{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1030","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1028","results":[{"created":"2022-01-24T16:24:40.974247+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10759","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"HPGD","entity_type":"gene"},{"created":"2022-01-24T16:23:18.654864+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10759","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKZF2 as ready","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-01-24T16:23:18.645112+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10759","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf2 has been classified as Green List (High Evidence).","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-01-24T16:23:09.291670+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10759","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKZF2 as Green List (high evidence)","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-01-24T16:23:09.280681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10759","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf2 has been classified as Green List (High Evidence).","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-01-24T16:22:51.695748+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10758","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IKZF2 was added\ngene: IKZF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF2 were set to 34920454\nPhenotypes for gene: IKZF2 were set to Immune dysregulation\nReview for gene: IKZF2 was set to GREEN\nAdded comment: Six individuals with systemic lupus erythematosus, immune thrombocytopenia or EBV-associated haemophagocytic lymphohistiocytosis reported with variants in this gene. Patients exhibited hypogammaglobulinaemia, decreased number of T-follicular helper and NK-cells. \nSources: Literature","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-01-24T16:21:23.701160+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKZF2 as ready","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-01-24T16:21:23.690797+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf2 has been classified as Green List (High Evidence).","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-01-24T16:01:36.727746+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKZF2 as Green List (high evidence)","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-01-24T16:01:36.717351+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf2 has been classified as Green List (High Evidence).","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-01-24T16:00:53.843234+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IKZF2 was added\ngene: IKZF2 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF2 were set to 34920454\nPhenotypes for gene: IKZF2 were set to Immune dysregulation\nReview for gene: IKZF2 was set to GREEN\nAdded comment: Six individuals with systemic lupus erythematosus, immune thrombocytopenia or EBV-associated haemophagocytic lymphohistiocytosis reported with variants in this gene. Patients exhibited hypogammaglobulinaemia, decreased number of T-follicular helper and NK-cells. \nSources: Literature","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-01-24T15:57:30.725868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10757","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RHBDF2 as ready","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:57:30.705464+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10757","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhbdf2 has been classified as Green List (High Evidence).","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:57:22.275880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10757","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RHBDF2 were changed from  to Tylosis with esophageal cancer, MIM# 148500; Immune dysregulation","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:56:59.001999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10756","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RHBDF2 were set to ","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:56:37.438470+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10755","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RHBDF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:56:12.875948+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10754","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265016, 22638770, 34937930; Phenotypes: Tylosis with esophageal cancer, MIM# 148500, Immune dysregulation; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:53:19.824336+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RHBDF2 as ready","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:53:19.809662+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhbdf2 has been classified as Green List (High Evidence).","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:52:11.201712+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RHBDF2 as Green List (high evidence)","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:52:11.191224+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhbdf2 has been classified as Green List (High Evidence).","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:51:41.854254+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 3 families reported.; to: At least 3 families reported. Missense variants.\r\n\r\nNote bi-allelic LoF variants are associated with immune dysregulation.","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:51:37.151161+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RHBDF2 was added\ngene: RHBDF2 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: RHBDF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RHBDF2 were set to 34937930\nPhenotypes for gene: RHBDF2 were set to Pneumonia; Colitis; Immunodeficiency\nReview for gene: RHBDF2 was set to GREEN\nAdded comment: 4 individuals from 2 families with LoF variants in this gene and recurrent infections. Functional data including mouse model.\r\n\r\nNote mono allelic (missense) variants in this gene are associated with tylosis. \nSources: Literature","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:48:55.422871+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RHBDF2 as ready","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:48:55.409385+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhbdf2 has been classified as Green List (High Evidence).","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:48:51.556371+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RHBDF2 were changed from  to Tylosis with oesophageal cancer, MIM# 148500","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:48:17.907823+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RHBDF2 were set to ","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:47:55.036589+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RHBDF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:47:30.910781+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265016, 22638770; Phenotypes: Tylosis with esophageal cancer, MIM# 148500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2022-01-24T15:29:59.588936+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD17B4 as ready","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-01-24T15:29:59.578147+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b4 has been classified as Green List (High Evidence).","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-01-24T15:29:57.554923+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400 to D-bifunctional protein deficiency - MIM#261515","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-01-24T15:29:21.022520+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSD17B4 as Green List (high evidence)","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-01-24T15:29:21.011907+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b4 has been classified as Green List (High