{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1349","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1347","results":[{"created":"2021-04-16T14:31:22.779092+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.70","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Amber for MM gene list as disputed for autism and rare for ID.","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-16T14:31:22.756642+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.70","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rpl10 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-16T10:49:44.652129+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.69","user_name":"Sarah Righetti","item_type":"entity","text":"changed review comment from: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722.\r\n\r\nNote that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35,  MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation); to: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722.\r\n\r\nNote that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35,  MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation). The syndromal form is rare - a total of 10 males have been reported in the literature (PMID: 29066376). \r\n\r\nGiven the disputed link to autism, and rarity of the syndromal form of the condition, the gene has been excluded from the MM panel.","entity_name":"RPL10","entity_type":"gene"},{"created":"2021-04-16T09:10:03.510227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNH1 as ready","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:10:03.492484+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnh1 has been classified as Green List (High Evidence).","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:09:55.900743+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7206","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNH1 were changed from  to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:09:34.626647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7205","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNH1 were set to ","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:09:16.039874+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7204","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:08:57.790597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7203","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811134; Phenotypes: Temple-Baraitser syndrome, OMIM:611816, Zimmermann-Laband syndrome 1, OMIM:135500, Intellectual disability, Encephalopathy without features of TBS/ZLS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:07:56.271139+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3687","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNH1 as ready","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:07:56.260307+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3687","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnh1 has been classified as Green List (High Evidence).","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:07:52.266604+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3687","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNH1 were changed from  to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:07:19.160986+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3686","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNH1 were set to ","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:06:46.786386+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3685","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-16T09:05:24.233584+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7203","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, OMIM# 617805 to Renal hypodysplasia/aplasia 3, OMIM# 617805; Deafness, autosomal dominant 80, MIM# 619274","entity_name":"GREB1L","entity_type":"gene"},{"created":"2021-04-16T09:04:24.921085+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7202","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GREB1L were set to 29100091","entity_name":"GREB1L","entity_type":"gene"},{"created":"2021-04-16T09:03:56.813254+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7201","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GREB1L: Added comment: DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves. Four unrelated families reported, no comment on a renal phenotype. Note variants in this gene are also associated with renal agenesis.; Changed publications: 29100091, 29955957, 32585897; Changed phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805, Deafness, autosomal dominant 80, MIM# 619274","entity_name":"GREB1L","entity_type":"gene"},{"created":"2021-04-15T21:20:28.897721+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3684","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811134; Phenotypes: Temple-Baraitser syndrome, OMIM:611816, Zimmermann-Laband syndrome 1, OMIM:135500, Intellectual disability, Encephalopathy without features of TBS/ZLS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNH1","entity_type":"gene"},{"created":"2021-04-15T20:52:08.184614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7201","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: PLD1.","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-04-15T20:51:12.364977+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COQ9 as ready","entity_name":"COQ9","entity_type":"gene"},{"created":"2021-04-15T20:51:12.355506+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq9 has been classified as Green List (High Evidence).","entity_name":"COQ9","entity_type":"gene"},{"created":"2021-04-15T20:51:09.203528+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COQ9 were changed from dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly to Coenzyme Q10 deficiency, primary, 5, MIM# 614654; dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly","entity_name":"COQ9","entity_type":"gene"},{"created":"2021-04-15T20:50:52.417222+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582","entity_name":"COQ9","entity_type":"gene"},{"created":"2021-04-15T20:50:34.564717+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COQ9 as Green List (high evidence)","entity_name":"COQ9","entity_type":"gene"},{"created":"2021-04-15T20:50:34.553446+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq9 has been classified as Green List (High Evidence).","entity_name":"COQ9","entity_type":"gene"},{"created":"2021-04-15T20:50:25.086278+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM# 614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COQ9","entity_type":"gene"},{"created":"2021-04-15T20:49:28.878131+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIPEP as ready","entity_name":"MIPEP","entity_type":"gene"},{"created":"2021-04-15T20:49:28.867831+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mipep has been classified as Green List (High Evidence).","entity_name":"MIPEP","entity_type":"gene"},{"created":"2021-04-15T20:49:23.620427+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MIPEP were changed from cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts to Combined oxidative phosphorylation deficiency 31, MIM# 617228; cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts","entity_name":"MIPEP","entity_type":"gene"},{"created":"2021-04-15T20:49:05.355652+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIPEP as Green List (high evidence)","entity_name":"MIPEP","entity_type":"gene"},{"created":"2021-04-15T20:49:05.346231+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mipep has been classified as Green List (High Evidence).","entity_name":"MIPEP","entity_type":"gene"},{"created":"2021-04-15T20:48:54.545071+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MIPEP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 31, MIM# 617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MIPEP","entity_type":"gene"},{"created":"2021-04-15T20:47:55.219813+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS22 as ready","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-04-15T20:47:55.210138+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps22 has been classified as Green List (High Evidence).","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-04-15T20:47:51.963478+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS22 were changed from hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI to Combined oxidative phosphorylation deficiency 5 , MIM#611719; hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-04-15T20:47:39.839205+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-04-15T20:47:12.899565+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPS22 as Green List (high evidence)","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-04-15T20:47:12.890351+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps22 has been classified as Green List (High Evidence).","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-04-15T20:46:59.328880+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 