{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1106","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1104","results":[{"created":"2021-12-03T14:26:10.739955+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10021","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAAH2 as ready","entity_name":"FAAH2","entity_type":"gene"},{"created":"2021-12-03T14:26:10.730729+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10021","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faah2 has been classified as Red List (Low Evidence).","entity_name":"FAAH2","entity_type":"gene"},{"created":"2021-12-03T14:25:49.170932+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10021","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAAH2 were set to PMID: 34645488","entity_name":"FAAH2","entity_type":"gene"},{"created":"2021-12-03T14:25:20.780558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10020","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAAH2 as Red List (low evidence)","entity_name":"FAAH2","entity_type":"gene"},{"created":"2021-12-03T14:25:20.771913+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10020","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faah2 has been classified as Red List (Low Evidence).","entity_name":"FAAH2","entity_type":"gene"},{"created":"2021-12-03T14:24:52.269348+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.152","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:23:18.191211+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.673","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OGDH as ready","entity_name":"OGDH","entity_type":"gene"},{"created":"2021-12-03T14:23:18.179925+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.673","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogdh has been classified as Amber List (Moderate Evidence).","entity_name":"OGDH","entity_type":"gene"},{"created":"2021-12-03T14:23:07.209699+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.673","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OGDH as Amber List (moderate evidence)","entity_name":"OGDH","entity_type":"gene"},{"created":"2021-12-03T14:23:07.200158+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.673","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogdh has been classified as Amber List (Moderate Evidence).","entity_name":"OGDH","entity_type":"gene"},{"created":"2021-12-03T14:22:25.100821+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.672","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OGDH was added\ngene: OGDH was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGDH were set to 32383294\nPhenotypes for gene: OGDH were set to Developmental delay; ataxia; seizure; raised lactate\nReview for gene: OGDH was set to AMBER\nAdded comment: Two siblings reported with homozygous missense variant in this gene and global developmental delay, elevated lactate, ataxia and seizure. Fibroblast analysis and modeling of the mutation in Drosophila were used to evaluate pathogenicity of the variant. Note previous report of an individual with developmental delay, hypotonia, and movement disorders and metabolic decompensation and biochemical evidence of OGDH deficiency but genetic testing not done. \nSources: Literature","entity_name":"OGDH","entity_type":"gene"},{"created":"2021-12-03T14:22:13.068948+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10019","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnornmalities, and dysmorphic features.\r\n\r\nIn vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).\r\n\r\nA mouse knockout has comparable phenotypes, and a severe survival deficit.\r\n\r\nRated amber (1 patient, functional evidence, mouse model). \nSources: Literature; to: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.\r\n\r\nIn vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).\r\n\r\nA mouse knockout has comparable phenotypes, and a severe survival deficit.\r\n\r\nRated amber (1 patient, functional evidence, mouse model). \r\nSources: Literature","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T14:21:30.259490+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10019","user_name":"Belinda Chong","item_type":"entity","text":"gene: SLIRP was added\ngene: SLIRP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLIRP were set to 34426662\nPhenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency\nReview for gene: SLIRP was set to RED\nAdded comment: Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency \nSources: Literature","entity_name":"SLIRP","entity_type":"gene"},{"created":"2021-12-03T14:20:19.591164+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10019","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OGDH as ready","entity_name":"OGDH","entity_type":"gene"},{"created":"2021-12-03T14:20:19.580373+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10019","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogdh has been classified as Amber List (Moderate Evidence).","entity_name":"OGDH","entity_type":"gene"},{"created":"2021-12-03T14:19:59.361889+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10019","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OGDH as Amber List (moderate evidence)","entity_name":"OGDH","entity_type":"gene"},{"created":"2021-12-03T14:19:59.352902+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10019","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogdh has been classified as Amber List (Moderate Evidence).","entity_name":"OGDH","entity_type":"gene"},{"created":"2021-12-03T14:19:39.711050+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10018","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OGDH was added\ngene: OGDH was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGDH were set to 32383294\nPhenotypes for gene: OGDH were set to Developmental delay; ataxia; seizure; raised lactate\nReview for gene: OGDH was set to AMBER\nAdded comment: Two siblings reported with homozygous missense variant in this gene and global developmental delay, elevated lactate, ataxia and seizure. Fibroblast analysis and modeling of the mutation in Drosophila were used to evaluate pathogenicity of the variant. Note previous report of an individual with developmental delay, hypotonia, and movement disorders and metabolic decompensation and biochemical evidence of OGDH deficiency but genetic testing not done. \nSources: Literature","entity_name":"OGDH","entity_type":"gene"},{"created":"2021-12-03T14:19:11.441197+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10017","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: FAAH2: Changed publications: 34645488, 25885783","entity_name":"FAAH2","entity_type":"gene"},{"created":"2021-12-03T14:18:14.180762+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10017","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FOXR1 was added\ngene: FOXR1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXR1 were set to 34723967\nPhenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay\nReview for gene: FOXR1 was set to AMBER\ngene: FOXR1 was marked as current diagnostic\nAdded comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnornmalities, and dysmorphic features.