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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1705",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1703",
"results": [
{
"created": "2020-07-29T13:34:22.165285+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Green List (High Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:32:49.273659+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADS as ready",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:32:49.265315+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acads has been classified as Green List (High Evidence).",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:32:46.828522+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:32:20.428983+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:31:57.239781+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:30:40.366008+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADM as ready",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:30:40.357162+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:30:37.486293+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:28:14.700314+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:27:51.070107+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:15:08.932702+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Associated with mitochondrial DNA depletion syndrome for which cardiomyopathy is a feature. Not associated with isolated HCM.; to: Associated with mitochondrial DNA depletion syndrome for which HCM is a feature. Not associated with isolated HCM.",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:14:38.876615+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: 16155110; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:00:53.291849+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: PMID: 12767666\r\n2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)\r\n\r\nPMID: 30025578\r\n1 family with HCM, variant was homoplasmic (m.4300A>G)\r\n\r\nPMID: 29481798\r\nHomoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion\r\n\r\nPMID: 23332932\r\nDescribe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM.\r\n\r\nSeems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated.\r\nSources: Literature; to: PMID: 12767666\r\n2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)\r\n\r\nPMID: 30025578\r\n1 family with HCM, variant was homoplasmic (m.4300A>G)\r\n\r\nPMID: 29481798\r\nHomoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion, other mtDNA abnormalities were also identified in this family.\r\n\r\nPMID: 23332932\r\nDescribe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM.\r\n\r\nSeems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated.\r\nSources: Literature",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:58:59.762044+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: MT-TI: Changed publications: 12767666, 30025578, 29481798, 23332932",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:58:39.502756+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: PMID: 12767666\r\n2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)\r\n\r\nPMID: 30025578\r\n1 family with HCM, variant was homoplasmic (m.4300A>G)\r\n\r\nPMID: 29481798\r\nHomoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion\r\n\r\nSeems to be an association with HCM but also DCM and other mito-related phenotypes? \nSources: Literature; to: PMID: 12767666\r\n2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)\r\n\r\nPMID: 30025578\r\n1 family with HCM, variant was homoplasmic (m.4300A>G)\r\n\r\nPMID: 29481798\r\nHomoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion\r\n\r\nPMID: 23332932\r\nDescribe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM.\r\n\r\nSeems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated.\r\nSources: Literature",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:45:34.950023+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: MT-TI was added\ngene: MT-TI was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL\nPublications for gene: MT-TI were set to 12767666; 30025578; 29481798\nPhenotypes for gene: MT-TI were set to Hypertrophic cardiomyopathy\nReview for gene: MT-TI was set to AMBER\ngene: MT-TI was marked as current diagnostic\nAdded comment: PMID: 12767666\r\n2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)\r\n\r\nPMID: 30025578\r\n1 family with HCM, variant was homoplasmic (m.4300A>G)\r\n\r\nPMID: 29481798\r\nHomoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion\r\n\r\nSeems to be an association with HCM but also DCM and other mito-related phenotypes? \nSources: Literature",
"entity_name": "MT-TI",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:32:26.718070+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27625337, 31628103; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:28:05.311469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28630040; Phenotypes: Bartter syndrome, type 2, 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:25:51.973663+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 32335906;\r\nDeletion of exon 15-16 in 3 families\r\n\r\nPMID: 31742804\r\n- 7 affecteds in a 3-generation family, het for p.(Ser527del)\r\n- 1 genotype positive, phenotype negative family member\r\n- 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects\r\n\r\nPMID: 30442288;\r\n- 60 HCM patients with no other variants in other sarcomeric genes\r\n- segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree) \nSources: Literature; to: PMID: 32335906;\r\nDeletion of exon 15-16 in 3 families\r\n\r\nPMID: 31742804\r\n- 7 affecteds in a 3-generation family, het for p.(Ser527del)\r\n- 1 genotype positive, phenotype negative family member\r\n- 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects\r\n\r\nPMID: 30442288;\r\n- 60 HCM probands with no other variants in other sarcomeric genes\r\n- segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree) \r\nSources: Literature",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:25:29.727192+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FHOD3 was added\ngene: FHOD3 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FHOD3 were set to 32335906; 31742804; 30442288\nPhenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy\nPenetrance for gene: FHOD3 were set to unknown\nReview for gene: FHOD3 was set to GREEN\nAdded comment: PMID: 32335906;\r\nDeletion of exon 15-16 in 3 families\r\n\r\nPMID: 31742804\r\n- 7 affecteds in a 3-generation family, het for p.(Ser527del)\r\n- 1 genotype positive, phenotype negative family member\r\n- 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects\r\n\r\nPMID: 30442288;\r\n- 60 HCM patients with no other variants in other sarcomeric genes\r\n- segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree) \nSources: Literature",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:15:11.236126+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RPL21 as ready",
"entity_name": "RPL21",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:15:11.226370+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rpl21 has been classified as Red List (Low Evidence).",
"entity_name": "RPL21",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:15:08.504355+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RPL21 as Red List (low evidence)",
"entity_name": "RPL21",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:15:08.499839+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: No supporting publications since the original in 2011.",
"entity_name": "RPL21",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:15:08.480469+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rpl21 has been classified as Red List (Low Evidence).",