Evidence).","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-01-24T15:15:31.287121+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10754","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 11845407, 24961656, 32538359; Phenotypes: Glomuvenous malformations MIM#138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T14:51:07.145501+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GLMN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomuvenous malformations MIM#138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T14:42:46.179261+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycerol kinase deficiency MIM#307030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"GK","entity_type":"gene"},{"created":"2022-01-24T14:41:18.166531+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.168","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nPolymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)\r\n\r\nSources: Literature; to: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nPolymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)\r\n\r\nSources: Literature","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-01-24T14:40:15.352578+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.168","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nPolymicrogyria has been reported with DBP deficiency (PMID 32904102) \nSources: Literature; to: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nPolymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)\r\n\r\nSources: Literature","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-01-24T14:35:51.824728+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10754","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T14:28:31.161464+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GDI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T14:28:21.168636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10754","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation-10, MIM#619369; Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2022-01-24T14:28:04.500676+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10753","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANGPT2 were set to 32908006","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2022-01-24T14:27:46.169027+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10752","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANGPT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2022-01-24T14:27:26.224887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10751","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ANGPT2: Added comment: Bi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents.; Changed publications: 32908006, 34876502; Changed phenotypes: Lymphatic malformation-10, MIM#619369, Primary lymphoedema, Hydrops; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2022-01-24T14:23:59.282127+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GAMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2 MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-01-24T14:22:27.313672+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANGPT2 as ready","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2022-01-24T14:22:27.303955+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: angpt2 has been classified as Green List (High Evidence).","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2022-01-24T14:22:22.489308+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANGPT2 as Green List (high evidence)","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2022-01-24T14:22:22.478166+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: angpt2 has been classified as Green List (High Evidence).","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2022-01-24T14:21:46.753176+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2711","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANGPT2 was added\ngene: ANGPT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ANGPT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ANGPT2 were set to 34876502; 32908006\nPhenotypes for gene: ANGPT2 were set to Hydrops; Lymphatic malformation-10, MIM#619369\nReview for gene: ANGPT2 was set to GREEN\nAdded comment: Mono-allelic disease: association with lymphoedema in 5 unrelated individuals PMID 32908006\r\n\r\nBi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents. \nSources: Literature","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2022-01-24T14:19:44.582874+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.168","user_name":"Krithika Murali","item_type":"entity","text":"gene: HSD17B4 was added\ngene: HSD17B4 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSD17B4 were set to 27790638; 32904102\nPhenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400\nReview for gene: HSD17B4 was set to GREEN\nAdded comment: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nPolymicrogyria has been reported with DBP deficiency (PMID 32904102) \nSources: Literature","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2022-01-24T14:14:55.004272+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GAMT were set to 19027335","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-01-24T14:14:30.975919+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GAMT as Green List (high evidence)","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-01-24T14:14:30.964413+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gamt has been classified as Green List (High Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-01-24T14:14:16.415580+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 19027335, 33996490, 12557293, 19288536, 16855203; Phenotypes: Cerebral creatine deficiency syndrome 2 MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-01-24T14:09:29.712821+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10751","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BET1 as ready","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:09:29.701694+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10751","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bet1 has been classified as Amber List (Moderate Evidence).","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:07:55.467004+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10751","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BET1 as Amber List (moderate evidence)","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:07:55.457579+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10751","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bet1 has been classified as Amber List (Moderate Evidence).","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:07:35.392620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10750","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BET1 was added\ngene: BET1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BET1 were set to 34779586\nPhenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy\nReview for gene: BET1 was set to AMBER\nAdded comment: Three individuals from 2 unrelated families reported. \nSources: Literature","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:06:03.735644+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BET1 as ready","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:06:03.722025+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bet1 has been classified as Amber List (Moderate Evidence).","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:05:58.606991+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BET1 as Amber List (moderate evidence)","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:05:58.582109+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bet1 has been classified as Amber List (Moderate Evidence).","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:05:12.967578+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BET1 was added\ngene: BET1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BET1 were set to 