{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1702","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1700","results":[{"created":"2020-07-30T14:02:08.938727+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.161","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IVNS1ABP as Green List (high evidence)","entity_name":"IVNS1ABP","entity_type":"gene"},{"created":"2020-07-30T14:02:08.928743+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.161","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ivns1abp has been classified as Green List (High Evidence).","entity_name":"IVNS1ABP","entity_type":"gene"},{"created":"2020-07-30T14:01:00.921956+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.160","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IVNS1ABP was added\ngene: IVNS1ABP was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: IVNS1ABP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IVNS1ABP were set to 32499645\nPhenotypes for gene: IVNS1ABP were set to Primary immunodeficiency\nReview for gene: IVNS1ABP was set to GREEN\nAdded comment: 3 unrelated families with putative loss of function variants. Case features and immunophenotyping of patient cells is suggestive of a combined immune deficiency, based on the ESID definitions of PID subtypes. \nSources: Literature","entity_name":"IVNS1ABP","entity_type":"gene"},{"created":"2020-07-30T13:43:54.910669+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3585","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PTPN2 as ready","entity_name":"PTPN2","entity_type":"gene"},{"created":"2020-07-30T13:43:54.902161+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3585","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ptpn2 has been classified as Amber List (Moderate Evidence).","entity_name":"PTPN2","entity_type":"gene"},{"created":"2020-07-30T13:43:46.374490+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3585","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PTPN2 as Amber List (moderate evidence)","entity_name":"PTPN2","entity_type":"gene"},{"created":"2020-07-30T13:43:46.364606+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3585","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ptpn2 has been classified as Amber List (Moderate Evidence).","entity_name":"PTPN2","entity_type":"gene"},{"created":"2020-07-30T13:11:56.219340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3584","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PTPN2 was added\ngene: PTPN2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN2 were set to 32499645; 27658548\nPhenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency\nReview for gene: PTPN2 was set to AMBER\nAdded comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype. \nSources: Literature","entity_name":"PTPN2","entity_type":"gene"},{"created":"2020-07-30T13:08:36.468810+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PTPN2 as ready","entity_name":"PTPN2","entity_type":"gene"},{"created":"2020-07-30T13:08:36.459412+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ptpn2 has been classified as Amber List (Moderate Evidence).","entity_name":"PTPN2","entity_type":"gene"},{"created":"2020-07-30T13:08:27.067465+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PTPN2 as Amber List (moderate evidence)","entity_name":"PTPN2","entity_type":"gene"},{"created":"2020-07-30T13:08:27.057826+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ptpn2 has been classified as Amber List (Moderate Evidence).","entity_name":"PTPN2","entity_type":"gene"},{"created":"2020-07-30T13:07:52.533072+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PTPN2 was added\ngene: PTPN2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN2 were set to 32499645; 27658548\nPhenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency\nReview for gene: PTPN2 was set to AMBER\nAdded comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype. \nSources: Literature","entity_name":"PTPN2","entity_type":"gene"},{"created":"2020-07-30T12:30:08.287793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3583","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SOCS1 as ready","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-07-30T12:30:08.272892+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3583","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: socs1 has been classified as Green List (High Evidence).","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-07-30T12:29:57.415101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3583","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SOCS1 as Green List (high evidence)","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-07-30T12:29:57.405404+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3583","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: socs1 has been classified as Green List (High Evidence).","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-07-30T12:29:40.915822+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3582","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SOCS1 was added\ngene: SOCS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOCS1 were set to 32499645; 10490099; 10490100\nPhenotypes for gene: SOCS1 were set to Common variable immunodeficiency\nReview for gene: SOCS1 was set to GREEN\nAdded comment: 2 unrelated families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models. \nSources: Literature","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-07-30T10:07:23.652511+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.455","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS28 were changed from Intrauterine growth retardation; developmental delay; dysmorphism to Intrauterine growth retardation; developmental delay; dysmorphism; Combined oxidative phosphorylation deficiency 47, MIM618958","entity_name":"MRPS28","entity_type":"gene"},{"created":"2020-07-30T10:06:34.953238+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPS28: Changed