\r\n\r\nIn vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).\r\n\r\nA mouse knockout has comparable phenotypes, and a severe survival deficit.\r\n\r\nRated amber (1 patient, functional evidence, mouse model). \nSources: Literature","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T14:16:43.131515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10017","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:16:24.889540+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10017","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: PMID: 34645488;\r\n- 1x nonsense variant inherited from normal mother\r\n- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes\r\n- this variant has 2 hemizygotes in gnomAD\r\n\r\nPMID: 25885783;\r\n- 1x missense inherited from normal mother and absent in normal brother\r\n- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities\r\n- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.\r\n- BUT this variant has 30 hemizygotes in gnomoad \nSources: Literature; to: PMID: 34645488;\r\n- 1x nonsense variant inherited from normal mother\r\n- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes\r\n- this variant has 2 hemizygotes in gnomAD\r\n\r\nPMID: 25885783;\r\n- 1x missense inherited from normal mother and absent in normal brother\r\n- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities\r\n- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.\r\n- BUT this variant has 30 hemizygotes in gnomAD\r\nSources: Literature","entity_name":"FAAH2","entity_type":"gene"},{"created":"2021-12-03T14:15:53.690694+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10017","user_name":"Ain Roesley","item_type":"entity","text":"gene: FAAH2 was added\ngene: FAAH2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FAAH2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FAAH2 were set to PMID: 34645488\nPenetrance for gene: FAAH2 were set to unknown\nReview for gene: FAAH2 was set to RED\ngene: FAAH2 was marked as current diagnostic\nAdded comment: PMID: 34645488;\r\n- 1x nonsense variant inherited from normal mother\r\n- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes\r\n- this variant has 2 hemizygotes in gnomAD\r\n\r\nPMID: 25885783;\r\n- 1x missense inherited from normal mother and absent in normal brother\r\n- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities\r\n- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.\r\n- BUT this variant has 30 hemizygotes in gnomoad \nSources: Literature","entity_name":"FAAH2","entity_type":"gene"},{"created":"2021-12-03T14:12:29.671228+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10017","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NT5E as ready","entity_name":"NT5E","entity_type":"gene"},{"created":"2021-12-03T14:12:29.659935+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10017","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nt5e has been classified as Green List (High Evidence).","entity_name":"NT5E","entity_type":"gene"},{"created":"2021-12-03T14:12:20.006019+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10017","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NT5E were changed from  to Calcification of joints and arteries, MIM# 211800","entity_name":"NT5E","entity_type":"gene"},{"created":"2021-12-03T14:11:54.714389+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10016","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NT5E were set to ","entity_name":"NT5E","entity_type":"gene"},{"created":"2021-12-03T14:11:34.934359+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10015","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NT5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NT5E","entity_type":"gene"},{"created":"2021-12-03T14:11:07.392662+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10014","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NT5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 21288095; Phenotypes: Calcification of joints and arteries, MIM# 211800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NT5E","entity_type":"gene"},{"created":"2021-12-03T10:24:49.801208+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.74","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARPC4 as Green List (high evidence)","entity_name":"ARPC4","entity_type":"gene"},{"created":"2021-12-03T10:24:49.790704+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.74","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arpc4 has been classified as Green List (High Evidence).","entity_name":"ARPC4","entity_type":"gene"},{"created":"2021-12-03T10:14:40.499044+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.73","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARPC4 was added\ngene: ARPC4 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072\nPhenotypes for gene: ARPC4 were set to Microcephaly; mild motor delays; significant speech impairment\nReview for gene: ARPC4 was set to GREEN\nAdded comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). 6/7 affected individuals had microcephaly. The variant was associated with a decreased amount of F-actin in cells from two affected individuals. \nSources: Literature","entity_name":"ARPC4","entity_type":"gene"},{"created":"2021-12-03T09:37:38.590395+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10014","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ARPC4 as ready","entity_name":"ARPC4","entity_type":"gene"},{"created":"2021-12-03T09:37:38.581604+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10014","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arpc4 has been classified as Green List (High Evidence).","entity_name":"ARPC4","entity_type":"gene"},{"created":"2021-12-03T09:35:32.075419+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10014","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARPC4 as Green List (high evidence)","entity_name":"ARPC4","entity_type":"gene"},{"created":"2021-12-03T09:35:32.064189+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10014","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arpc4 has been classified as Green List (High Evidence).","entity_name":"ARPC4","entity_type":"gene"},{"created":"2021-12-03T09:34:21.852135+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10013","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARPC4 was added\ngene: ARPC4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072\nPhenotypes for gene: ARPC4 were set to Microcephaly; mild motor delays; significant speech impairment\nReview for gene: ARPC4 was set to GREEN\nAdded comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). The variant was associated with a decreased amount of F-actin in cells from two affected individuals. \nSources: Literature","entity_name":"ARPC4","entity_type":"gene"},{"created":"2021-12-02T17:24:33.928781+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.903","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFPM2 were changed from 46XY sex reversal 9 - MIM# 616067; Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot\t- MIM# 187500 to Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot\t- MIM# 187500","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2021-12-02T17:24:20.383523+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.902","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZFPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 3 - MIM#610187, Tetralogy of Fallot - MIM# 187500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2021-12-02T17:23:23.849210+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.902","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFPM2 as ready","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2021-12-02T17:23:23.838308+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.902","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfpm2 has been classified as Green List (High Evidence).","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2021-12-02T17:23:12.899659+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.902","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZFPM2 as Green List (high evidence)","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2021-12-02T17:23:12.890006+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.902","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfpm2 has been classified as Green List (High Evidence).","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2021-12-02T17:22:39.451464+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.901","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLIT3 as ready","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-12-02T17:22:39.442327+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.901","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slit3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-12-02T17:22:33.700250+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.901","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLIT3 as Amber List (moderate evidence)","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-12-02T17:22:33.691330+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.901","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slit3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLIT3","entity_type":"gene"},{"created":"2021-12-02T17:22:07.225271+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.900","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM71 as ready","entity_name":"TRIM71","entity_type":"gene"},{"created":"2021-12-02T17:22:07.208898+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.900","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim71 has been classified as Green List (High Evidence).","entity_name":"TRIM71","entity_type":"gene"},{"created":"2021-12-02T17:21:53.688375+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.900","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRIM71 as Green List (high evidence)","entity_name":"TRIM71","entity_type":"gene"},{"created":"2021-12-02T17:21:53.677543+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.900","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim71 has been classified as Green List (High Evidence).","entity_name":"TRIM71","entity_type":"gene"},{"created":"2021-12-02T17:21:04.868187+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10012","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNFRSF11A as ready","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:21:04.858538+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10012","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf11a has been classified as Green List (High Evidence).","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:20:57.822636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10012","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNFRSF11A were changed from  to Osteopetrosis, autosomal recessive 7 - MIM# 612301","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:19:57.496766+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10011","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNFRSF11A were set to ","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:19:37.567177+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10010","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:19:20.100606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10009","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:18:26.153325+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNFRSF11A as ready","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:18:26.126564+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf11a has been classified as Green List (High Evidence).","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:18:21.698462+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TNFRSF11A as Green List (high evidence)","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:18:21.682942+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf11a has been classified as Green List (High Evidence).","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:17:40.795824+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.899","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNFRSF11A as ready","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:17:40.786063+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.899","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf11a has been classified as Green List (High Evidence).","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:17:34.750993+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.899","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TNFRSF11A as Green List (high evidence)","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T17:17:34.740209+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.899","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf11a has been classified as Green List (High Evidence).","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2021-12-02T16:45:03.200066+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF125 as ready","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:45:03.188252+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf125 has been classified as Green List (High Evidence).","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:44:46.760611+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF125 were changed from  to Tenorio syndrome - MIM# 616260","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:44:20.501667+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4321","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNF125 were set to ","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:43:48.942609+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4320","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RNF125 