{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=545","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=543","results":[{"created":"2023-09-29T12:39:38.947470+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRAK4 as ready","entity_name":"IRAK4","entity_type":"gene"},{"created":"2023-09-29T12:39:38.929196+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irak4 has been classified as Green List (High Evidence).","entity_name":"IRAK4","entity_type":"gene"},{"created":"2023-09-29T12:39:35.926025+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IRAK4 were changed from neuroinflammation, systemic autoinflammation, splenomegaly, and anemia to Autoinflammatory syndrome, MONDO:0019751, IRAK4-related","entity_name":"IRAK4","entity_type":"gene"},{"created":"2023-09-29T12:39:07.683997+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IRAK4 as Green List (high evidence)","entity_name":"IRAK4","entity_type":"gene"},{"created":"2023-09-29T12:39:07.652978+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irak4 has been classified as Green List (High Evidence).","entity_name":"IRAK4","entity_type":"gene"},{"created":"2023-09-29T12:38:35.732918+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, IRAK4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IRAK4","entity_type":"gene"},{"created":"2023-09-29T11:16:15.705429+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPC4 were changed from Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-09-29T11:15:47.283353+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5492","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPC4 were changed from Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-09-29T11:15:04.272602+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.232","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPC4 were changed from Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM#\t620515","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-09-29T11:14:13.060838+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1226","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPC4 were changed from Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM#\t620515","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-09-29T11:09:54.597420+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCG1 were changed from Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation to Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514","entity_name":"PLCG1","entity_type":"gene"},{"created":"2023-09-29T11:09:04.939579+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1225","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCG1 were changed from Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation to Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514","entity_name":"PLCG1","entity_type":"gene"},{"created":"2023-09-29T11:07:59.756141+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1224","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLCG1: Changed phenotypes: Immune dysregulation, autoimmunity, and autoinflammation, MIM#  620514","entity_name":"PLCG1","entity_type":"gene"},{"created":"2023-09-28T14:12:31.900252+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.12","user_name":"Peter McNaughton","item_type":"entity","text":"reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25458002; Phenotypes: Autoinflammation; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"IL36RN","entity_type":"gene"},{"created":"2023-09-28T12:15:07.049419+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5491","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301773; Phenotypes: pontocerebellar hypoplasia type 2A MONDO:0010190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN54","entity_type":"gene"},{"created":"2023-09-28T12:11:38.077277+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5491","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 25037205, 33816677, 31451716, 22499341; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSFM","entity_type":"gene"},{"created":"2023-09-28T11:15:57.449435+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5491","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15292359, 27362444; Phenotypes: Central congenital hypothyroidism Orphanet:226298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSHB","entity_type":"gene"},{"created":"2023-09-27T15:27:25.996780+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.161","user_name":"Manny Jacobs","item_type":"entity","text":"gene: ATP6V1B2 was added\ngene: ATP6V1B2 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: ATP6V1B2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ATP6V1B2 were set to PMID: 24913193; 28396750; 34746137; 32873933; 25915598\nPhenotypes for gene: ATP6V1B2 were set to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Epileptic encephalopathy\nReview for gene: ATP6V1B2 was set to GREEN\nAdded comment: Pathogenic variation in this gene is associated with a group of syndromes with clinical overlap, though deafness is a common feature.\r\n\r\nPMID: 32873933; 28396750 - recurrent truncating variant (NM_001693.4:c.1516C>T; p.Arg506*) with a supporting mouse model (PMID: 34746137). \nSources: Literature","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2023-09-27T15:03:20.984964+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.161","user_name":"Manny Jacobs","item_type":"entity","text":"gene: LMX1B was added\ngene: LMX1B was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMX1B were set to PMID: 27450397, 32457516, 15928687\nPhenotypes for gene: LMX1B were set to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020\nReview for gene: LMX1B was set to GREEN\nAdded comment: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy).