{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=387","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=385","results":[{"created":"2024-09-18T21:01:29.282639+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.313","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ADAMTS13 were set to ","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2024-09-18T20:58:39.018219+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.312","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: AIPL1 as ready","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-09-18T20:58:38.996650+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.312","user_name":"Lilian Downie","item_type":"entity","text":"Gene: aipl1 has been classified as Green List (High Evidence).","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-09-18T20:58:23.586940+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.312","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: AIPL1 were changed from Cone-rod dystrophy, 604393 (3) to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-09-18T20:57:18.943382+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.311","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: AIPL1 were set to ","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-09-18T16:52:52.893045+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: None; Publications: 24290075, 26763875; Phenotypes: Bardet-Biedl syndrome MONDO:0015229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT172","entity_type":"gene"},{"created":"2024-09-18T16:36:38.808389+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: ID is a prominent feature of this condition in most cases and those affected will likely have severe intellectual and physical disability. \r\n\r\nGoF is the mechanism of disease.; to: ID is a prominent feature of this condition in most cases and those affected will likely have severe intellectual and physical disability. \r\n\r\nGoF is the mechanism of disease.\r\n\r\nClassified as DEFINITIVE by ClinGen's Leukodystrophy and Leukoencephalopathy GCEP on 23/08/2024 - https://search.clinicalgenome.org/CCID:008354","entity_name":"IFIH1","entity_type":"gene"},{"created":"2024-09-18T16:35:41.022184+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 20301648, 25620204; Phenotypes: IFIH1-related type 1 interferonopathy MONDO:0700262; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IFIH1","entity_type":"gene"},{"created":"2024-09-18T16:35:10.571472+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Mark Cleghorn","item_type":"entity","text":"reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301516; Phenotypes: Cockayne syndrome type B, Cerebrooculofacioskeletal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC6","entity_type":"gene"},{"created":"2024-09-18T16:24:19.332649+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301341; Phenotypes: mucopolysaccharidosis type 1 MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDUA","entity_type":"gene"},{"created":"2024-09-18T16:14:00.261549+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20847235, 35359529; Phenotypes: mitochondrial disease MONDO:0044970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"IDH2","entity_type":"gene"},{"created":"2024-09-18T16:07:21.231373+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208207, 27696117, 30114719, 32445293; Phenotypes: 3-methylglutaconic aciduria type 8 MONDO:0044723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HTRA2","entity_type":"gene"},{"created":"2024-09-18T15:55:21.451957+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18571143, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM #612233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSPD1","entity_type":"gene"},{"created":"2024-09-18T15:22:01.158846+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22132097, 17618155; Phenotypes: HSD10 mitochondrial disease MONDO:0010327; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2024-09-18T14:42:22.420168+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.310","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ALG11 as ready","entity_name":"ALG11","entity_type":"gene"},{"created":"2024-09-18T14:42:22.399542+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.310","user_name":"Lilian Downie","item_type":"entity","text":"Gene: alg11 has been classified as Green List (High Evidence).","entity_name":"ALG11","entity_type":"gene"},{"created":"2024-09-18T14:42:18.206528+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.310","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ALG11 were set to ","entity_name":"ALG11","entity_type":"gene"},{"created":"2024-09-18T14:41:26.599210+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.309","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ALG8 as ready","entity_name":"ALG8","entity_type":"gene"},{"created":"2024-09-18T14:41:26.568426+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.309","user_name":"Lilian Downie","item_type":"entity","text":"Gene: alg8 has been classified as Green List (High Evidence).","entity_name":"ALG8","entity_type":"gene"},{"created":"2024-09-18T14:41:22.806159+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.309","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ALG8 were set to ","entity_name":"ALG8","entity_type":"gene"},{"created":"2024-09-18T14:39:19.006394+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.308","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: AP3B2 as ready","entity_name":"AP3B2","entity_type":"gene"},{"created":"2024-09-18T14:39:18.989573+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.308","user_name":"Lilian Downie","item_type":"entity","text":"Gene: ap3b2 has been classified as Green List (High