T10:50:22.857958+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.375","user_name":"Chirag Patel","item_type":"entity","text":"gene: B3GALT6 was added\ngene: B3GALT6 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GALT6 were set to PMID: 29443383, 25149931\nPhenotypes for gene: B3GALT6 were set to Al-Gazali syndrome, OMIM #609465\nReview for gene: B3GALT6 was set to AMBER\nAdded comment: Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality. \r\n\r\nIn an infant with Al-Gazali syndrome, Sellars et al. (2014) identified compound heterozygous missense mutations in the B3GALT6 gene. The mutation, which was found by exome sequencing, segregated with the disorder in the family. \r\n\r\nIn 1 of the Palestinian infants with Al-Gazali syndrome reported by al-Gazali et al. (1999), Ben-Mahmoud et al. (2018) identified homozygosity for a missense mutation in the B3GALT6 gene. The parents were heterozygous for the mutation. \nSources: Expert list","entity_name":"B3GALT6","entity_type":"gene"},{"created":"2023-03-23T10:47:07.419489+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.374","user_name":"Chirag Patel","item_type":"entity","text":"gene: VRK1 was added\ngene: VRK1 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VRK1 were set to PMID: 21937992, 21937992\nPhenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, OMIM#\t607596\nReview for gene: VRK1 was set to AMBER\nAdded comment: contractures reported and mutation found in 2 families \nSources: Expert list","entity_name":"VRK1","entity_type":"gene"},{"created":"2023-03-23T10:43:17.803375+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.373","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PPP3CA as Green List (high evidence)","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-03-23T10:43:17.792307+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.373","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ppp3ca has been classified as Green List (High Evidence).","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-03-23T10:41:29.332124+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.372","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PMM2 as Green List (high evidence)","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-23T10:41:29.320762+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.372","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pmm2 has been classified as Green List (High Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-23T10:41:10.077039+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.372","user_name":"Chirag Patel","item_type":"entity","text":"gene: PPP3CA was added\ngene: PPP3CA was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP3CA were set to PMID: 29432562\nPhenotypes for gene: PPP3CA were set to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM #618265\nReview for gene: PPP3CA was set to GREEN\nAdded comment: 2 unrelated patients with arthrogryposis, cleft palate, craniosynostosis, micrognathia, short stature, and impaired intellectual development. Whole-exome sequencing (+ Sanger confirmation) found de novo heterozygous mutations in the autoinhibitory domain of PPP3CA gene. Using a yeast model, the mutations were found to be constitutively activating. \nSources: Expert list","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-03-23T10:38:14.850878+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.371","user_name":"Chirag Patel","item_type":"entity","text":"gene: PMM2 was added\ngene: PMM2 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, OMIM #212065\nReview for gene: PMM2 was set to GREEN\nAdded comment: Arthrogryposis reported \nSources: Expert list","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-23T10:35:41.929742+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.370","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: LMNA as Green List (high evidence)","entity_name":"LMNA","entity_type":"gene"},{"created":"2023-03-23T10:35:41.914471+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.370","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lmna has been classified as Green List (High Evidence).","entity_name":"LMNA","entity_type":"gene"},{"created":"2023-03-23T10:35:13.505601+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.369","user_name":"Chirag Patel","item_type":"entity","text":"gene: LMNA was added\ngene: LMNA was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNA were set to PMID:18551513\nPhenotypes for gene: LMNA were set to Muscular dystrophy, congenital, OMIM #613205\nReview for gene: LMNA was set to GREEN\nAdded comment: Arthrogryposis reported \nSources: Expert list","entity_name":"LMNA","entity_type":"gene"},{"created":"2023-03-23T10:32:34.831157+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.368","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FLVCR2 as Green List (high evidence)","entity_name":"FLVCR2","entity_type":"gene"},{"created":"2023-03-23T10:32:34.823886+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.368","user_name":"Chirag Patel","item_type":"entity","text":"Gene: flvcr2 has been classified as Green List (High Evidence).","entity_name":"FLVCR2","entity_type":"gene"},{"created":"2023-03-23T10:32:05.876667+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.367","user_name":"Chirag Patel","item_type":"entity","text":"gene: FLVCR2 was added\ngene: FLVCR2 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLVCR2 were set to PMID: 20206334, 20014121, 20014121\nPhenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, OMIM #225790\nReview for gene: FLVCR2 was set to GREEN\nAdded comment: Severe arthrogryposis disorder \nSources: Expert list","entity_name":"FLVCR2","entity_type":"gene"},{"created":"2023-03-23T10:26:17.831132+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.366","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BIN1 as Green List (high evidence)","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-03-23T10:26:17.810066+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.366","user_name":"Chirag Patel","item_type":"entity","text":"Gene: bin1 has been classified as Green List (High Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-03-23T10:25:58.154063+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.366","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BIN1 as Green List (high evidence)","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-03-23T10:25:58.124616+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.366","user_name":"Chirag Patel","item_type":"entity","text":"Gene: bin1 has been classified as Green List (High Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-03-23T10:25:38.739390+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.366","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BIN1 as Green List (high evidence)","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-03-23T10:25:38.730404+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.366","user_name":"Chirag Patel","item_type":"entity","text":"Gene: bin1 has been classified as Green List (High Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-03-23T10:24:04.352882+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.365","user_name":"Chirag Patel","item_type":"entity","text":"gene: BIN1 was added\ngene: BIN1 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BIN1 were set to Centronuclear myopathy 2; OMIM #255200\nReview for gene: BIN1 was set to GREEN\nAdded comment: Arthrogryposis