\r\n\r\nPMID 15928687 - reports 11 individuals across four families with sensorineural hearing impairment and NPS. \nSources: Literature","entity_name":"LMX1B","entity_type":"gene"},{"created":"2023-09-27T09:46:12.036720+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.12","user_name":"Peter McNaughton","item_type":"entity","text":"gene: IRAK4 was added\ngene: IRAK4 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IRAK4 were set to PMID: 37744344\nPhenotypes for gene: IRAK4 were set to neuroinflammation, systemic autoinflammation, splenomegaly, and anemia\nReview for gene: IRAK4 was set to GREEN\nAdded comment: 5 patients from 2 unrelated kindreds with bi-allelic mutations in IRAK4, resulting in a severe autoinflammatory phenotype without overt immune deficiency, presenting with fever without infection, increased inflammatory markers, massive splenomegaly, transfusion dependent anemia; and severe neuroinflammation in 3/5 cases. \nSources: Literature","entity_name":"IRAK4","entity_type":"gene"},{"created":"2023-09-26T17:53:43.202825+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CPEB1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, CPEB1-related","entity_name":"CPEB1","entity_type":"gene"},{"created":"2023-09-26T17:50:45.664398+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1224","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CPEB1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, CPEB1-related","entity_name":"CPEB1","entity_type":"gene"},{"created":"2023-09-26T17:48:39.110506+10:00","panel_name":"Pancreatitis","panel_id":154,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CPA1 were changed from Susceptibility to chronic pancreatitis; Hereditary pancreatitis to Hereditary pancreatitis, MONDO:0008185, CPA1-related","entity_name":"CPA1","entity_type":"gene"},{"created":"2023-09-26T17:48:04.684956+10:00","panel_name":"Pancreatitis","panel_id":154,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CPA1: Changed phenotypes: Hereditary pancreatitis, MONDO:0008185, CPA1-related","entity_name":"CPA1","entity_type":"gene"},{"created":"2023-09-26T17:47:42.288616+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1223","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CPA1 were changed from Susceptibility to chronic pancreatitis; Hereditary pancreatitis to Hereditary pancreatitis, MONDO:0008185, CPA1-related","entity_name":"CPA1","entity_type":"gene"},{"created":"2023-09-26T17:47:19.674373+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1222","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CPA1: Changed phenotypes: Hereditary pancreatitis, MONDO:0008185, CPA1-related","entity_name":"CPA1","entity_type":"gene"},{"created":"2023-09-26T17:41:07.038444+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL14A1 were changed from Punctate palmoplantar keratoderma type 1B to Punctate palmoplantar keratoderma type 1B, MONDO:0017675, COL14A1-related","entity_name":"COL14A1","entity_type":"gene"},{"created":"2023-09-26T17:37:56.626651+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5491","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNTN6 were changed from Intellectual disability; autism; Tourette syndrome; schizophrenia to Neurodevelopmental disorder, MONDO:0700092, CNTN6-related","entity_name":"CNTN6","entity_type":"gene"},{"created":"2023-09-26T17:37:19.012328+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5490","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CNTN6: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CNTN6-related","entity_name":"CNTN6","entity_type":"gene"},{"created":"2023-09-26T17:36:42.433942+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1222","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNTN6 were changed from Intellectual disability; autism; Tourette syndrome; schizophrenia to Neurodevelopmental disorder, MONDO:0700092, CNTN6-related","entity_name":"CNTN6","entity_type":"gene"},{"created":"2023-09-26T17:36:19.458717+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1221","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CNTN6: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CNTN6-related","entity_name":"CNTN6","entity_type":"gene"},{"created":"2023-09-26T17:35:49.202333+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5490","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNTN3 were changed from  to Neurodevelopmental disorder, MONDO:0700092, CNTN3-related","entity_name":"CNTN3","entity_type":"gene"},{"created":"2023-09-26T17:35:14.404985+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5489","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CNTN3: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CNTN3-related","entity_name":"CNTN3","entity_type":"gene"},{"created":"2023-09-26T17:34:49.640825+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1221","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNTN3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CNTN3-related","entity_name":"CNTN3","entity_type":"gene"},{"created":"2023-09-26T17:32:49.461106+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1220","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNTN2 were changed from Epilepsy to Epilepsy, MONDO:0015653, CNTN2-related","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-09-26T17:32:17.074089+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1922","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNTN2 were set to 23518707","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-09-26T17:31:44.353884+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1921","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNTN2 were