Evidence).","entity_name":"AP3B2","entity_type":"gene"},{"created":"2024-09-18T14:39:15.184625+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.308","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: AP3B2 were changed from Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive to Developmental and epileptic encephalopathy 48 MIM#617276","entity_name":"AP3B2","entity_type":"gene"},{"created":"2024-09-18T14:38:14.210438+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.307","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: AP3B2 were set to ","entity_name":"AP3B2","entity_type":"gene"},{"created":"2024-09-18T14:35:03.341339+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.306","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ARPC1B as ready","entity_name":"ARPC1B","entity_type":"gene"},{"created":"2024-09-18T14:35:03.317282+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.306","user_name":"Lilian Downie","item_type":"entity","text":"Gene: arpc1b has been classified as Green List (High Evidence).","entity_name":"ARPC1B","entity_type":"gene"},{"created":"2024-09-18T14:34:57.651420+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.306","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: ARPC1B were changed from Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia MIM#617718","entity_name":"ARPC1B","entity_type":"gene"},{"created":"2024-09-18T14:31:58.530681+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: None; Publications: 31537781; Phenotypes: tyrosinemia type III MONDO:0010162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPD","entity_type":"gene"},{"created":"2024-09-18T14:20:23.394563+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: None; Publications: 36771238, 35646072; Phenotypes: 3-hydroxy-3-methylglutaric aciduria MONDO:0009520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HMGCL","entity_type":"gene"},{"created":"2024-09-18T13:34:04.390267+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 18974016, 18429047, 12124727; Phenotypes: holocarboxylase synthetase deficiency MONDO:0009666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HLCS","entity_type":"gene"},{"created":"2024-09-18T13:27:14.062278+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24299452, 30847210, 17160907, 26163321, 26026795, 31523596, 32022391, 24299452, 32677093; Phenotypes: 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603, Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HIBCH","entity_type":"gene"},{"created":"2024-09-18T13:14:04.810653+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 35420740; Phenotypes: Sandhoff disease MONDO:0010006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HEXB","entity_type":"gene"},{"created":"2024-09-18T13:08:51.915516+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301397; Phenotypes: Tay-Sachs disease MONDO:0010100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HEXA","entity_type":"gene"},{"created":"2024-09-18T13:01:47.426779+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.305","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ARPC1B were set to ","entity_name":"ARPC1B","entity_type":"gene"},{"created":"2024-09-18T12:52:05.588415+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.32","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: None; Publications: 34215651; Phenotypes: situs inversus, MONDO:0010029, transposition of the great arteries, MONDO:0000153; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNAH6","entity_type":"gene"},{"created":"2024-09-18T12:50:34.309024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2015","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: None; Publications: 34215651; Phenotypes: situs inversus, MONDO:0010029, transposition of the great arteries, MONDO:0000153; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNAH6","entity_type":"gene"},{"created":"2024-09-18T12:05:49.454073+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HESX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19623216, 30888394; Phenotypes: septooptic dysplasia MONDO:0008428, Pituitary hormone deficiency, combined, 5 MONDO:0013099; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HESX1","entity_type":"gene"},{"created":"2024-09-18T11:40:13.650195+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 21419380, 24202401, 27389245, 31372844, 21419380, 24202401, 27322623; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0013490, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0013491; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"HEPACAM","entity_type":"gene"},{"created":"2024-09-18T11:35:16.294769+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: None; Publications: 18950397; Phenotypes: linear skin defects with multiple congenital anomalies 1 (MONDO:0024552); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"HCCS","entity_type":"gene"},{"created":"2024-09-18T11:15:23.102477+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: None; Publications: 36063482; Phenotypes: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HADHA","entity_type":"gene"},{"created":"2024-09-18T09:43:13.706434+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for STR: SCA_THAP11_CAG were changed from autosomal dominant cerebellar ataxia MONDO:0020380 to Spinocerebellar ataxia 51, MIM#\t620947","entity_name":"SCA_THAP11_CAG","entity_type":"str"},{"created":"2024-09-18T09:43:00.765604+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed STR: SCA_THAP11_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 51, MIM#\t620947; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCA_THAP11_CAG","entity_type":"str"},{"created":"2024-09-18T09:41:53.705539+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.268","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation, MONDO:0009072; Meckel-Gruber-like