34779586\nPhenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy\nReview for gene: BET1 was set to AMBER\nAdded comment: Three individuals from 2 unrelated families reported. \nSources: Literature","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:04:32.233772+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BET1 as ready","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:04:32.222503+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bet1 has been classified as Amber List (Moderate Evidence).","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:03:46.970071+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BET1 as Amber List (moderate evidence)","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:03:46.959656+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bet1 has been classified as Amber List (Moderate Evidence).","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T14:03:19.565204+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BET1 was added\ngene: BET1 was added to Muscular dystrophy_Paediatric. Sources: Literature\nMode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BET1 were set to 34779586\nPhenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy\nReview for gene: BET1 was set to AMBER\nAdded comment: Three individuals from 2 unrelated families reported. \nSources: Literature","entity_name":"BET1","entity_type":"gene"},{"created":"2022-01-24T13:54:07.369570+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive MIM#614487 to Spastic ataxia 5, autosomal recessive MIM#614487; Early-onset dystonia","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2022-01-24T13:53:47.402067+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFG3L2 were set to 22964162; 16541453","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2022-01-24T13:53:31.781686+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2022-01-24T13:53:16.728818+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: 32219868; Phenotypes: Early-onset dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2022-01-24T13:37:04.174543+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2710","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31136762, 31132363, 25271157, 20126265; Phenotypes: Hydrops fetalis and multiple fetal anomalies, polyneuropathy, erythromelalgia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NMNAT2","entity_type":"gene"},{"created":"2022-01-24T13:34:55.731661+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10749","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31136762; Phenotypes: Hydrops fetalis and multiple fetal anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NMNAT2","entity_type":"gene"},{"created":"2022-01-24T13:14:50.050071+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2710","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560, MONDO:0033043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NKX6-2","entity_type":"gene"},{"created":"2022-01-24T13:10:00.877732+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.168","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T13:09:28.663057+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2710","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T13:09:24.538446+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10749","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T12:59:47.645962+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2710","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGF2 as ready","entity_name":"IGF2","entity_type":"gene"},{"created":"2022-01-24T12:59:47.622453+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2710","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf2 has been classified as Green List (High Evidence).","entity_name":"IGF2","entity_type":"gene"},{"created":"2022-01-24T12:59:44.111271+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2710","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGF2 were changed from BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME to Growth restriction, severe, with distinctive facies, MIM#616489","entity_name":"IGF2","entity_type":"gene"},{"created":"2022-01-24T12:59:26.655322+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2709","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGF2 were set to ","entity_name":"IGF2","entity_type":"gene"},{"created":"2022-01-24T12:59:09.595681+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2708","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: SRS phenotype, not associated with significant ID.; to: SRS phenotype.","entity_name":"IGF2","entity_type":"gene"},{"created":"2022-01-24T12:58:58.265952+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2708","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IGF2: Changed rating: GREEN","entity_name":"IGF2","entity_type":"gene"},{"created":"2022-01-24T12:57:39.187971+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2708","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGF1R as ready","entity_name":"IGF1R","entity_type":"gene"},{"created":"2022-01-24T12:57:39.177919+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2708","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf1r has been classified as Green List (High Evidence).","entity_name":"IGF1R","entity_type":"gene"},{"created":"2022-01-24T12:57:34.253403+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2708","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGF1R were changed from INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO to Insulin-like growth factor I, resistance to, MIM# 270450","entity_name":"IGF1R","entity_type":"gene"},{"created":"2022-01-24T12:57:21.902749+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2707","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGF1R were set to ","entity_name":"IGF1R","entity_type":"gene"},{"created":"2022-01-24T12:56:40.069149+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2706","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGF1 as ready","entity_name":"IGF1","entity_type":"gene"},{"created":"2022-01-24T12:56:40.058308+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2706","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf1 has been classified as Green List (High Evidence).","entity_name":"IGF1","entity_type":"gene"},{"created":"2022-01-24T12:56:35.925557+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2706","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGF1 were changed from INSULIN-LIKE GROWTH FACTOR I DEFICIENCY to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747","entity_name":"IGF1","entity_type":"gene"},{"created":"2022-01-24T12:56:20.856008+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2705","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGF1 were set to ","entity_name":"IGF1","entity_type":"gene"},{"created":"2022-01-24T12:56:09.662231+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2704","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IGF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IGF1","entity_type":"gene"},{"created":"2022-01-24T12:55:37.162663+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2703","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT80 as ready","entity_name":"IFT80","entity_type":"gene"},{"created":"2022-01-24T12:55:37.152114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2703","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift80 has been classified as Green List (High Evidence).","entity_name":"IFT80","entity_type":"gene"},{"created":"2022-01-24T12:55:30.977340+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2703","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT80 were changed from ASPHYXIATING THORACIC DYSTROPHY 2 to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644","entity_name":"IFT80","entity_type":"gene"},{"created":"2022-01-24T12:55:20.195940+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2702","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT80 were set to ","entity_name":"IFT80","entity_type":"gene"}]}