{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1216","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1214","results":[{"created":"2021-09-09T12:49:00.056553+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9109","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; Deafness; Ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; Deafness; Ovarian insufficiency","entity_name":"GGPS1","entity_type":"gene"},{"created":"2021-09-09T12:48:35.074156+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9108","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GGPS1: Changed phenotypes: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518, Muscular dystrophy, Deafness, Ovarian insufficiency","entity_name":"GGPS1","entity_type":"gene"},{"created":"2021-09-09T12:32:51.751557+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.75","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9075575, 8018926, 29484404, 27667160, 31333484, 8941647, 3785322; Phenotypes: Elliptocytosis-2 MIM# 130600, Pyropoikilocytosis MIM# 266140, Spherocytosis, type 3 MIM# 270970; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SPTA1","entity_type":"gene"},{"created":"2021-09-09T11:13:15.549249+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.75","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19538529, 8102379, 9075575, 7883966, 9005995, 32256302; Phenotypes: Spherocytosis, type 2 MIM# 616649, Elliptocytosis-3 MIM# 617948, Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SPTB","entity_type":"gene"},{"created":"2021-09-09T09:53:02.176291+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.75","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32841161, 33023511, 30124850; Phenotypes: Transcobalamin II deficiency MIM# 275350, Decreased Ig levels, Megaloblastic anaemia, pancytopaenia, Reticulocytopaenia, failure to thrive, diarrhoea, hypogammaglobulinaemia, pallor, hypotonia, respiratory infection, if untreated (B12) for prolonged periods results in intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCN2","entity_type":"gene"},{"created":"2021-09-09T09:35:59.163258+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.75","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 11110675, 3472216; Phenotypes: Atransferrinaemia MIM# 209300, iron overload, hypochromic anaemia, low serum transferrin, Hemosiderosis of the heart and/or liver, Congestive heart failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TF","entity_type":"gene"},{"created":"2021-09-09T09:00:01.918290+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Tag adult-onset tag was added to STR: SCA1.","entity_name":"SCA1","entity_type":"str"},{"created":"2021-09-09T08:59:17.085664+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Tag adult-onset tag was added to STR: SBMA.","entity_name":"SBMA","entity_type":"str"},{"created":"2021-09-09T08:58:31.132392+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Tag paediatric-onset tag was added to STR: RCPS.","entity_name":"RCPS","entity_type":"str"},{"created":"2021-09-09T08:57:47.159034+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked STR: CCHS as ready","entity_name":"CCHS","entity_type":"str"},{"created":"2021-09-09T08:57:47.150775+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Str: cchs has been classified as Green List (High Evidence).","entity_name":"CCHS","entity_type":"str"},{"created":"2021-09-08T17:51:07.785734+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GSR as ready","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:51:07.775611+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsr has been classified as Amber List (Moderate Evidence).","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:51:00.531847+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GSR were changed from  to Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:50:42.895886+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9107","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GSR were set to ","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:50:24.163274+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9106","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:50:07.328437+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GSR as Amber List (moderate evidence)","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:50:07.315283+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsr has been classified as Amber List (Moderate Evidence).","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:49:51.542693+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9104","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 17185460, 31122244; Phenotypes: Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:49:06.235557+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GSR as ready","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:49:06.225443+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsr has been classified as Amber List (Moderate Evidence).","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:49:04.105173+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GSR were changed from Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder; NA Enzyme Disorder to Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:48:54.814701+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GSR were set to 8533822","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:48:37.795396+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GSR as Amber List (moderate evidence)","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:48:37.785876+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsr has been classified as Amber List (Moderate Evidence).","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T17:45:17.678313+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 17185460, 31122244; Phenotypes: Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GSR","entity_type":"gene"},{"created":"2021-09-08T09:10:56.172893+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.146","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2021-09-08T08:57:15.431488+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAGEL2 were set to 24076603; 27195816; 26365340","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-09-08T08:56:38.592104+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAGEL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-09-07T22:20:29.096257+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9104","user_name":"Anna Le Fevre","item_type":"entity","text":"reviewed gene: MKRN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32480405 33214675 31041429 32407292; Phenotypes: Central Precocious Puberty; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-09-07T22:19:43.337339+10:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"0.3","user_name":"Anna Le Fevre","item_type":"entity","text":"reviewed gene: MKRN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32480405, 33214675, 31041429, 32407292; Phenotypes: Central Precocious Puberty; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-09-07T22:10:13.347562+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9104","user_name":"Anna Le Fevre","item_type":"entity","text":"reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33820833, 24076603, 31397880, 29599419, 30302899; Phenotypes: Schaaf-Yang syndrome, Chitayat-Hall Syndrome, Arthrogryposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-09-07T22:02:47.610855+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.292","user_name":"Anna Le Fevre","item_type":"entity","text":"reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26365340, 33820833, 34128869; Phenotypes: Schaaf-Yang syndrome, Chitayat-Hall Syndrome, Arthrogryposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-09-07T20:38:58.702648+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Tag adult-onset tag was added to STR: OPMD.","entity_name":"OPMD","entity_type":"str"},{"created":"2021-09-07T20:38:23.992513+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Tag adult-onset tag was added to STR: OPDM2.","entity_name":"OPDM2","entity_type":"str"},{"created":"2021-09-07T20:37:26.577293+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Tag paediatric-onset tag was added to STR: MEDPSACH.","entity_name":"MEDPSACH","entity_type":"str"},{"created":"2021-09-07T20:37:02.473640+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Tag paediatric-onset tag was added to STR: HSAN8.","entity_name":"HSAN8","entity_type":"str"},{"created":"2021-09-07T19:50:56.702120+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FRA2A as ready","entity_name":"FRA2A","entity_type":"str"},{"created":"2021-09-07T19:50:56.692408+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fra2a has been classified as Amber List (Moderate Evidence).","entity_name":"FRA2A","entity_type":"str"},{"created":"2021-09-07T19:50:52.203402+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FRA2A as Amber List (moderate evidence)","entity_name":"FRA2A","entity_type":"str"},{"created":"2021-09-07T19:50:52.193694+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fra2a has been classified as Amber List (Moderate Evidence).","entity_name":"FRA2A","entity_type":"str"},{"created":"2021-09-07T19:50:35.557334+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.144","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FRA2A was added\nSTR: FRA2A was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: FRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FRA2A were set to 24763282\nPhenotypes for STR: FRA2A were set to Neurodevelopmental delay\nReview for STR: FRA2A was set to AMBER\nAdded comment: Three families with a wide spectrum of neurodevelopmental phenotypes with expression of folate-sensitive fragile site FRA2A. The CGG repeat is in an alternative promoter for AFF3, active in the brain. Expansion of >300 repeats causes expression of FRA2A and is associated with hypermethylation and silencing of AFF3 in at least one individual. There were 3-20 repeats in normal controls. \nSources: Literature","entity_name":"FRA2A","entity_type":"str"},{"created":"2021-09-07T19:32:58.975675+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPI as ready","entity_name":"GPI","entity_type":"gene"},{"created":"2021-09-07T19:32:58.956586+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpi has been classified as Green List (High Evidence).","entity_name":"GPI","entity_type":"gene"},{"created":"2021-09-07T19:32:56.835206+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPI were changed from 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 to Haemolytic anaemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470","entity_name":"GPI","entity_type":"gene"},{"created":"2021-09-07T19:32:45.617689+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPI were set to 411100","entity_name":"GPI","entity_type":"gene"},{"created":"2021-09-07T19:32:30.499638+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 8499925, 9856489, 32103498; Phenotypes: Haemolytic anaemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPI","entity_type":"gene"},{"created":"2021-09-07T19:19:56.915997+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UMPS as ready","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:19:56.905142+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: umps has been classified as Green List (High Evidence).","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:18:16.093815+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4109","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UMPS were changed from  to Orotic aciduria MIM# 258900","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:17:43.134131+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4108","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UMPS were set to ","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:17:17.861471+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4107","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UMPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:16:50.315390+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9042911, 33489760; Phenotypes: Orotic aciduria MIM# 258900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:12:47.829161+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UMPS as ready","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:12:47.816571+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: umps has been classified as Green List (High Evidence).","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:12:33.691006+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9104","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UMPS were changed from  to Orotic aciduria, MIM# 258900","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:09:16.409469+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9103","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UMPS were set to ","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:08:59.515406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9102","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UMPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:08:43.676794+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9101","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UMPS: Added comment: 20 unrelated patients have been reported with biallelic missense variants; one mouse model\r\n\r\nOrotic aciduria is characterised by megaloblastic anaemia and orotic acid crystalluria, frequently associated with a degree of physical and intellectual disability. Other features include, congenital malformations (Atrial/ Ventricular septal defect) and immunodeficiencies (T-cell dysfunction, failure to thrive, recurrent infections). \r\n\r\nHaematology features\r\n- Megaloblastic anaemia\r\n- Low to normal reticulocyte count\r\n- Anisocytosis\r\n- Poikilocytosis\r\n- Hypochromia; Changed publications: 9042911, 33489760; Changed phenotypes: Orotic aciduria, MIM# 258900","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:02:31.579370+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UMPS as ready","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:02:31.568756+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: umps has been classified as Green List (High Evidence).","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:02:20.459999+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UMPS were changed from 258900 Orotic aciduria with megaloblastic anaemia to Orotic aciduria MIM# 258900; megaloblastic anaemia; orotic acid crystalluria; ID; immunodeficiencies","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T19:02:08.081508+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UMPS were set to 9042911","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-09-07T18:37:20.481758+10:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"0.3","user_name":"Anna Le Fevre","item_type":"entity","text":"gene: MAGEL2 was added\ngene: MAGEL2 was added to Imprinting disorders. Sources: Literature\nMode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: MAGEL2 were set to 24076603; 31397880; 29599419; 30302899\nPhenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome; Chitayat-Hall Syndrome\nReview for gene: MAGEL2 was set to GREEN\nAdded comment: MAGEL2 is a single-exon gene.\r\nFrameshift mutations may not cause nonsense-mediated decay, but instead a variety of truncated or elongated protein products.\r\nThe pathogenicity of haploinsufficiency of the paternal allele is uncertain (ClinGen review 2018). A dominant-negative effect has been suggested. Haploinsufficiency may play a role. \nSources: Literature","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-09-07T18:35:34.012017+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.167","user_name":"Anna Le Fevre","item_type":"entity","text":"reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076603, 31397880, 29599419, 30302899; Phenotypes: Schaaf-Yang syndrome, Chitayat-Hall Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-09-07T18:33:52.753477+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4106","user_name":"Anna Le Fevre","item_type":"entity","text":"reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076603, 31397880, 29599419, 30302899; Phenotypes: Schaaf-Yang syndrome, Chitayat-Hall Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-09-07T18:25:02.911978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMPRSS6 as ready","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T18:25:02.900538+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmprss6 has been classified as Green List (High Evidence).","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T18:24:52.865346+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9101","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMPRSS6 were changed from  to Iron-refractory iron deficiency anaemia MIM# 206200; Iron malabsorption; hypochromic microcytic anaemia","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T18:24:34.904030+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9100","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMPRSS6 were set to ","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T18:23:44.018038+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9099","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMPRSS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T18:22:35.240722+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMPRSS6 as ready","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T18:22:35.231012+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmprss6 has been classified as Green List (High Evidence).","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T18:22:33.220057+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMPRSS6 were changed from Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia; 206200 Iron refractoryirondeficiencyanemia to Iron-refractory iron deficiency anaemia MIM# 206200; Iron malabsorption; hypochromic microcytic anaemia","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T18:22:21.413072+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMPRSS6 were set to 18408718","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T18:21:01.637483+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9098","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 10 unrelated families reported; bi-allelic (missense, nonsense, frameshift) variants; Common p.Glu104Asp variant in Northern European population\r\n\r\nTriosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterised by early childhood onset congenital hemolytic anaemia, and progressive neuromuscular dysfunction. Many patients die from respiratory failure in childhood. The neurological features are variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Other features include intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells and increased susceptibility to infections.; to: More than 10 unrelated families reported; bi-allelic (missense, nonsense, frameshift) variants; Common p.Glu104Asp variant in Northern European population\r\n\r\nTriosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterised by early childhood onset congenital haemolytic anaemia, and progressive neuromuscular dysfunction. Many patients die from respiratory failure in childhood. The neurological features are variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Other features include intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells and increased susceptibility to infections.","entity_name":"TPI1","entity_type":"gene"},{"created":"2021-09-07T18:20:50.830234+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9098","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TPI1: Added comment: More than 10 unrelated families reported; bi-allelic (missense, nonsense, frameshift) variants; Common p.Glu104Asp variant in Northern European