phenotypes: Intrauterine growth retardation, developmental delay, dysmorphism, Combined oxidative phosphorylation deficiency 47, MIM618958","entity_name":"MRPS28","entity_type":"gene"},{"created":"2020-07-30T10:04:55.665262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3581","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficienciesHepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 45, MIM#618951","entity_name":"MRPS23","entity_type":"gene"},{"created":"2020-07-30T10:04:11.177388+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3580","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 45, MIM#618951","entity_name":"MRPS23","entity_type":"gene"},{"created":"2020-07-30T10:02:25.806302+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 46, MIM618952","entity_name":"MRPS23","entity_type":"gene"},{"created":"2020-07-30T10:01:38.653499+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 46, MIM618952","entity_name":"MRPS23","entity_type":"gene"},{"created":"2020-07-30T09:54:43.398651+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3580","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPL12 were changed from Growth retardation; neurological deterioration; mitochondrial translation deficiency to Growth retardation; neurological deterioration; mitochondrial translation deficiency; Combined oxidative phosphorylation deficiency 45, MIM#618951","entity_name":"MRPL12","entity_type":"gene"},{"created":"2020-07-30T09:54:17.762251+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3579","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPL12: Changed phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency, Combined oxidative phosphorylation deficiency 45, MIM#618951","entity_name":"MRPL12","entity_type":"gene"},{"created":"2020-07-30T09:53:55.612131+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPL12 were changed from Growth retardation; neurological deterioration; mitochondrial translation deficiency to Growth retardation; neurological deterioration; mitochondrial translation deficiency; Combined oxidative phosphorylation deficiency 45, MIM#618951","entity_name":"MRPL12","entity_type":"gene"},{"created":"2020-07-30T09:53:15.646004+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPL12: Changed phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency, Combined oxidative phosphorylation deficiency 45, MIM#618951","entity_name":"MRPL12","entity_type":"gene"},{"created":"2020-07-30T09:50:34.514961+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3579","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TASP1 were changed from Developmental delay; microcephaly; dysmorphic features; congenital abnormalities to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities; Suleiman-El-Hattab syndrome, MIM#618950","entity_name":"TASP1","entity_type":"gene"},{"created":"2020-07-30T09:50:03.184737+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3578","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TASP1: Changed phenotypes: Developmental delay, microcephaly, dysmorphic features, congenital abnormalities, Suleiman-El-Hattab syndrome, MIM#618950","entity_name":"TASP1","entity_type":"gene"},{"created":"2020-07-30T09:49:27.253714+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2793","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TASP1 were changed from Developmental delay; microcephaly; dysmorphic features; congenital abnormalities to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities; Suleiman-El-Hattab syndrome, MIM#618950","entity_name":"TASP1","entity_type":"gene"},{"created":"2020-07-30T09:48:39.818636+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2792","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TASP1: Changed phenotypes: Developmental delay, microcephaly, dysmorphic features, congenital abnormalities, Suleiman-El-Hattab syndrome, MIM#618950","entity_name":"TASP1","entity_type":"gene"},{"created":"2020-07-30T09:38:25.877016+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LPIN1 as ready","entity_name":"LPIN1","entity_type":"gene"},{"created":"2020-07-30T09:38:25.860254+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lpin1 has been classified as Amber List (Moderate Evidence).","entity_name":"LPIN1","entity_type":"gene"},{"created":"2020-07-30T09:38:10.203765+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LPIN1 as Amber List (moderate evidence)","entity_name":"LPIN1","entity_type":"gene"},{"created":"2020-07-30T09:38:10.190331+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lpin1 has been classified as Amber List (Moderate Evidence).","entity_name":"LPIN1","entity_type":"gene"},{"created":"2020-07-30T09:02:31.229581+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ENO3 as ready","entity_name":"ENO3","entity_type":"gene"},{"created":"2020-07-30T09:02:31.219165+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eno3 has been classified as Green List (High Evidence).","entity_name":"ENO3","entity_type":"gene"},{"created":"2020-07-30T09:02:28.537150+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ENO3 were changed from  to Glycogen storage disease XIII, MIM#612932","entity_name":"ENO3","entity_type":"gene"},{"created":"2020-07-30T09:02:02.094557+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ENO3 were set to ","entity_name":"ENO3","entity_type":"gene"},{"created":"2020-07-30T09:01:31.558235+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ENO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ENO3","entity_type":"gene"},{"created":"2020-07-30T08:38:42.428602+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.20","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31741825, 11506403, 18070103, 25267339; Phenotypes: Glycogen storage disease XIII MIM#612932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ENO3","entity_type":"gene"},{"created":"2020-07-29T21:55:13.420047+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACADSB as ready","entity_name":"ACADSB","entity_type":"gene"},{"created":"2020-07-29T21:55:13.410440+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acadsb has been classified as Green List (High Evidence).","entity_name":"ACADSB","entity_type":"gene"},{"created":"2020-07-29T21:55:06.563861+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACADSB as Green List (high evidence)","entity_name":"ACADSB","entity_type":"gene"},{"created":"2020-07-29T21:55:06.556163+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acadsb has been classified as Green List (High Evidence).","entity_name":"ACADSB","entity_type":"gene"},{"created":"2020-07-29T21:52:41.920662+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC52A3 as ready","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2020-07-29T21:52:41.911265+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc52a3 has been classified as Green List (High Evidence).","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2020-07-29T21:52:13.607177+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC52A3 as Green List (high evidence)","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2020-07-29T21:52:13.599002+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc52a3 has been classified as Green List (High Evidence).","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2020-07-29T21:51:51.838327+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC52A3 was added\ngene: SLC52A3 was added to Fatty Acid Oxidation Defects. Sources: Expert list\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM#\t211530\nReview for gene: SLC52A3 was set to GREEN\nAdded comment: Definitive by ClinGen. \nSources: Expert list","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2020-07-29T21:50:27.724488+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC52A2 as ready","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-07-29T21:50:27.712485+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc52a2 has been classified as Green List (High Evidence).","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-07-29T21:50:23.378260+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC52A2 as Green List (high evidence)","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-07-29T21:50:23.370596+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc52a2 has been classified as Green List (High Evidence).","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-07-29T21:50:01.188278+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC52A2 was added\ngene: SLC52A2 was added to Fatty Acid Oxidation Defects. Sources: Expert list\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM#\t614707\nReview for gene: SLC52A2 was set to GREEN\nAdded comment: Definitive by ClinGen. \nSources: Expert list","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-07-29T21:47:58.049090+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC22A5 as ready","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2020-07-29T21:47:58.040846+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc22a5 has been classified as Green List (High Evidence).","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2020-07-29T21:47:55.020758+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC22A5 were changed from  to Carnitine deficiency, systemic primary, MIM# 212140","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2020-07-29T21:47:26.517904+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC22A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2020-07-29T21:46:58.330095+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2020-07-29T21:45:31.108471+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPARG as ready","entity_name":"PPARG","entity_type":"gene"},{"created":"2020-07-29T21:45:31.098557+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pparg has been classified as Red List (Low Evidence).","entity_name":"PPARG","entity_type":"gene"},{"created":"2020-07-29T21:45:24.831882+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPARG as Red List (low evidence)","entity_name":"PPARG","entity_type":"gene"},{"created":"2020-07-29T21:45:24.823694+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pparg has been classified as Red List (Low Evidence).","entity_name":"PPARG","entity_type":"gene"},{"created":"2020-07-29T21:45:01.509925+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"PPARG","entity_type":"gene"},{"created":"2020-07-29T21:41:59.498624+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3578","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OXCT1 as ready","entity_name":"OXCT1","entity_type":"gene"},{"created":"2020-07-29T21:41:59.488345+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3578","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oxct1 has been classified as Green List (High Evidence).","entity_name":"OXCT1","entity_type":"gene"},{"created":"2020-07-29T21:41:52.212541+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3578","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OXCT1 were changed from  to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050","entity_name":"OXCT1","entity_type":"gene"},{"created":"2020-07-29T21:41:35.778471+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3577","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OXCT1 were set to ","entity_name":"OXCT1","entity_type":"gene"},{"created":"2020-07-29T21:41:18.218503+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3576","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OXCT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"OXCT1","entity_type":"gene"},{"created":"2020-07-29T21:41:01.557840+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3575","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 10964512, 8751852, 23420214; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OXCT1","entity_type":"gene"},{"created":"2020-07-29T21:39:22.829650+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OXCT1 as ready","entity_name":"OXCT1","entity_type":"gene"},{"created":"2020-07-29T21:39:22.820632+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oxct1 