reported \nSources: Expert list","entity_name":"BIN1","entity_type":"gene"},{"created":"2023-03-23T09:57:11.147086+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.364","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TMEM5 as Red List (low evidence)","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T09:57:11.132839+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.364","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem5 has been classified as Red List (Low Evidence).","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T09:56:51.024032+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.364","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TMEM5 as Red List (low evidence)","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T09:56:50.986749+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.364","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem5 has been classified as Red List (Low Evidence).","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T09:56:31.829071+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.364","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TMEM5 as Red List (low evidence)","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T09:56:31.819831+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.364","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem5 has been classified as Red List (Low Evidence).","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T09:56:03.525384+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.363","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TMEM5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"TMEM5","entity_type":"gene"},{"created":"2023-03-23T09:36:34.503691+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.363","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FAM20C as Amber List (moderate evidence)","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-03-23T09:36:34.492848+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.363","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fam20c has been classified as Amber List (Moderate Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-03-23T09:36:07.821732+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.362","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-03-23T09:33:50.562696+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.362","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DAG1 as Red List (low evidence)","entity_name":"DAG1","entity_type":"gene"},{"created":"2023-03-23T09:33:50.555326+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.362","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dag1 has been classified as Red List (Low Evidence).","entity_name":"DAG1","entity_type":"gene"},{"created":"2023-03-23T09:33:23.066241+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.361","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: DAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"DAG1","entity_type":"gene"},{"created":"2023-03-23T09:27:38.810670+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.361","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: B4GAT1 as Red List (low evidence)","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2023-03-23T09:27:38.803222+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.361","user_name":"Chirag Patel","item_type":"entity","text":"Gene: b4gat1 has been classified as Red List (Low Evidence).","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2023-03-23T09:27:12.222338+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.360","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: B4GAT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2023-03-23T09:25:46.494293+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.360","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: B3GALNT2 as Red List (low evidence)","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2023-03-23T09:25:46.486409+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.360","user_name":"Chirag Patel","item_type":"entity","text":"Gene: b3galnt2 has been classified as Red List (Low Evidence).","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2023-03-23T09:25:18.460307+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.359","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: B3GALNT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2023-03-22T16:58:01.133993+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2048","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAC2 as ready","entity_name":"RAC2","entity_type":"gene"},{"created":"2023-03-22T16:58:01.107273+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2048","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rac2 has been classified as Green List (High Evidence).","entity_name":"RAC2","entity_type":"gene"},{"created":"2023-03-22T16:57:57.884739+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2048","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC2 were changed from Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986 to Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia MIM# 618986","entity_name":"RAC2","entity_type":"gene"},{"created":"2023-03-22T16:57:43.352494+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2047","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAC2 as Green List (high evidence)","entity_name":"RAC2","entity_type":"gene"},{"created":"2023-03-22T16:57:43.336759+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2047","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rac2 has been classified as Green List (High Evidence).","entity_name":"RAC2","entity_type":"gene"},{"created":"2023-03-22T16:57:33.065014+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2046","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAC2 was added\ngene: RAC2 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: RAC2.\nMode of inheritance for gene: RAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAC2 were set to Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986\nReview for gene: RAC2 was set to GREEN\nAdded comment: Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia\r\n13 individuals from 8 unrelated families; mono-allelic; gain of function; multiple mouse models\r\n\r\nMono-allelic missense variants were reported in each individual (5 x De Novo) and resulted in a gain-of -function. (E62K, P34H, N92T, G12R)\r\n\r\nThese individuals typically presented in infancy with frequent infections, profound leukopaenia, lymphopaenia diarrhoea and hypogammaglobulinaemia.\r\n\r\nSCID-like phenotype.\r\n\r\nTreatment: IVIG, BMT\r\n\r\nNote evidence for the other two immunodeficiency disorders associated with this gene is limited. \nSources: Expert list","entity_name":"RAC2","entity_type":"gene"},{"created":"2023-03-22T16:13:24.579405+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2045","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLS3 as ready","entity_name":"PLS3","entity_type":"gene"},{"created":"2023-03-22T16:13:24.565949+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2045","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pls3 has been classified as Green List (High Evidence).","entity_name":"PLS3","entity_type":"gene"},{"created":"2023-03-22T16:13:18.652668+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2045","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLS3 as Green List (high evidence)","entity_name":"PLS3","entity_type":"gene"}]}