changed from Epilepsy to Epilepsy, MONDO:0015653, CNTN2-related","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-09-26T17:28:57.871305+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1219","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNKSR1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related","entity_name":"CNKSR1","entity_type":"gene"},{"created":"2023-09-26T17:28:32.506483+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5489","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNKSR1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related","entity_name":"CNKSR1","entity_type":"gene"},{"created":"2023-09-26T17:26:56.176529+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5488","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CMAS were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CMAS-related","entity_name":"CMAS","entity_type":"gene"},{"created":"2023-09-26T17:26:19.641146+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5487","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CMAS: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CMAS-related","entity_name":"CMAS","entity_type":"gene"},{"created":"2023-09-26T17:25:56.043950+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1218","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CMAS were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CMAS-related","entity_name":"CMAS","entity_type":"gene"},{"created":"2023-09-26T17:15:50.744806+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1217","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHST8 were changed from Peeling skin syndrome to Peeling skin syndrome, MONDO:0019347, CHST8-realted","entity_name":"CHST8","entity_type":"gene"},{"created":"2023-09-26T16:38:01.852570+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.128","user_name":"Peter McNaughton","item_type":"entity","text":"gene: CASP4 was added\ngene: CASP4 was added to Defects of innate immunity. Sources: Literature\nMode of inheritance for gene: CASP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP4 were set to PMID: 37647624\nPhenotypes for gene: CASP4 were set to Susceptibility to meliodiosis\nReview for gene: CASP4 was set to RED\nAdded comment: Single patient with severe disease secondary to B. pseudomallei requiring ECMO.  Adjunctive IFN-γ administration as replacement for its failed induction by IL-18 promptly led to clearance of B. pseudomallei and subsequent weaning of support.\r\nNovel homozygous missense mutation in CASP4, at exon 7 c.1030C > T.  Peripheral blood mononuclear cells (PBMC) of the patient and her parents showed reduced IFN-γ production, notably to IL-12 stimulation, and decreased IL-18 in response to LPS and increased IL-1B.  Cloned cells show impacts on CASP4 activation and pyroptosis. \nSources: Literature","entity_name":"CASP4","entity_type":"gene"},{"created":"2023-09-26T14:32:34.361834+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.113","user_name":"Peter McNaughton","item_type":"entity","text":"gene: PLCG2 was added\ngene: PLCG2 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLCG2 were set to PMID: 37714437\nPhenotypes for gene: PLCG2 were set to Susceptibility to herpes virus\nReview for gene: PLCG2 was set to GREEN\nAdded comment: Patients from two unrelated nonconsanguineous families with PLCG2 haploinsufficiency, characterized by herpesvirus infections and reduced NK cell killing.  A mouse model of haploinsufficiency was validated by comparing wildtype (Plcg2+/+) and Plcg2+/- mice, NK cell maturation was increased in Plcg2+/- mice, NK1.1-induced calcium flux was attenuated in Plcg2+/- NK cells,  NK cell killing of RMA-S target cells was inhibited in Plcg2+/- mice \nSources: Literature","entity_name":"PLCG2","entity_type":"gene"},{"created":"2023-09-25T14:09:58.148835+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5487","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTC37 as ready","entity_name":"TTC37","entity_type":"gene"},{"created":"2023-09-25T14:09:58.132173+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5487","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc37 has been classified as Green List (High Evidence).","entity_name":"TTC37","entity_type":"gene"},{"created":"2023-09-25T13:32:50.258396+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5487","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTC37 were changed from  to trichohepatoenteric syndrome 1 MONDO:0024541","entity_name":"TTC37","entity_type":"gene"},{"created":"2023-09-25T13:32:16.231246+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5486","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTC37 were set to ","entity_name":"TTC37","entity_type":"gene"},{"created":"2023-09-25T13:31:43.360199+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5485","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTC37 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC37","entity_type":"gene"},{"created":"2023-09-25T13:31:15.278408+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5484","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC37","entity_type":"gene"},{"created":"2023-09-25T13:30:54.702781+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5484","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: NCKAP1 were changed from Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related","entity_name":"NCKAP1","entity_type":"gene"},{"created":"2023-09-25T13:30:11.646191+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5483","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: NCKAP1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related","entity_name":"NCKAP1","entity_type":"gene"},{"created":"2023-09-25T13:30:08.163225+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1216","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: NCKAP1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related","entity_name":"NCKAP1","entity_type":"gene"},{"created":"2023-09-25T13:30:05.381812+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.192","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: NCKAP1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related","entity_name":"NCKAP1","entity_type":"gene"},{"created":"2023-09-25T12:24:21.467000+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy; Cleft lip and palate to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2023-09-25T12:23:59.073844+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy; Cleft lip and palate to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2023-09-25T12:23:47.155465+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPP1R13L: Changed phenotypes: Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2023-09-25T12:23:32.759242+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2023-09-25T12:23:19.805405+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPP1R13L: Changed phenotypes: Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2023-09-25T12:22:59.206042+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2023-09-25T12:22:30.491815+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1214","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPP1R13L: Changed phenotypes: Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519","entity_name":"PPP1R13L","entity_type":"gene"},{"created":"2023-09-25T11:28:56.598297+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SP7 as ready","entity_name":"SP7","entity_type":"gene"},{"created":"2023-09-25T11:28:56.584646+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sp7 has been classified as Red List (Low Evidence).","entity_name":"SP7","entity_type":"gene"},{"created":"2023-09-25T11:28:53.919942+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SP7 were changed from  to Osteogenesis imperfecta, type XII, MIM# 613849","entity_name":"SP7","entity_type":"gene"},{"created":"2023-09-25T11:28:23.233497+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SP7","entity_type":"gene"},{"created":"2023-09-25T11:27:55.214082+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SP7 as Red List (low evidence)","entity_name":"SP7","entity_type":"gene"},{"created":"2023-09-25T11:27:55.193952+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sp7 has been classified as Red List (Low Evidence).","entity_name":"SP7","entity_type":"gene"},{"created":"2023-09-25T11:27:09.368899+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERPINF1 as ready","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-09-25T11:27:09.357550+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpinf1 has been classified as Red List (Low Evidence).","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-09-25T11:27:05.421685+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SERPINF1 as Red List (low evidence)","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-09-25T11:27:05.399592+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpinf1 has been classified as Red List (Low Evidence).","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-09-25T11:26:09.255678+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.147","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNPNAT1 as ready","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2023-09-25T11:26:09.242326+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2023-09-25T11:26:03.183114+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.147","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNPNAT1 as Amber List (moderate evidence)","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2023-09-25T11:26:03.154978+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2023-09-25T11:25:51.765542+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNPNAT1 was added\ngene: GNPNAT1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345\nPhenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type, MIM#619598\nReview for gene: GNPNAT1 was set to AMBER\nAdded comment: 3 unrelated families reported with a skeletal dysplasia characterised by severe short stature and rhizomelic shortening. No antenatal features reported. The parents in PMID 36097642 had a medical termination of pregnancy at 4 months gestation for a fetus with skeletal anomalies - not genotyped. \nSources: Expert Review","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2023-09-22T15:21:03.071321+10:00","panel_name":"Liverome Superpanel","panel_id":4191,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2023-09-22T15:20:31.086878+10:00","panel_name":"Liverome Superpanel","panel_id":4191,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added Panel Liverome Superpanel\nSet list of related panels to Abnormality of the liver; HP:0001392\nSet child panels to: Liver Failure_Paediatric; Polycystic liver disease; Cholestasis; Porphyria\nSet panel types to: Melbourne Genomics; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2023-09-22T10:17:44.885194+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1920","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1 MIM#604364; Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092 to Epilepsy, familial focal, with variable foci 1 MIM#604364; Developmental and epileptic encephalopathy 111, MIM#\t620504","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2023-09-22T10:16:33.807834+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1214","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1, MIM#604364 to Epilepsy, familial focal, with