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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1897",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1895",
"results": [
{
"created": "2020-03-21T18:40:49.020602+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HADH as ready",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:40:49.011592+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hadh has been classified as Green List (High Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:40:45.418692+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HADH as Green List (high evidence)",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:40:45.405385+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hadh has been classified as Green List (High Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:40:05.132534+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HADH as Amber List (moderate evidence)",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:40:05.123354+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hadh has been classified as Amber List (Moderate Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:38:45.343277+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HADH was added\ngene: HADH was added to Mitochondrial disease. Sources: Literature,NHS GMS\nMode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HADH were set to 25778941; 23430856; 27771675; 11489939\nPhenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530\nReview for gene: HADH was set to GREEN\nAdded comment: Short-chain-L-3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. \nSources: Literature, NHS GMS",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:24:43.618229+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:24:06.386699+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CPT2: Changed phenotypes: CPT II deficiency, infantile MIM#600649, CPT II deficiency, lethal neonatal MIM#608836, CPT II deficiency, myopathic, stress-induced MIM#255110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:20:54.510656+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CPT2 as ready",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:20:54.501639+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:20:49.448672+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CPT2 as Green List (high evidence)",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:20:49.434437+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:20:02.633181+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPT2 were set to 25778941; 12673791; 30957255\nPhenotypes for gene: CPT2 were set to CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal\tMIM#608836; CPT II deficiency, myopathic, stress-induced\tMIM#255110\nReview for gene: CPT2 was set to GREEN\nAdded comment: Carnitine palmitoyltransferase II (CPT2) is a rare autosomal recessive inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:11:53.306602+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CPT1A as ready",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:11:53.293318+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cpt1a has been classified as Green List (High Evidence).",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:11:48.509112+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CPT1A as Green List (high evidence)",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:11:48.500149+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cpt1a has been classified as Green List (High Evidence).",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:11:06.027251+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.265",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CPT1A was added\ngene: CPT1A was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPT1A were set to 25778941; 12189492; 23430932\nPhenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA MIM#255120\nReview for gene: CPT1A was set to GREEN\nAdded comment: Hepatic carnitine palmitoyltransferase (CPT) deficiency type 1A is a disorder of mitochondrial fatty acid oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:03:41.170517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRM2 as ready",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:03:41.157296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:03:32.153815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRM2 as Amber List (moderate evidence)",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:03:32.140211+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:03:14.560230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRM2 was added\ngene: MRM2 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRM2 were set to 28973171\nPhenotypes for gene: MRM2 were set to MELAS-like\nReview for gene: MRM2 was set to AMBER\nAdded comment: Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA. \nSources: NHS GMS",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:01:18.580602+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPL3",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:00:48.145323+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACADVL as ready",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:00:48.136343+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acadvl has been classified as Green List (High Evidence).",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:00:34.259372+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACADVL as Green List (high evidence)",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:00:34.245631+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acadvl has been classified as Green List (High Evidence).",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:00:04.254547+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.263",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACADVL was added\ngene: ACADVL was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACADVL were set to 25778941; 8845838; 29459657\nPhenotypes for gene: ACADVL were set to VLCAD deficiency MIM#201475\nReview for gene: ACADVL was set to GREEN\nAdded comment: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a mitochondrial fatty acid oxidation disorder. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:59:22.491266+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPL3 as Green List (high evidence)",
"entity_name": "MRPL3",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:59:22.478171+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl3 has been classified as Green List (High Evidence).",
"entity_name": "MRPL3",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:58:41.778453+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPL3 as Green List (high evidence)",
"entity_name": "MRPL3",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:58:41.769496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl3 has been classified as Green List (High Evidence).",
"entity_name": "MRPL3",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:56:34.695989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.; to: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, some functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.",
"entity_name": "MRPL3",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:56:19.953565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRPL3: Changed rating: GREEN",
"entity_name": "MRPL3",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:55:27.763635+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRPL3: Changed rating: GREEN",
"entity_name": "MRPL3",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:55:21.764829+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.; to: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, some functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.",
"entity_name": "MRPL3",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:51:45.953302+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRM2 as ready",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:51:45.939793+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:51:38.126340+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRM2 as Amber List (moderate evidence)",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:51:38.117654+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:51:05.038730+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRM2 was added\ngene: MRM2 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRM2 were set to 28973171\nPhenotypes for gene: MRM2 were set to MELAS-like\nReview for gene: MRM2 was set to AMBER\nAdded comment: Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA. \nSources: NHS GMS",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:34:53.776484+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.259",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACADSB as Green List (high evidence)",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:34:53.767363+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.259",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acadsb has been classified as Green List (High Evidence).",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:32:33.655359+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACADSB was added\ngene: ACADSB was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACADSB were set to 25778941; 17945527\nPhenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006\nReview for gene: ACADSB was set to GREEN\nAdded comment: 2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation, a mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Cases are usually asymptomatic, but can have neurological symptoms. \nSources: NHS GMS, Literature",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:19:14.171519+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.257",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACADS as ready",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:19:14.161436+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.257",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acads has been classified as Green List (High Evidence).",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:19:08.910458+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.257",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACADS as Green List (high evidence)",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:19:08.901542+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.257",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acads has been classified as Green List (High Evidence).",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:18:23.575094+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.256",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACADS was added\ngene: ACADS was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACADS were set to 25778941; 2808706; 29678161\nPhenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470\nReview for gene: ACADS was set to GREEN\nAdded comment: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >10 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:11:38.996253+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACADM as ready",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:11:38.982376+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:11:20.831149+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACADM as Green List (high evidence)",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:11:20.821559+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:09:28.927285+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.254",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACADM were set to 25778941; 1972503; 26223887\nPhenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450\nReview for gene: ACADM was set to GREEN\nAdded comment: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:02:01.938277+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.253",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OXCT1 as ready",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:02:01.928067+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.253",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oxct1 has been classified as Green List (High Evidence).",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:01:13.272315+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.253",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OXCT1 as Green List (high evidence)",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:01:13.263172+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.253",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oxct1 has been classified as Green List (High Evidence).",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2020-03-21T17:00:17.889962+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.252",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OXCT1 was added\ngene: OXCT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXCT1 were set to 25778941; 10964512; 8751852; 23420214\nPhenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050\nReview for gene: OXCT1 was set to GREEN\nAdded comment: A mitochondrial matrix enzyme. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:47:46.051615+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HMGCS2 as ready",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:47:46.040699+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmgcs2 has been classified as Green List (High Evidence).",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:47:38.575879+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HMGCS2 as Green List (high evidence)",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:47:38.567303+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmgcs2 has been classified as Green List (High Evidence).",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:47:07.545839+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.250",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMGCS2 was added\ngene: HMGCS2 was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMGCS2 were set to 25778941; 9337379; 23751782\nPhenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency MIM#605911\nReview for gene: HMGCS2 was set to GREEN\nAdded comment: Mitochondrial HMG-CoA synthase deficiency is a rare inherited metabolic disorder that affects ketone-body synthesis. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:38:28.464954+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.249",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HMGCL as ready",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:38:28.451848+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.249",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmgcl has been classified as Green List (High Evidence).",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:38:21.775497+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.249",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HMGCL as Green List (high evidence)",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:38:21.766073+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.249",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmgcl has been classified as Green List (High Evidence).",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:37:50.771371+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.248",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMGCL was added\ngene: HMGCL was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMGCL were set to 25778941; 11129331; 19036343\nPhenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency MIM#246450\nReview for gene: HMGCL was set to GREEN\nAdded comment: 3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:28:45.919264+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.247",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACAT1 as Green List (high evidence)",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:28:45.909656+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.247",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Green List (High Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-03-21T16:27:28.025562+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.246",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACAT1 was added\ngene: ACAT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACAT1 were set to 31268215; 25778941; 1715688\nPhenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria\tMIM#203750\nReview for gene: ACAT1 was set to GREEN\nAdded comment: Mitochondrial acetoacetyl-CoA thiolase deficiency is an inherited disorder of ketone body and isoleucine metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. Over 100 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:34:10.347756+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: XPNPEP3 as ready",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:34:10.334257+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:33:53.744457+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: XPNPEP3 as Amber List (moderate evidence)",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:33:53.737885+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: No other families reported since the two reported in 2010, and the animal model is a zebrafish rather than mouse, thus set to amber.",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:33:53.703426+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.245",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:30:55.888605+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.244",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: XPNPEP3 was added\ngene: XPNPEP3 was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XPNPEP3 were set to 20179356; 25778941\nPhenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MIM#613159\nReview for gene: XPNPEP3 was set to AMBER\nAdded comment: Two families with two different homozygous variants, and a zebrafish model. The protein localises to the mitochondria of renal cells and is involved in mitochondrial homeostasis. It belongs to a family of X-pro-aminopeptidases, and has a role in ciliary function. \nSources: NHS GMS, Literature",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:20:32.703192+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.243",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC25A20 as ready",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:20:32.693917+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.243",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a20 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:20:27.890374+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.243",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC25A20 as Green List (high evidence)",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:20:27.876630+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.243",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a20 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:19:56.828808+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.242",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A20 was added\ngene: SLC25A20 was added to Mitochondrial disease. Sources: Literature,NHS GMS\nMode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A20 were set to 9399886; 31108048; 25778941\nPhenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency MIM#212138\nReview for gene: SLC25A20 was set to GREEN\nAdded comment: >3 cases. Condition is a recessive disorder of mitochondrial fatty acid oxidation. \nSources: Literature, NHS GMS",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:13:32.219421+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.241",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC22A5 as Green List (high evidence)",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:13:32.210794+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.241",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2020-03-20T19:07:04.641709+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.240",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC22A5 was added\ngene: SLC22A5 was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC22A5 were set to 9916797; 25778941; 17884651\nPhenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary MIM#212140\nReview for gene: SLC22A5 was set to GREEN\nAdded comment: >3 cases and a mouse model. Protein has a function in carnitine-dependent oxidation of long-chain fatty acids in mitochondria and is essential for normal gut function. \nSources: NHS GMS, Literature",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:35:14.556002+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDH3A as ready",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:35:14.546473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh3a has been classified as Green List (High Evidence).",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:35:04.118533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IDH3A as Green List (high evidence)",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:35:04.105176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh3a has been classified as Green List (High Evidence).",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:34:44.701799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDH3A was added\ngene: IDH3A was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069\nPhenotypes for gene: IDH3A were set to Retinitis pigmentosa\nReview for gene: IDH3A was set to GREEN\nAdded comment: Six unrelated families reported with retinitis pigmentosa. Mouse model. \nSources: NHS GMS",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:33:27.649344+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IDH3A as Green List (high evidence)",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:33:27.639551+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh3a has been classified as Green List (High Evidence).",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:32:52.749273+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDH3A was added\ngene: IDH3A was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069\nPhenotypes for gene: IDH3A were set to Retinitis pigmentosa\nReview for gene: IDH3A was set to GREEN\nAdded comment: Six unrelated families reported with retinitis pigmentosa. Mouse model. \nSources: NHS GMS",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:15:24.249755+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HLCS as Green List (high evidence)",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:15:24.240768+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hlcs has been classified as Green List (High Evidence).",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-03-20T18:14:40.727065+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HLCS: Changed rating: GREEN",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-03-20T17:53:45.749341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATC as ready",
"entity_name": "GATC",
"entity_type": "gene"
}
]
}