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[
{
"created": "2023-04-13T15:29:49.967177Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PDHX were changed from PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY OMIM:245349; pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009503 to Lacticacidemia due to PDX1 deficiency, OMIM:245349",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2023-04-13T15:28:02.371818Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY OMIM:614111; pyruvate dehydrogenase E1-beta deficiency MONDO:0013580 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2023-04-13T13:42:52.949980Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563 to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2021-11-24T12:14:04.186760Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IBA57 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 OMIM:615330; multiple mitochondrial dysfunctions syndrome 3 MONDO:0014132 to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2021-05-26T12:00:50.205316Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 OMIM:605711; multiple mitochondrial dysfunctions syndrome 1 MONDO:0011582 to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Multiple mitochondrial dysfunctions syndrome 1, MONDO:0011582",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:55:08.431189Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PDP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:41:48.346009Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Comment on phenotypes: There is no formal gene / disease association for PDP2.; to: Comment on phenotypes: There is no formal gene / disease association for PDP2, but pyruvate dehydrogenase deficiency MONDO:0019169 seemed a good generic phenotype for this gene.",
"entity_name": "PDP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:40:10.275876Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: There is no formal gene / disease association for PDP2.",
"entity_name": "PDP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:40:10.255806Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PDP2 were changed from to pyruvate dehydrogenase deficiency MONDO:0019169",
"entity_name": "PDP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:27:49.055185Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: TPK1 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) OMIM:614458; childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013761",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:25:51.943879Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A26 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794 to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 OMIM:616794; combined oxidative phosphorylation deficiency 28 MONDO:0014775",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:23:52.916962Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A19 were changed from MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 to MICROCEPHALY, AMISH TYPEOMIM:607196; Amish lethal microcephaly MONDO:0011790; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710; progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:19:55.494367Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.25",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A3 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) OMIM:607483; biotin-responsive basal ganglia disease MONDO:0011841",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:15:34.972954Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.24",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A2 were changed from THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270 to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME OMIM:249270; thiamine-responsive megaloblastic anemia syndrome MONDO:0009575",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:14:10.420494Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.23",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PDP1 were changed from PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782; pyruvate dehydrogenase phosphatase deficiency MONDO:0012120",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:11:54.928503Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.22",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PDHX were changed from PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349 to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY OMIM:245349; pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009503",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:10:24.128857Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.21",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111 to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY OMIM:614111; pyruvate dehydrogenase E1-beta deficiency MONDO:0013580",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:09:04.320856Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PDHA1 were changed from PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170 to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY OMIM:312170; pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:07:47.078482Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 OMIM:605711; multiple mitochondrial dysfunctions syndrome 1 MONDO:0011582",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:05:49.479612Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373 to CODAS syndrome OMIM:600373; CODAS syndrome MONDO:0010879",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:04:27.869811Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: LIPT2 were changed from ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668; encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:0060562",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2021-03-17T15:01:41.209075Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: LIPT1 were changed from LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 to LIPOYLTRANSFERASE 1 DEFICIENCY OMIM:616299; lipoyl transferase 1 deficiency MONDO:0014576",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:58:46.993235Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.15",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ISCA2 were set to ",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:56:48.122658Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: ISCA2 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 OMIM:616370; multiple mitochondrial dysfunctions syndrome 4 MONDO:0014611",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:55:56.153823Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ISCA1 were set to 29767723; PMID: 28356563",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:54:43.805807Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: ISCA1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM:617613; multiple mitochondrial dysfunctions syndrome 5 MONDO:0033282",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:53:13.348567Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: IBA57 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 OMIM:615330; multiple mitochondrial dysfunctions syndrome 3 MONDO:0014132",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:49:24.708424Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: HIBCH were changed from 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620 to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY OMIM:250620; 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:47:41.774651Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: GLRX5 were changed from SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860 to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA OMIM:616859; spasticity-ataxia-gait anomalies syndrome MONDO:0014803; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY OMIM:616860; sideroblastic anemia 3 MONDO:0014804",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:43:54.743717Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: FBXL4 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:40:16.101502Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277 to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:38:30.590771Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: DLD were changed from DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY OMIM:246900; pyruvate dehydrogenase E3 deficiency MONDO:0009529",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:37:02.222326Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: DLAT were changed from PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348 to PYRUVATE DEHYDROGENASE E2 DEFICIENCY OMIM:245348; pyruvate dehydrogenase E2 deficiency MONDO:0009502",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:34:46.147283Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA OMIM:614299; multiple mitochondrial dysfunctions syndrome 2 MONDO:0013675",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2020-02-17T15:27:02.880001Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-27T11:00:31.951199Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.1",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T15:34:29.574602Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T15:28:35.452588Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.8",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to R316",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T15:27:52.373304Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.7",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-02-25T16:26:03.540389Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: ISCA1 as ready",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2019-02-25T16:26:03.534898Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: isca1 has been classified as Green List (High Evidence).",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2019-02-25T16:25:56.321592Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: PDPR as ready",
