{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=300","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=298","results":[{"created":"2025-01-31T13:30:17.739760+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17277775, 19088120, 27864101, 33737016, 18566967; Phenotypes: Osteogenesis imperfecta, type VIII, MIM#610915; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"P3H1","entity_type":"gene"},{"created":"2025-01-31T13:24:39.655725+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844, 38982518; Phenotypes: Immunodeficiency 9, MIM#612782, Myopathy, tubular aggregate, 2, MIM#615883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ORAI1","entity_type":"gene"},{"created":"2025-01-31T13:18:50.030413+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24952175, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFS1","entity_type":"gene"},{"created":"2025-01-31T10:51:41.867079+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2274","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPA1 as ready","entity_name":"PPA1","entity_type":"gene"},{"created":"2025-01-31T10:51:41.854899+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppa1 has been classified as Red List (Low Evidence).","entity_name":"PPA1","entity_type":"gene"},{"created":"2025-01-31T10:51:34.071878+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPA1 as ready","entity_name":"PPA1","entity_type":"gene"},{"created":"2025-01-31T10:51:34.057834+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppa1 has been classified as Red List (Low Evidence).","entity_name":"PPA1","entity_type":"gene"},{"created":"2025-01-31T10:51:25.298135+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2274","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPA1 was added\ngene: PPA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPA1 were set to 37999237\nPhenotypes for gene: PPA1 were set to Galactosaemia, MONDO:0018116\nReview for gene: PPA1 was set to RED\nAdded comment: Homozygous missense variant detected in two siblings with increased galactose and galactose-related metabolites ascertained in neonatal screening. Some supportive functional data. \nSources: Literature","entity_name":"PPA1","entity_type":"gene"},{"created":"2025-01-31T10:49:39.717877+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPA1 was added\ngene: PPA1 was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: PPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPA1 were set to 37999237\nPhenotypes for gene: PPA1 were set to Galactosaemia, MONDO:0018116\nReview for gene: PPA1 was set to RED\nAdded comment: Homozygous missense variant detected in two siblings with increased galactose and galactose-related metabolites ascertained in neonatal screening. Some supportive functional data. \nSources: Literature","entity_name":"PPA1","entity_type":"gene"},{"created":"2025-01-31T10:44:39.812201+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPL as ready","entity_name":"MPL","entity_type":"gene"},{"created":"2025-01-31T10:44:39.800155+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpl has been classified as Green List (High Evidence).","entity_name":"MPL","entity_type":"gene"},{"created":"2025-01-31T10:44:23.890111+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1397","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPL were set to ","entity_name":"MPL","entity_type":"gene"},{"created":"2025-01-31T10:44:00.108656+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1396","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTHFR as ready","entity_name":"MTHFR","entity_type":"gene"},{"created":"2025-01-31T10:44:00.092422+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1396","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mthfr has been classified as Green List (High Evidence).","entity_name":"MTHFR","entity_type":"gene"},{"created":"2025-01-31T10:43:56.843955+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1396","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency, 236250 (3) to Homocystinuria due to MTHFR deficiency, MIM# 236250","entity_name":"MTHFR","entity_type":"gene"},{"created":"2025-01-31T10:43:44.608136+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1395","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTHFR were set to ","entity_name":"MTHFR","entity_type":"gene"},{"created":"2025-01-31T10:43:16.079064+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1394","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUT as ready","entity_name":"MUT","entity_type":"gene"},{"created":"2025-01-31T10:43:16.065996+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1394","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mut has been classified as Green List (High Evidence).","entity_name":"MUT","entity_type":"gene"},{"created":"2025-01-31T10:43:09.389778+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1394","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, 251000 (3) to Methylmalonic aciduria, mut(0) type, MIM# 251000","entity_name":"MUT","entity_type":"gene"},{"created":"2025-01-31T10:42:42.348774+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1393","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LDLRAP1 as ready","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2025-01-31T10:42:42.337404+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1393","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldlrap1 has been classified as Green List (High Evidence).","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2025-01-31T10:42:37.825914+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1393","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive, 603813 (3) to Familial hypercholesterolemia 4, MIM#603813","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2025-01-31T10:42:26.456585+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1392","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LDLRAP1 were set to ","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2025-01-31T10:42:02.444895+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LEP as ready","entity_name":"LEP","entity_type":"gene"},{"created":"2025-01-31T10:42:02.397112+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lep has been classified as Green List (High Evidence).","entity_name":"LEP","entity_type":"gene"},{"created":"2025-01-31T10:41:59.162114+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1391","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962 (3) to Obesity, morbid, due to leptin deficiency, MIM#614962","entity_name":"LEP","entity_type":"gene"},{"created":"2025-01-31T10:41:46.874560+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1390","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LEP