"entity_name": "RPL21",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:13:46.221100+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPL21 was added\ngene: RPL21 was added to Hair disorders. Sources: NHS GMS\nMode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL21 were set to 21412954\nPhenotypes for gene: RPL21 were set to Hypotrichosis 12 MIM#615885\nReview for gene: RPL21 was set to AMBER\nAdded comment: 2 unrelated Chinese families with the same missense (R32Q). Haplotype analysis revealed no founder effect in the 2 families. No functional assays were performed. \nSources: NHS GMS",
"entity_name": "RPL21",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:09:43.067651+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 1 MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:09:38.394303+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DSC3 as ready",
"entity_name": "DSC3",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:09:38.385994+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dsc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSC3",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:09:35.349025+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DSC3 as Amber List (moderate evidence)",
"entity_name": "DSC3",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:09:35.339069+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dsc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSC3",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:09:28.400682+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DSC3 was added\ngene: DSC3 was added to Hair disorders. Sources: NHS GMS\nMode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DSC3 were set to 19765682; 31790667; 18682494\nPhenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles MIM#613102\nReview for gene: DSC3 was set to AMBER\nAdded comment: 2 unrelated cases reported with homozygous nonsense mutations. A conditional null allele in a mouse model shows that loss of Dsc3 function in the epidermis causes impaired cell-cell adhesion, leading to intra-epidermal blistering and telogen hair loss. \nSources: NHS GMS",
"entity_name": "DSC3",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:05:39.373952+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: None; Publications: 24777450; Phenotypes: Cardiomyopathy, dilated, 1NN MIM#615916, Noonan syndrome 5 MIM#611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:00:08.775216+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SNRPE as ready",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:00:08.764277+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: snrpe has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:00:04.298350+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SNRPE as Amber List (moderate evidence)",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2020-07-29T12:00:04.288012+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: snrpe has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:59:55.698464+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SNRPE was added\ngene: SNRPE was added to Hair disorders. Sources: NHS GMS\nMode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNRPE were set to 23246290\nPhenotypes for gene: SNRPE were set to Hypotrichosis 11 MIM#615059\nReview for gene: SNRPE was set to AMBER\nAdded comment: 3 unrelated families with 2 different variants (segregation of Met1? variant in 2 families), and supporting in vitro functional assays. \nSources: NHS GMS",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:52:29.786364+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TGM3 as ready",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:52:29.775809+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgm3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:52:27.112511+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TGM3 as Amber List (moderate evidence)",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:52:27.102245+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgm3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:51:02.586745+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27866708, 26194162; Phenotypes: Uncombable hair syndrome 2 MIM#617251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:46:24.328963+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TCHH as ready",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:46:24.319447+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tchh has been classified as Red List (Low Evidence).",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:46:18.495378+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TCHH: Rating: RED; Mode of pathogenicity: None; Publications: 27866708; Phenotypes: Uncombable hair syndrome 3 MIM#617252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:39:40.770352+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: OBSCN was added\ngene: OBSCN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: OBSCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914\nPhenotypes for gene: OBSCN were set to Hypertrophic cardiomyopathy\nReview for gene: OBSCN was set to RED\ngene: OBSCN was marked as current diagnostic\nAdded comment: Limited evidence by ClinGen working group.\r\n\r\nVia ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review).\r\n\r\nNo additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically. \nSources: Literature",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:39:32.951843+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "KRT74",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:38:16.451894+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BCS1L as ready",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:38:16.441924+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bcs1l has been classified as Green List (High Evidence).",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:37:55.647090+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LSS as ready",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:37:55.637908+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lss has been classified as Green List (High Evidence).",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:37:49.563865+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LSS as Green List (high evidence)",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:37:49.553826+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lss has been classified as Green List (High Evidence).",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:36:56.924974+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LSS was added\ngene: LSS was added to Hair disorders. Sources: Literature\nMode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:36:11.890654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT71 as ready",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:36:11.880279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt71 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:36:01.531349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT71 as Amber List (moderate evidence)",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:36:01.518732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt71 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:35:44.862967+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3560",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT71 was added\ngene: KRT71 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT71 were set to 14632181; 22592156; 19713490\nPhenotypes for gene: KRT71 were set to ?Hypotrichosis 13, 615896\nReview for gene: KRT71 was set to AMBER\nAdded comment: A single family with 3 affected members of a 3-generation Japanese family segregating a missense variant (F141C) with autosomal dominant woolly hair/hypotrichosis, with supporting functional assays and animal models. \nSources: Literature",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:33:17.095169+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT71 as ready",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:33:17.081604+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt71 