syndrome to Brain malformation renal syndrome, MIM# 620943","entity_name":"EXOC3L2","entity_type":"gene"},{"created":"2024-09-18T09:41:37.092393+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.267","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain malformation renal syndrome, MIM# 620943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOC3L2","entity_type":"gene"},{"created":"2024-09-18T09:41:09.713505+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2015","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation, MONDO:0009072; renal dysplasia; bone marrow failure to Brain malformation renal syndrome, MIM# 620943","entity_name":"EXOC3L2","entity_type":"gene"},{"created":"2024-09-18T09:40:45.617808+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2014","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EXOC3L2: Changed phenotypes: Brain malformation renal syndrome, MIM# 620943","entity_name":"EXOC3L2","entity_type":"gene"},{"created":"2024-09-18T09:40:13.218464+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Brain malformation renal syndrome, MIM# 620943","entity_name":"EXOC3L2","entity_type":"gene"},{"created":"2024-09-18T09:39:29.817094+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EXOC3L2: Changed phenotypes: Brain malformation renal syndrome, MIM# 620943","entity_name":"EXOC3L2","entity_type":"gene"},{"created":"2024-09-18T09:39:09.862769+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Brain malformation renal syndrome, MIM#\t620943","entity_name":"EXOC3L2","entity_type":"gene"},{"created":"2024-09-18T09:38:26.879198+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EXOC3L2: Changed phenotypes: Brain malformation renal syndrome, MIM# 620943","entity_name":"EXOC3L2","entity_type":"gene"},{"created":"2024-09-18T09:36:53.107608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2014","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THAP11 were changed from Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related to Methylmalonic aciduria, cblC type-like, MIM# 620940; Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related","entity_name":"THAP11","entity_type":"gene"},{"created":"2024-09-18T09:36:01.949621+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2013","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: THAP11: Changed phenotypes: Methylmalonic aciduria, cblC type-like, MIM# 620940, Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related","entity_name":"THAP11","entity_type":"gene"},{"created":"2024-09-18T09:35:43.614608+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.115","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THAP11 were changed from Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related to Methylmalonic aciduria, cblC type-like, MIM# 620940; Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related","entity_name":"THAP11","entity_type":"gene"},{"created":"2024-09-18T09:35:26.638899+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.114","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THAP11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, cblC type-like, MIM# 620940, Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"THAP11","entity_type":"gene"},{"created":"2024-09-18T09:35:03.384352+10:00","panel_name":"Vitamin metabolism disorders","panel_id":4257,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THAP11 were changed from Methylmalonic aciduria and homocystinuria MONDO:0016826 to Methylmalonic aciduria, cblC type-like, MIM# 620940; Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related","entity_name":"THAP11","entity_type":"gene"},{"created":"2024-09-18T09:34:43.819647+10:00","panel_name":"Vitamin metabolism disorders","panel_id":4257,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: THAP11: Changed phenotypes: Methylmalonic aciduria, cblC type-like, MIM#  620940, Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related","entity_name":"THAP11","entity_type":"gene"},{"created":"2024-09-18T08:53:55.104436+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.30","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BRCA1 as Green List (high evidence)","entity_name":"BRCA1","entity_type":"gene"},{"created":"2024-09-18T08:53:55.082798+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.30","user_name":"Chirag Patel","item_type":"entity","text":"Gene: brca1 has been classified as Green List (High Evidence).","entity_name":"BRCA1","entity_type":"gene"},{"created":"2024-09-18T08:53:48.846494+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.29","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BRCA2 as Green List (high evidence)","entity_name":"BRCA2","entity_type":"gene"},{"created":"2024-09-18T08:53:48.833996+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.29","user_name":"Chirag Patel","item_type":"entity","text":"Gene: brca2 has been classified as Green List (High Evidence).","entity_name":"BRCA2","entity_type":"gene"},{"created":"2024-09-18T08:53:41.859817+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.28","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DICER1 as Green List (high evidence)","entity_name":"DICER1","entity_type":"gene"},{"created":"2024-09-18T08:53:41.848789+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.28","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dicer1 has been classified as Green List (High Evidence).","entity_name":"DICER1","entity_type":"gene"},{"created":"2024-09-18T08:53:36.721814+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.27","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: HRAS as Green List (high