"entity_name": "PDPR",
"entity_type": "gene"
},
{
"created": "2019-02-25T16:25:56.314712Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: pdpr has been classified as Red List (Low Evidence).",
"entity_name": "PDPR",
"entity_type": "gene"
},
{
"created": "2019-02-25T16:15:55.948476Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: LIPT2 as ready",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2019-02-25T16:15:55.942464Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: lipt2 has been classified as Green List (High Evidence).",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2019-02-25T16:15:47.660343Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: LIPT2 as Green List (high evidence)",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2019-02-25T16:15:47.657583Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green. 3 patients (2 siblings) reported with biallelic variants in this gene and severe neonatal encephalopathy, with functional evidence supporting a mitochondrial lipoylation defect as well as this protein being in the same pathway as LIPT1.",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2019-02-25T16:15:47.641501Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: lipt2 has been classified as Green List (High Evidence).",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2019-02-25T15:56:55.511264Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.4",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on gene: PDPR: Confirmed in the NHSE GMS Mitochondrial Specialist Group Meeting on 25th February 2019 that this should be Red, as no further published evidence has come out.",
"entity_name": "PDPR",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.204853Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PDPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown",
"entity_name": "PDPR",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.192220Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PDP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown",
"entity_name": "PDP2",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.179624Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.165195Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.152151Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710, MICROCEPHALY, AMISH TYPE, 607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.138613Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.123936Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.111694Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.099469Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.083387Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15138885, 18164639, 19924563; Phenotypes: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.071419Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.058919Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.045944Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30304514; Phenotypes: CODAS syndrome, 600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.033231Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28757203, 28803783; Phenotypes: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.020961Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIPOYLTRANSFERASE 1 DEFICIENCY, 616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:33.008652Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:32.996830Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:32.984981Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28356563, 29767723; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:32.972760Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:32.958268Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:32.945506Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:32.931631Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25868664; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:32.918087Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:32.903755Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:32.890047Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:42:32.875431Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:09.308979Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PDPR was added\ngene: PDPR was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS\nMode of inheritance for gene: PDPR was set to Unknown",
"entity_name": "PDPR",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:09.195862Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PDP2 was added\ngene: PDP2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS\nMode of inheritance for gene: PDP2 was set to Unknown",
"entity_name": "PDP2",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:09.132073Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TPK1 was added\ngene: TPK1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPK1 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:09.084544Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SLC25A26 was added\ngene: SLC25A26 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A26 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:09.029457Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SLC25A19 was added\ngene: SLC25A19 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A19 were set to MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.985150Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SLC19A3 was added\ngene: SLC19A3 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.939743Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SLC19A2 was added\ngene: SLC19A2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A2 were set to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.893112Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PDP1 was added\ngene: PDP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDP1 were set to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.838429Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PDHX was added\ngene: PDHX was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDHX were set to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.732214Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PDHB was added\ngene: PDHB was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDHB were set to 18164639; 15138885; 19924563\nPhenotypes for gene: PDHB were set to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.691121Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PDHA1 was added\ngene: PDHA1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: PDHA1 were set to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.649443Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: NFU1 was added\ngene: NFU1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.610067Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LONP1 was added\ngene: LONP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LONP1 were set to 30304514\nPhenotypes for gene: LONP1 were set to CODAS syndrome, 600373",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.571956Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LIPT2 was added\ngene: LIPT2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIPT2 were set to 28757203; 28803783\nPhenotypes for gene: LIPT2 were set to ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.532971Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LIPT1 was added\ngene: LIPT1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPT1 were set to LIPOYLTRANSFERASE 1 DEFICIENCY, 616299",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.493683Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LIAS was added\ngene: LIAS was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIAS were set to HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.451478Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ISCA2 was added\ngene: ISCA2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISCA2 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.413254Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ISCA1 was added\ngene: ISCA1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISCA1 were set to 29767723; PMID: 28356563\nPhenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.367858Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: IBA57 was added\ngene: IBA57 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IBA57 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.328184Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: HIBCH was added\ngene: HIBCH was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HIBCH were set to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.289408Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GLRX5 was added\ngene: GLRX5 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLRX5 were set to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.250768Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: FBXL4 was added\ngene: FBXL4 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXL4 were set to 25868664\nPhenotypes for gene: FBXL4 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.211373Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ECHS1 was added\ngene: ECHS1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.168466Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DLD was added\ngene: DLD was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.127101Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DLAT was added\ngene: DLAT was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2019-02-01T14:39:08.080524Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BOLA3 was added\ngene: BOLA3 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2018-11-16T10:21:10.764113Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Pyruvate dehydrogenase (PDH) deficiency\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]