variable foci 1, MIM#604364; Developmental and epileptic encephalopathy 111, MIM#\t620504","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2023-09-22T03:58:53.629134+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CELA3B were changed from Chronic pancreatitis to Chronic pancreatitis, MONDO:0008185, CELA3B-related","entity_name":"CELA3B","entity_type":"gene"},{"created":"2023-09-22T03:53:23.593057+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDK5R1 were changed from Intellectual disability; autism to Neurodevelopmental disorder, MONDO:0700092, CDK5R1-related","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2023-09-22T03:52:59.273535+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1211","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CDK5R1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CDK5R1-related","entity_name":"CDK5R1","entity_type":"gene"},{"created":"2023-09-22T03:48:51.036551+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1211","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASTN2 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ASTN2-related","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T03:48:26.635146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1210","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASTN2 were set to 28940097","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T03:34:03.461688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CBY1 were changed from intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome to Joubert syndrome, MONDO:0018772, CBY1-related","entity_name":"CBY1","entity_type":"gene"},{"created":"2023-09-22T03:29:17.281613+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1208","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAPZA2 were changed from intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CAPZA2-related","entity_name":"CAPZA2","entity_type":"gene"},{"created":"2023-09-22T03:24:04.900948+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1207","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNB1 were changed from Malignant hyperthermia susceptibility to Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related","entity_name":"CACNB1","entity_type":"gene"},{"created":"2023-09-22T03:23:37.734325+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1206","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CACNB1: Changed rating: RED; Changed phenotypes: Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related","entity_name":"CACNB1","entity_type":"gene"},{"created":"2023-09-22T03:18:18.109423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1206","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C1orf194 were changed from Charcot-Marie-Tooth disease, intermediate or demyelinating to Charcot-Marie-Tooth disease, intermediate or demyelinating, MONDO:0015626, C1orf194-related","entity_name":"C1orf194","entity_type":"gene"},{"created":"2023-09-22T03:17:37.251020+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1205","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: C1orf194: Changed rating: AMBER; Changed phenotypes: Charcot-Marie-Tooth disease, intermediate or demyelinating, MONDO:0015626, C1orf194; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"C1orf194","entity_type":"gene"},{"created":"2023-09-22T03:08:49.871307+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5482","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BLOC1S1 were changed from severe intellectual disability; severe global developmental delay; epilepsy to Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related","entity_name":"BLOC1S1","entity_type":"gene"},{"created":"2023-09-22T03:08:13.571694+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5481","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BLOC1S1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related","entity_name":"BLOC1S1","entity_type":"gene"},{"created":"2023-09-22T03:07:49.450140+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1205","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BLOC1S1 were changed from severe intellectual disability; severe global developmental delay; epilepsy to Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related","entity_name":"BLOC1S1","entity_type":"gene"},{"created":"2023-09-22T03:07:22.787204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1204","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BLOC1S1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related","entity_name":"BLOC1S1","entity_type":"gene"},{"created":"2023-09-22T03:05:04.226418+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BET1 were changed from Muscular dystrophy; Epilepsy to Muscular dystrophy, MONDO:0019950, BET1-related; Epilepsy","entity_name":"BET1","entity_type":"gene"},{"created":"2023-09-22T02:57:02.944165+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1203","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCL9L were changed from Heterotaxy; Congenital Heart Disease to Heterotaxy syndrome, MONDO:0018677, BCL9L-related","entity_name":"BCL9L","entity_type":"gene"},{"created":"2023-09-22T02:56:33.805203+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1202","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BCL9L: Changed phenotypes: Heterotaxy syndrome, MONDO:0018677, BCL9L","entity_name":"BCL9L","entity_type":"gene"},{"created":"2023-09-22T02:50:08.716329+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1202","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B3GNT2 were changed from Muscular dystrophy-dystroglycanopathy to Muscular dystrophy-dystroglycanopathy, MONDO:0018276, B3GNT2-related","entity_name":"B3GNT2","entity_type":"gene"}]}