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:43:11.373777+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4319","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: None; Publications: 25196541; Phenotypes: Tenorio syndrome - MIM# 616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:42:37.234837+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10009","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF125 as ready","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:42:37.224212+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10009","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf125 has been classified as Green List (High Evidence).","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:42:27.548159+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10009","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF125 were changed from  to Tenorio syndrome - MIM# 616260","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:42:07.391990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10008","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNF125 were set to ","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:41:49.125904+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10007","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RNF125 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:41:24.779056+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10006","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: None; Publications: 25196541; Phenotypes: Tenorio syndrome - MIM# 616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:40:53.765921+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.898","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF125 as ready","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:40:53.755449+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.898","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf125 has been classified as Green List (High Evidence).","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:40:41.626430+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.898","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF125 were changed from Tenorio syndromem - MIM# 616260 to Tenorio syndrome - MIM# 616260","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:40:22.711426+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.897","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF125 as Green List (high evidence)","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:40:22.700733+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.897","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf125 has been classified as Green List (High Evidence).","entity_name":"RNF125","entity_type":"gene"},{"created":"2021-12-02T16:39:42.531202+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.896","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPDZ as ready","entity_name":"MPDZ","entity_type":"gene"},{"created":"2021-12-02T16:39:42.521692+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.896","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpdz has been classified as Green List (High Evidence).","entity_name":"MPDZ","entity_type":"gene"},{"created":"2021-12-02T16:39:36.815156+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.896","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPDZ as Green List (high evidence)","entity_name":"MPDZ","entity_type":"gene"},{"created":"2021-12-02T16:39:36.805260+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.896","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpdz has been classified as Green List (High Evidence).","entity_name":"MPDZ","entity_type":"gene"},{"created":"2021-12-02T16:39:26.910407+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.895","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: MPDZ.","entity_name":"MPDZ","entity_type":"gene"},{"created":"2021-12-02T16:38:40.435521+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.895","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF4A as ready","entity_name":"KIF4A","entity_type":"gene"},{"created":"2021-12-02T16:38:40.426017+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.895","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif4a has been classified as Green List (High Evidence).","entity_name":"KIF4A","entity_type":"gene"},{"created":"2021-12-02T16:38:34.397599+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.895","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100\t- OMIM# 300923; Hydrocephalus to Intellectual developmental disorder, X-linked 100\t- OMIM# 300923; Hydrocephalus","entity_name":"KIF4A","entity_type":"gene"},{"created":"2021-12-02T16:38:21.900583+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.894","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF4A as Green List (high evidence)","entity_name":"KIF4A","entity_type":"gene"},{"created":"2021-12-02T16:38:21.889556+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.894","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif4a has been classified as Green List (High Evidence).","entity_name":"KIF4A","entity_type":"gene"},{"created":"2021-12-02T16:37:46.170830+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10006","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERMAP as ready","entity_name":"ERMAP","entity_type":"gene"},{"created":"2021-12-02T16:37:46.161893+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ermap has been classified as Red List (Low Evidence).","entity_name":"ERMAP","entity_type":"gene"},{"created":"2021-12-02T16:37:36.896554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10006","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERMAP were changed from  to Blood types","entity_name":"ERMAP","entity_type":"gene"},{"created":"2021-12-02T16:37:17.033782+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10005","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERMAP as Red List (low evidence)","entity_name":"ERMAP","entity_type":"gene"},{"created":"2021-12-02T16:37:17.023801+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10005","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ermap has been classified as Red List (Low Evidence).","entity_name":"ERMAP","entity_type":"gene"},{"created":"2021-12-02T16:36:34.176518+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.893","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISLR2 as ready","entity_name":"ISLR2","entity_type":"gene"},{"created":"2021-12-02T16:36:34.166919+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.893","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: islr2 has been classified as Amber List (Moderate Evidence).","entity_name":"ISLR2","entity_type":"gene"},{"created":"2021-12-02T16:36:27.756622+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.893","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ISLR2 as Amber List (moderate evidence)","entity_name":"ISLR2","entity_type":"gene"}]}