evidence)","entity_name":"HRAS","entity_type":"gene"},{"created":"2024-09-18T08:53:36.702411+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.27","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hras has been classified as Green List (High Evidence).","entity_name":"HRAS","entity_type":"gene"},{"created":"2024-09-18T08:53:31.795775+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.26","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NF1 as Green List (high evidence)","entity_name":"NF1","entity_type":"gene"},{"created":"2024-09-18T08:53:31.781452+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.26","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nf1 has been classified as Green List (High Evidence).","entity_name":"NF1","entity_type":"gene"},{"created":"2024-09-18T08:53:26.497481+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.25","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RB1 as Green List (high evidence)","entity_name":"RB1","entity_type":"gene"},{"created":"2024-09-18T08:53:26.486102+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.25","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rb1 has been classified as Green List (High Evidence).","entity_name":"RB1","entity_type":"gene"},{"created":"2024-09-18T08:53:21.164706+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SMARCA4 as Green List (high evidence)","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2024-09-18T08:53:21.140079+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"Gene: smarca4 has been classified as Green List (High Evidence).","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2024-09-18T08:53:16.730810+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.23","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SMARCB1 as Green List (high evidence)","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2024-09-18T08:53:16.702622+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.23","user_name":"Chirag Patel","item_type":"entity","text":"Gene: smarcb1 has been classified as Green List (High Evidence).","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2024-09-18T08:53:12.403506+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.22","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TP53 as Green List (high evidence)","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-18T08:53:12.372031+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.22","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tp53 has been classified as Green List (High Evidence).","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-18T08:52:44.332096+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.21","user_name":"Chirag Patel","item_type":"entity","text":"gene: TP53 was added\ngene: TP53 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP53 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623\nReview for gene: TP53 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition.\r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522). \nSources: Expert list, Expert Review","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-18T08:52:29.866590+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.20","user_name":"Chirag Patel","item_type":"entity","text":"gene: SMARCB1 was added\ngene: SMARCB1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCB1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; Rhabdoid tumor predisposition syndrome 1, MIM#609322\nReview for gene: SMARCB1 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2024-09-18T08:52:21.071246+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.19","user_name":"Chirag Patel","item_type":"entity","text":"gene: SMARCA4 was added\ngene: SMARCA4 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCA4 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; Rhabdoid tumor predisposition syndrome 2, MIM#613325\nReview for gene: SMARCA4 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2024-09-18T08:52:07.557294+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.18","user_name":"Chirag Patel","item_type":"entity","text":"gene: RB1 was added\ngene: RB1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RB1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Retinoblastoma, MONDO:0008380; Retinoblastoma, MIM#180200\nReview for gene: RB1 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"RB1","entity_type":"gene"},{"created":"2024-09-18T08:51:59.285816+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.17","user_name":"Chirag Patel","item_type":"entity","text":"gene: NF1 was added\ngene: NF1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200\nReview for gene: NF1 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition.\r\n\r\nSingle gene testing may be more appropriate if clinical features of NF1. \nSources: Expert list, Expert Review","entity_name":"NF1","entity_type":"gene"},{"created":"2024-09-18T08:51:41.647697+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.16","user_name":"Chirag Patel","item_type":"entity","text":"gene: HRAS was added\ngene: HRAS was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HRAS were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Costello syndrome, MONDO:0009026; Costello syndrome, MIM#218040\nMode of pathogenicity for gene: HRAS was set to Other\nReview for gene: HRAS was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. GOF variants. \nSources: Expert list, Expert Review","entity_name":"HRAS","entity_type":"gene"},{"created":"2024-09-18T08:51:01.373065+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.15","user_name":"Chirag Patel","item_type":"entity","text":"gene: DICER1 was added\ngene: DICER1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DICER1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; DICER1-related tumor