were set to ","entity_name":"LEP","entity_type":"gene"},{"created":"2025-01-31T10:41:17.053999+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1389","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT80 as ready","entity_name":"IFT80","entity_type":"gene"},{"created":"2025-01-31T10:41:17.042286+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift80 has been classified as Green List (High Evidence).","entity_name":"IFT80","entity_type":"gene"},{"created":"2025-01-31T10:41:13.761816+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1389","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT80 were changed from Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3) to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644","entity_name":"IFT80","entity_type":"gene"},{"created":"2025-01-31T10:41:01.092162+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1388","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT80 were set to ","entity_name":"IFT80","entity_type":"gene"},{"created":"2025-01-31T10:39:37.686838+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2273","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DMRT1 were changed from Azoospermia to 46,XY disorder of sex development, MONDO:0020040","entity_name":"DMRT1","entity_type":"gene"},{"created":"2025-01-31T10:38:42.684804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2272","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DMRT1 as Amber List (moderate evidence)","entity_name":"DMRT1","entity_type":"gene"},{"created":"2025-01-31T10:38:42.671159+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2272","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmrt1 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT1","entity_type":"gene"},{"created":"2025-01-31T10:00:12.880428+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2271","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DMRT1: Added comment: DMRT1 gene exclusively expressed in male gonads. Thought not to affect ovarian development.\r\nGene included three international studies - see PMID: 28295047 supplemental article Fig 1 patient 19, 46XY with hypoplastic labia, uterus present had DMRT1 c.251A>G p.Tyr84Cys maternally inherited VOUS\r\nPMID: 26005864: p.R111G also described in complete gonadal dysgenesis; Changed rating: AMBER; Changed publications: 31479588, 24934491, 29527098, 26005864, 28295047; Changed phenotypes: 46,XY disorder of sex development, MONDO:0020040","entity_name":"DMRT1","entity_type":"gene"},{"created":"2025-01-31T09:58:16.377265+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DMRT1 were set to PMID: 31479588; 24934491; 29527098","entity_name":"DMRT1","entity_type":"gene"},{"created":"2025-01-31T09:57:31.509236+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DMRT1 were changed from Azoospermia to 46,XY disorder of sex development, MONDO:0020040","entity_name":"DMRT1","entity_type":"gene"},{"created":"2025-01-31T09:56:38.726847+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DMRT1 as Amber List (moderate evidence)","entity_name":"DMRT1","entity_type":"gene"},{"created":"2025-01-31T09:56:38.711994+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmrt1 has been classified as Amber List (Moderate Evidence).","entity_name":"DMRT1","entity_type":"gene"},{"created":"2025-01-31T09:51:38.705638+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR0B1 were set to 7951319","entity_name":"NR0B1","entity_type":"gene"},{"created":"2025-01-31T09:50:14.217815+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1387","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMBRD1 as ready","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2025-01-31T09:50:14.202570+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbrd1 has been classified as Green List (High Evidence).","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2025-01-31T09:50:10.821146+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1387","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMBRD1 were changed from Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) to Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2025-01-31T09:49:54.566532+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1386","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LMBRD1 were set to ","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2025-01-31T09:49:27.198266+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1385","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZDHHC9 as ready","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2025-01-31T09:49:27.179065+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1385","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zdhhc9 has been classified as Green List (High Evidence).","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2025-01-31T09:49:24.060458+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1385","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZDHHC9 were changed from Mental retardation, X-linked syndromic, Raymond type, 300799 (3) to Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2025-01-31T09:49:05.613375+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1384","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZDHHC9 were set to ","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2025-01-31T09:48:22.873939+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1383","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VSX2 as ready","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-01-31T09:48:22.857543+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vsx2 has been classified as Green List (High Evidence).","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-01-31T09:48:19.344857+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1383","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VSX2 were changed from Microphthalmia with coloboma 3, 610092 (3) to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-01-31T09:48:05.394233+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1382","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VSX2 were set to ","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-01-31T09:47:32.938404+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1381","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS53 as ready","entity_name":"VPS53","entity_type":"gene"},{"created":"2025-01-31T09:47:32.928442+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1381","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps53 has been classified as Green List (High Evidence).","entity_name":"VPS53","entity_type":"gene"},{"created":"2025-01-31T09:47:26.466825+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1381","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS53 