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:33:07.429601+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: KRT71 were set to 31332722",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:32:54.463256+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT71 as Amber List (moderate evidence)",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:32:54.451534+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt71 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:32:40.944704+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: KRT71: Rating: AMBER; Mode of pathogenicity: None; Publications: 14632181, 22592156, 19713490; Phenotypes: Hypotrichosis 13 MIM#615896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT71",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:18:09.872660+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GTF2H5 as ready",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:18:09.852515+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gtf2h5 has been classified as Green List (High Evidence).",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:18:07.578602+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GTF2H5 were set to 31332722",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:17:53.440234+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28833524, 15220921, 8213812, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive MIM#616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:10:42.835717+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PDLIM3 was added\ngene: PDLIM3 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PDLIM3 were set to 30681346; 26455666; 20801532\nPhenotypes for gene: PDLIM3 were set to Hypertrophic cardiomyopathy\nPenetrance for gene: PDLIM3 were set to unknown\nReview for gene: PDLIM3 was set to RED\nAdded comment: PMID: 30681346;\r\nLIMITED by ClinGen working group\r\n\r\nPMID: 26455666;\r\n1x proband with multi-exon deletion\r\n\r\nPMID: 20801532;\r\n1x proband het for a missense \nSources: Literature",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T11:10:10.914346+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: RYR2 was added\ngene: RYR2 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RYR2 were set to 30681346; 26573135; 22515980; 26656175; 30835254\nPhenotypes for gene: RYR2 were set to Hypertrophic cardiomyopathy\nReview for gene: RYR2 was set to AMBER\ngene: RYR2 was marked as current diagnostic\nAdded comment: Limited evidence by ClinGen working group.\r\n\r\nVia Clingen: 8 probands with HCM across 4 publications. A mouse model lends support to pathogenicity.\r\n\r\nNo additional reports in association with HCM found. \nSources: Literature",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:54.510299+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RNF113A as ready",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:54.498862+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:46.264868+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TARS as ready",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:46.254145+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tars has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:38.930113+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TARS were set to 31332722",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:31.426939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ACADL.",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:25.786438+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TARS as Amber List (moderate evidence)",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:25.777927+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tars has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:15.813002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADL as ready",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:15.802310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadl has been classified as Red List (Low Evidence).",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:59:10.333561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADL were changed from to Pulmonary surfactant dysfunction",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:58:53.836111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACADL were set to ",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:58:36.827769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:58:21.928111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACADL as Red List (low evidence)",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:58:21.919965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadl has been classified as Red List (Low Evidence).",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:58:06.437804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADL: Rating: RED; Mode of pathogenicity: None; Publications: 24591516, 31399326; Phenotypes: Pulmonary surfactant dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:57:57.947561+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ACADL.",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:57:25.151555+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADL as ready",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:57:25.142395+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadl has been classified as Red List (Low Evidence).",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:57:10.929507+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADL were changed from to Pulmonary surfactant dysfunction",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:56:53.128166+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MYPN was added\ngene: MYPN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MYPN were set to 30681346; 20801532; 22286171\nPhenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic, 22 (MIM#\t615248)\nPenetrance for gene: MYPN were set to unknown\nReview for gene: MYPN was set to RED\nAdded comment: PMID: 30681346;\r\nLIMITED by ClinGen working group.\r\n\r\nExtract from ClinGen's curation:\r\nVariants in this gene have been reported in at least 8 probands in 2 publications (PMIDs: 20801532, 22286171). This gene disease association is supported by expression studies, functional assays, and animal models. In summary, there is limited evidence to support this gene-disease relationship \nSources: Literature",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:56:48.368459+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACADL were set to ",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:56:26.173237+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:56:01.967861+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACADL as Red List (low evidence)",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:56:01.957841+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadl has been classified as Red List (Low Evidence).",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:55:34.534934+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADL: Rating: RED; Mode of pathogenicity: None; Publications: 24591516, 31399326; Phenotypes: Pulmonary surfactant dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2020-07-29T10:52:39.014653+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 30681346; \r\nLIMITED by Clingen working group (last evaluated 2018)\r\n\r\nPMID: 32451364\r\n- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.\r\n- 1 index had another pathogenic truncating variant in MYBPC3\r\n- 5 missense and 3 PTCs\r\n- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy \nSources: Literature; to: PMID: 30681346; \r\nLIMITED by Clingen working group (last evaluated 2018)\r\n\r\nPMID: 32451364\r\n- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.\r\n- segregated in 3 families\r\n- 1 index had another pathogenic truncating variant in MYBPC3\r\n- 5 missense and 3 PTCs\r\n- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy \r\nSources: Literature",
"entity_name": "TRIM63",
"entity_type": "gene"
}
]
}