predisposition, MONDO:0100216; DICER1 syndrome, MIM#601200\nReview for gene: DICER1 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"DICER1","entity_type":"gene"},{"created":"2024-09-18T08:50:53.780290+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"gene: BRCA2 was added\ngene: BRCA2 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRCA2 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; BRCA2-related cancer predisposition, MONDO:0700269; Breast-ovarian cancer, familial, 2, MIM#612555\nReview for gene: BRCA2 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"BRCA2","entity_type":"gene"},{"created":"2024-09-18T08:50:48.049682+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"gene: BRCA1 was added\ngene: BRCA1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRCA1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; BRCA1-related cancer predisposition, MONDO:0700268; Breast-ovarian cancer, familial, 1, MIM#604370\nReview for gene: BRCA1 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"BRCA1","entity_type":"gene"},{"created":"2024-09-18T08:46:14.965641+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MLH1 as Green List (high evidence)","entity_name":"MLH1","entity_type":"gene"},{"created":"2024-09-18T08:46:14.949895+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mlh1 has been classified as Green List (High Evidence).","entity_name":"MLH1","entity_type":"gene"},{"created":"2024-09-18T08:46:10.471754+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MSH2 as Green List (high evidence)","entity_name":"MSH2","entity_type":"gene"},{"created":"2024-09-18T08:46:10.462134+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: msh2 has been classified as Green List (High Evidence).","entity_name":"MSH2","entity_type":"gene"},{"created":"2024-09-18T08:46:06.298988+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MSH6 as Green List (high evidence)","entity_name":"MSH6","entity_type":"gene"},{"created":"2024-09-18T08:46:06.277930+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Gene: msh6 has been classified as Green List (High Evidence).","entity_name":"MSH6","entity_type":"gene"},{"created":"2024-09-18T08:46:02.364617+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NBN as Green List (high evidence)","entity_name":"NBN","entity_type":"gene"},{"created":"2024-09-18T08:46:02.337085+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nbn has been classified as Green List (High Evidence).","entity_name":"NBN","entity_type":"gene"},{"created":"2024-09-18T08:45:57.990594+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PMS2 as Green List (high evidence)","entity_name":"PMS2","entity_type":"gene"},{"created":"2024-09-18T08:45:57.965422+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pms2 has been classified as Green List (High Evidence).","entity_name":"PMS2","entity_type":"gene"},{"created":"2024-09-18T08:45:50.557508+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: WRN as Green List (high evidence)","entity_name":"WRN","entity_type":"gene"},{"created":"2024-09-18T08:45:50.545129+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"Gene: wrn has been classified as Green List (High Evidence).","entity_name":"WRN","entity_type":"gene"},{"created":"2024-09-18T08:45:43.259130+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.6","user_name":"Chirag Patel","item_type":"entity","text":"gene: MLH1 was added\ngene: MLH1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLH1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mismatch repair cancer syndrome 1, MONDO:0010159; Mismatch repair cancer syndrome 1, MIM#276300\nReview for gene: MLH1 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"MLH1","entity_type":"gene"},{"created":"2024-09-18T08:45:33.704747+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"gene: MSH2 was added\ngene: MSH2 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MSH2 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mismatch repair cancer syndrome 2, MONDO:0030840; Mismatch repair cancer syndrome 2, MIM#619096\nReview for gene: MSH2 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"MSH2","entity_type":"gene"},{"created":"2024-09-18T08:45:26.986174+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"gene: MSH6 was added\ngene: MSH6 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MSH6 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mismatch repair cancer syndrome 3, MONDO:0030841; Mismatch repair cancer syndrome 3, MIM#619097\nReview for gene: MSH6 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"MSH6","entity_type":"gene"},{"created":"2024-09-18T08:45:16.330000+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"gene: NBN was added\ngene: NBN was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBN were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Nijmegen breakage syndrome, MONDO:0009623; Nijmegen breakage syndrome, MIM#251260\nReview for gene: NBN was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"NBN","entity_type":"gene"},{"created":"2024-09-18T08:45:03.005135+10:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"0.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: PMS2 was added\ngene: PMS2 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review\nMode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMS2 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mismatch repair cancer syndrome 4, MONDO:0030843; Mismatch repair cancer syndrome 4, MIM#619101\nReview for gene: PMS2 was set to GREEN\nAdded comment: ClinGen definitive. Soft-tissue sarcomas reported in condition.\r\n\r\nNote: there is a high level of homology between PMS2 and pseudogenes \nSources: Expert list, Expert Review","entity_name":"PMS2","entity_type":"gene"}]}