were changed from Pontocerebellar hypoplasia, type 2E, 615851 (3) to Pontocerebellar hypoplasia, type 2E, MIM#615851","entity_name":"VPS53","entity_type":"gene"},{"created":"2025-01-31T09:47:13.615648+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1380","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS53 were set to ","entity_name":"VPS53","entity_type":"gene"},{"created":"2025-01-31T09:46:41.638833+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1379","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCPH1 as ready","entity_name":"MCPH1","entity_type":"gene"},{"created":"2025-01-31T09:46:41.627122+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1379","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcph1 has been classified as Green List (High Evidence).","entity_name":"MCPH1","entity_type":"gene"},{"created":"2025-01-31T09:45:44.818022+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1379","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive, 251200 (3) to Microcephaly 1, primary, autosomal recessive, MIM#251200","entity_name":"MCPH1","entity_type":"gene"},{"created":"2025-01-31T09:45:33.235916+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1378","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MCPH1 were set to ","entity_name":"MCPH1","entity_type":"gene"},{"created":"2025-01-31T09:44:49.305735+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1377","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPV17 as ready","entity_name":"MPV17","entity_type":"gene"},{"created":"2025-01-31T09:44:49.292833+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1377","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpv17 has been classified as Green List (High Evidence).","entity_name":"MPV17","entity_type":"gene"},{"created":"2025-01-31T09:44:34.635685+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1377","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810","entity_name":"MPV17","entity_type":"gene"},{"created":"2025-01-31T09:44:12.026359+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1376","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPV17 were set to ","entity_name":"MPV17","entity_type":"gene"},{"created":"2025-01-31T09:43:47.154854+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1375","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTO1 as ready","entity_name":"MTO1","entity_type":"gene"},{"created":"2025-01-31T09:43:47.137317+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1375","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mto1 has been classified as Green List (High Evidence).","entity_name":"MTO1","entity_type":"gene"},{"created":"2025-01-31T09:43:43.199024+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1375","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTO1 were changed from Combined oxidative phosphorylation deficiency 10, 614702 (3) to Combined oxidative phosphorylation deficiency 10, MIM#614702","entity_name":"MTO1","entity_type":"gene"},{"created":"2025-01-31T09:43:30.837811+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1374","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTO1 were set to ","entity_name":"MTO1","entity_type":"gene"},{"created":"2025-01-31T09:42:59.147028+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1373","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MVK as ready","entity_name":"MVK","entity_type":"gene"},{"created":"2025-01-31T09:42:59.129913+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1373","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mvk has been classified as Green List (High Evidence).","entity_name":"MVK","entity_type":"gene"},{"created":"2025-01-31T09:42:55.868966+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1373","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MVK were changed from Mevalonic aciduria, 610377 (3) to Mevalonic aciduria, MIM#610377; Hyper-IgD syndrome, MIM#260920","entity_name":"MVK","entity_type":"gene"},{"created":"2025-01-31T09:42:39.207811+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1372","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MVK were set to ","entity_name":"MVK","entity_type":"gene"},{"created":"2025-01-31T09:42:14.470435+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1371","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYO5B as ready","entity_name":"MYO5B","entity_type":"gene"},{"created":"2025-01-31T09:42:14.445862+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1371","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo5b has been classified as Green List (High Evidence).","entity_name":"MYO5B","entity_type":"gene"},{"created":"2025-01-31T09:42:11.138827+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1371","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850 (3) to Cholestasis, progressive familial intrahepatic, 10, MIM#619868; Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850","entity_name":"MYO5B","entity_type":"gene"},{"created":"2025-01-31T09:41:58.099052+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1370","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO5B were set to ","entity_name":"MYO5B","entity_type":"gene"},{"created":"2025-01-31T09:41:31.639718+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1369","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFA10 as ready","entity_name":"NDUFA10","entity_type":"gene"},{"created":"2025-01-31T09:41:31.625976+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa10 has been classified as Green List (High Evidence).","entity_name":"NDUFA10","entity_type":"gene"},{"created":"2025-01-31T09:41:22.075856+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1369","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA10 were changed from Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243","entity_name":"NDUFA10","entity_type":"gene"},{"created":"2025-01-31T09:40:56.619285+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1368","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA10 were set to ","entity_name":"NDUFA10","entity_type":"gene"},{"created":"2025-01-31T08:34:14.860755+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492, 28247337; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFA10","entity_type":"gene"},{"created":"2025-01-31T08:24:22.757408+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534, 27532546; Phenotypes: Cholestasis, progressive familial intrahepatic, 10, MIM#619868, Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO5B","entity_type":"gene"},{"created":"2025-01-31T08:06:43.246393+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27012807, 16722536; Phenotypes: Mevalonic