has been classified as Green List (High Evidence).","entity_name":"OXCT1","entity_type":"gene"},{"created":"2020-07-29T21:39:19.655828+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OXCT1 were set to 8751852; 10964512; 28178565","entity_name":"OXCT1","entity_type":"gene"},{"created":"2020-07-29T21:38:43.056231+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11757586, 8844009; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OXCT1","entity_type":"gene"},{"created":"2020-07-29T21:10:39.739349+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NADK2 as Green List (high evidence)","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-07-29T21:10:39.729744+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadk2 has been classified as Green List (High Evidence).","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-07-29T21:10:13.091185+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families reported, rated as 'moderate' by ClinGen. \nSources: Expert list; to: At least three families reported, rated as 'moderate' by ClinGen but only two families considered at time of assessment.\r\nSources: Expert list","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-07-29T21:09:52.956014+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NADK2: Changed rating: GREEN; Changed publications: 24847004, 27940755, 23212377, 28923496, 29388319; Changed phenotypes: 2,4-dienoyl-CoA reductase deficiency, MIM# 616034","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-07-29T21:09:38.825974+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NADK2 as ready","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-07-29T21:09:38.817575+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadk2 has been classified as Amber List (Moderate Evidence).","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-07-29T21:09:35.837288+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-07-29T21:09:01.274189+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NADK2 as Amber List (moderate evidence)","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-07-29T21:09:01.264233+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadk2 has been classified as Amber List (Moderate Evidence).","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-07-29T21:08:34.535583+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NADK2 was added\ngene: NADK2 was added to Fatty Acid Oxidation Defects. Sources: Expert list\nMode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496\nPhenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM#\t616034\nReview for gene: NADK2 was set to AMBER\nAdded comment: Two families reported, rated as 'moderate' by ClinGen. \nSources: Expert list","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-07-29T20:55:47.884155+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3575","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ1 as ready","entity_name":"KCNJ1","entity_type":"gene"},{"created":"2020-07-29T20:55:47.866051+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj1 has been classified as Green List (High Evidence).","entity_name":"KCNJ1","entity_type":"gene"},{"created":"2020-07-29T20:55:40.791629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3575","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ1 were changed from  to Bartter syndrome, type 2, 241200","entity_name":"KCNJ1","entity_type":"gene"},{"created":"2020-07-29T20:55:21.197420+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3574","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNJ1 were set to ","entity_name":"KCNJ1","entity_type":"gene"},{"created":"2020-07-29T20:55:03.637288+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3573","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNJ1","entity_type":"gene"},{"created":"2020-07-29T20:47:46.299609+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3572","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFYVE27 as ready","entity_name":"ZFYVE27","entity_type":"gene"},{"created":"2020-07-29T20:47:46.288712+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3572","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfyve27 has been classified as Red List (Low Evidence).","entity_name":"ZFYVE27","entity_type":"gene"},{"created":"2020-07-29T20:47:39.385123+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3572","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFYVE27 were changed from  to Spastic paraplegia 33, autosomal dominant MIM#610244","entity_name":"ZFYVE27","entity_type":"gene"},{"created":"2020-07-29T20:47:14.607796+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3571","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZFYVE27 were set to ","entity_name":"ZFYVE27","entity_type":"gene"},{"created":"2020-07-29T20:46:57.168075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3570","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZFYVE27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZFYVE27","entity_type":"gene"},{"created":"2020-07-29T20:44:57.125090+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3569","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLF10 as ready","entity_name":"KLF10","entity_type":"gene"},{"created":"2020-07-29T20:44:57.117050+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3569","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klf10 has been classified as Red List (Low Evidence).","entity_name":"KLF10","entity_type":"gene"},{"created":"2020-07-29T20:44:47.954855+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3569","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLF10 as Red List (low evidence)","entity_name":"KLF10","entity_type":"gene"},{"created":"2020-07-29T20:44:47.946642+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3569","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klf10 has been classified as Red List (Low Evidence).","entity_name":"KLF10","entity_type":"gene"}]}