population\r\n\r\nTriosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterised by early childhood onset congenital hemolytic anaemia, and progressive neuromuscular dysfunction. Many patients die from respiratory failure in childhood. The neurological features are variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Other features include intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells and increased susceptibility to infections.; Changed publications: 9338582, 32873690, 8503454; Changed phenotypes: Haemolytic anaemia due to triosephosphate isomerase deficiency, MIM# 615512","entity_name":"TPI1","entity_type":"gene"},{"created":"2021-09-07T18:19:45.446416+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPI1 as ready","entity_name":"TPI1","entity_type":"gene"},{"created":"2021-09-07T18:19:45.434381+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpi1 has been classified as Green List (High Evidence).","entity_name":"TPI1","entity_type":"gene"},{"created":"2021-09-07T18:19:42.186353+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPI1 were changed from 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder; Hemolytic anemia due to triosephosphate isomerase deficiency,615512 to Haemolytic anaemia due to triosephosphate isomerase deficiency MIM# 615512; chronic haemolytic anaemia; neuromuscular dysfunction; intracellular accumulation of dihydroxyacetone phosphate (DHAP)","entity_name":"TPI1","entity_type":"gene"},{"created":"2021-09-07T18:19:10.051466+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TPI1 were set to 11698297; 9338582","entity_name":"TPI1","entity_type":"gene"},{"created":"2021-09-07T18:19:04.630466+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4106","user_name":"Anna Le Fevre","item_type":"entity","text":"Deleted their review","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-09-07T18:17:11.699435+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.648","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YARS2 as ready","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T18:17:11.689921+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.648","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yars2 has been classified as Green List (High Evidence).","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T18:16:09.610304+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.648","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YARS2 were changed from  to Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T18:15:30.710470+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.647","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: YARS2 were set to ","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T18:14:50.864299+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.646","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: YARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T18:14:14.603241+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24430573, 24344687; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561, sideroblastic anaemia, muscle atrophy, myopathy, lactic acidosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased cytochrome C oxidase activity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T18:11:25.920771+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9098","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YARS2 as ready","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T18:11:25.911440+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9098","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yars2 has been classified as Green List (High Evidence).","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T18:07:29.335092+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4106","user_name":"Anna Le Fevre","item_type":"entity","text":"reviewed gene: MAGEL2: Rating: ; Mode of pathogenicity: None; Publications: 24076603, 30302899, 31397880; Phenotypes: Schaaf-Yang syndrome, Chitayat-Hall Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-09-07T17:43:49.988478+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9098","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YARS2 were changed from  to Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T17:43:31.464206+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9097","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: YARS2 were set to ","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T17:43:11.345495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9096","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: YARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T17:42:51.571267+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9095","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24430573, 24344687; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561, sideroblastic anaemia, muscle atrophy, myopathy, lactic acidosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased cytochrome C oxidase activity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"YARS2","entity_type":"gene"},{"created":"2021-09-07T15:24:40.870044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9095","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18408718, 8596229, 18596229, 19592582; Phenotypes: Iron-refractory iron deficiency anaemia MIM# 206200, Iron malabsorption, hypochromic microcytic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T15:24:38.080946+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.23","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18408718, 8596229, 18596229, 19592582; Phenotypes: Iron-refractory iron deficiency anaemia MIM# 206200, Iron malabsorption, hypochromic microcytic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T15:20:17.071147+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.64","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18408718, 8596229, 18596229, 19592582; Phenotypes: Iron-refractory iron deficiency anaemia MIM# 206200, Iron malabsorption, hypochromic microcytic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-09-07T15:17:10.757383+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.64","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9338582, 32873690, 8503454; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency MIM#  615512, chronic hemolytic anaemia, neuromuscular dysfunction, intracellular accumulation of dihydroxyacetone phosphate (DHAP); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TPI1","entity_type":"gene"},{"created":"2021-09-07T14:33:58.400839+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLRX5 as ready","entity_name":"GLRX5","entity_type":"gene"}]}