aciduria, MIM#610377, Hyper-IgD syndrome, MIM#260920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MVK","entity_type":"gene"},{"created":"2025-01-31T07:59:18.852923+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, MIM#614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTO1","entity_type":"gene"},{"created":"2025-01-31T07:55:36.453724+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22508010, 26437932, 30298599; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPV17","entity_type":"gene"},{"created":"2025-01-31T07:47:53.662320+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20978018, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM#251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCPH1","entity_type":"gene"},{"created":"2025-01-30T21:48:13.735503+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 24577744, 30100179; Phenotypes: Pontocerebellar hypoplasia, type 2E, MIM#615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS53","entity_type":"gene"},{"created":"2025-01-30T21:27:39.262625+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 8630490, 17661825, 3378363, 10932181; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-01-30T21:09:10.494352+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000327, 29681091, 28687527; Phenotypes: Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2025-01-30T16:28:18.700604+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19136951; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2025-01-30T11:08:35.704208+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.2","user_name":"Tashunka Taylor-Miller","item_type":"entity","text":"reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28295047; Phenotypes: http://purl.obolibrary.org/obo/MONDO_0020040; 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":"NR0B1","entity_type":"gene"},{"created":"2025-01-30T11:02:42.059435+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.2","user_name":"Tashunka Taylor-Miller","item_type":"entity","text":"reviewed gene: DMRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26005864, 28295047; Phenotypes: http://purl.obolibrary.org/obo/MONDO_0020040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DMRT1","entity_type":"gene"},{"created":"2025-01-29T22:33:09.819826+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Clare Hunt","item_type":"entity","text":"reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263, MONDO:0012644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT80","entity_type":"gene"},{"created":"2025-01-29T16:48:54.462444+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26567097, 31483094; Phenotypes: Obesity, morbid, due to leptin deficiency, MIM#614962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LEP","entity_type":"gene"},{"created":"2025-01-29T16:39:49.988445+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Familial hypercholesterolemia 4, MIM#603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2025-01-29T15:34:42.448226+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lauren Thomas","item_type":"entity","text":"changed review comment from: Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. Variable severity and age of onset:\r\n       • Infantile completely deficient (mut0) or non-B12-responsive (clbB) is the most common phenotype and presents during infancy. Infants are normal at birth, but develop lethargy, vomiting, and dehydration within the first few months of life. They may also exhibit hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, ketosis and ketonuria, hyperammonemia, and hyperglycemia.\r\n       • Partially deficient (mut-) or B12-responsive (cblA, cblD, rarely cblB) is an intermediate phenotype that can occur in the first few months or years of life. Symptoms include feeding problems, failure to thrive, hypotonia, and developmental delay. Some have protein aversion and vomiting, and lethargy after protein intake.\r\n\r\nHGNC approved symbol/name: MMUT *\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nTreatments available: cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant\r\nKnown technical challenges? No \r\nGene reported in 3 independent families: Yes \r\n\r\n* NOTE: gene previously called MUT; to: Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. Variable severity and age of onset:\r\n\r\n       • Infantile completely deficient (mut0) or non-B12-responsive (clbB) is the most common phenotype and presents during infancy. Infants are normal at birth, but develop lethargy, vomiting, and dehydration within the first few months of life. They may also exhibit hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, ketosis and ketonuria, hyperammonemia, and hyperglycemia.\r\n\r\n       • Partially deficient (mut-) or B12-responsive (cblA, cblD, rarely cblB) is an intermediate phenotype that can occur in the first few months or years of life. Symptoms include feeding problems, failure to thrive, hypotonia, and developmental delay. Some have protein aversion and vomiting, and lethargy after protein intake.\r\n\r\nHGNC approved symbol/name: MMUT *\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nTreatments available: cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant\r\nKnown technical challenges? No \r\nGene reported in 3 independent families: Yes \r\n\r\n* NOTE: gene previously called MUT","entity_name":"MUT","entity_type":"gene"},{"created":"2025-01-29T15:33:49.472934+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MUT","entity_type":"gene"},{"created":"2025-01-29T15:09:03.874189+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lauren Thomas","item_type":"entity","text":"changed review comment from: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.\r\n\r\nHGNC approved symbol/name: MTHFR\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? No \r\nGene reported in 3 independent families: Yes \r\n\r\nNOTE: common variants not associated with severe disease are not reported; to: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.\r\n\r\nHGNC approved symbol/name: MTHFR\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? No \r\nGene reported in 3 independent families: Yes ","entity_name":"MTHFR","entity_type":"gene"},{"created":"2025-01-29T15:02:37.073290+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25024447, 8456826; Phenotypes: Homocystinuria due to MTHFR deficiency, MIM# 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTHFR","entity_type":"gene"},{"created":"2025-01-29T14:46:41.630310+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1367","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 17054430, 16351641, 11133753; Phenotypes: Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPL","entity_type":"gene"}]}