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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1702",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}