5 , MIM#611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-04-15T20:45:58.733311+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS14 as ready","entity_name":"MRPS14","entity_type":"gene"},{"created":"2021-04-15T20:45:58.722414+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps14 has been classified as Red List (Low Evidence).","entity_name":"MRPS14","entity_type":"gene"},{"created":"2021-04-15T20:45:50.584337+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS14 were changed from hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability to Combined oxidative phosphorylation deficiency 38, MIM# 618378; hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability","entity_name":"MRPS14","entity_type":"gene"},{"created":"2021-04-15T20:45:32.616126+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPS14 as Red List (low evidence)","entity_name":"MRPS14","entity_type":"gene"},{"created":"2021-04-15T20:45:32.605340+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps14 has been classified as Red List (Low Evidence).","entity_name":"MRPS14","entity_type":"gene"},{"created":"2021-04-15T20:45:07.499705+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MRPS14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS14","entity_type":"gene"},{"created":"2021-04-15T20:44:12.771756+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELAC2 as ready","entity_name":"ELAC2","entity_type":"gene"},{"created":"2021-04-15T20:44:12.761874+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elac2 has been classified as Green List (High Evidence).","entity_name":"ELAC2","entity_type":"gene"},{"created":"2021-04-15T20:44:02.911159+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELAC2 were changed from cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities to Combined oxidative phosphorylation deficiency 17, MIM# 615440; cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities","entity_name":"ELAC2","entity_type":"gene"},{"created":"2021-04-15T20:43:43.868758+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM# 615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ELAC2","entity_type":"gene"},{"created":"2021-04-15T20:43:17.028388+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ELAC2 as Green List (high evidence)","entity_name":"ELAC2","entity_type":"gene"},{"created":"2021-04-15T20:43:17.016496+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elac2 has been classified as Green List (High Evidence).","entity_name":"ELAC2","entity_type":"gene"},{"created":"2021-04-15T20:42:40.387507+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UQCRFS1 as Green List (high evidence)","entity_name":"UQCRFS1","entity_type":"gene"},{"created":"2021-04-15T20:42:40.376692+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uqcrfs1 has been classified as Green List (High Evidence).","entity_name":"UQCRFS1","entity_type":"gene"},{"created":"2021-04-15T20:42:30.203267+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UQCRFS1: Added comment: Functional evidence in addition to the two families reported, upgrade to Green.; Changed rating: GREEN","entity_name":"UQCRFS1","entity_type":"gene"},{"created":"2021-04-15T20:41:27.105155+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UQCRFS1 as ready","entity_name":"UQCRFS1","entity_type":"gene"},{"created":"2021-04-15T20:41:27.092028+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).","entity_name":"UQCRFS1","entity_type":"gene"},{"created":"2021-04-15T20:41:24.103084+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UQCRFS1 were changed from cardiomyopathy; thrombocytopenia; hypotonia to Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; cardiomyopathy; thrombocytopenia; hypotonia","entity_name":"UQCRFS1","entity_type":"gene"},{"created":"2021-04-15T20:41:03.662124+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UQCRFS1 as Amber List (moderate evidence)","entity_name":"UQCRFS1","entity_type":"gene"},{"created":"2021-04-15T20:41:03.651414+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).","entity_name":"UQCRFS1","entity_type":"gene"},{"created":"2021-04-15T20:40:53.596851+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UQCRFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UQCRFS1","entity_type":"gene"},{"created":"2021-04-15T20:37:43.261735+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMM2 as ready","entity_name":"PMM2","entity_type":"gene"},{"created":"2021-04-15T20:37:43.251529+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmm2 has been classified as Green List (High Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2021-04-15T20:37:38.972958+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PMM2 were changed from hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros to Congenital disorder of glycosylation, type Ia, MIM# 212065; hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros","entity_name":"PMM2","entity_type":"gene"},{"created":"2021-04-15T20:37:26.276641+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PMM2 were set to PMID: 28954837: PMID: 33388235","entity_name":"PMM2","entity_type":"gene"},{"created":"2021-04-15T20:37:10.205887+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMM2 as Green List (high evidence)","entity_name":"PMM2","entity_type":"gene"},{"created":"2021-04-15T20:37:10.196562+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmm2 has been classified as Green List (High Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2021-04-15T20:37:00.163199+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28954837, 33388235; Phenotypes: Congenital disorder of glycosylation, type Ia, MIM# 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMM2","entity_type":"gene"},{"created":"2021-04-15T20:32:34.707828+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD17B10 as ready","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2021-04-15T20:32:34.698076+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b10 has been classified as Green List (High Evidence).","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2021-04-15T20:32:30.435379+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD17B10 were changed from intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration to HSD10 mitochondrial disease, MIM# 300438; intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2021-04-15T20:32:17.603653+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSD17B10 were set to PMID: 22127393 (review paper): PubMed: 20077426 (source paper)","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2021-04-15T20:31:52.400433+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSD17B10 as Green List (high evidence)","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2021-04-15T20:31:52.390492+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b10 has been classified as Green List (High Evidence).","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2021-04-15T20:31:42.435012+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; 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":"HSD17B10","entity_type":"gene"},{"created":"2021-04-15T18:17:17.671291+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EMC10 as ready","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T18:17:17.661055+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emc10 has been classified as Green List (High Evidence).","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T18:17:06.590731+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EMC10 as Green List (high evidence)","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T18:17:06.582118+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emc10 has been classified as Green List (High Evidence).","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T18:16:05.009097+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1057","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EMC10 was added\ngene: EMC10 was added to Genetic Epilepsy. Sources: Literature\nfounder tags were added to gene: EMC10.\nMode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EMC10 were set to 32869858; 33531666\nPhenotypes for gene: EMC10 were set to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264\nReview for gene: EMC10 was set to GREEN\nAdded comment: Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.\r\n\r\nPMID 32869858 : One Saudi family with 2 affected individuals with mild ID, speech delay, and GDD. WES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients. \r\n\r\nPMID 33531666: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family). \nSources: Literature","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:45:38.420688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7201","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EMC10 were changed from Intellectual disability to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:45:15.675964+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7200","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EMC10 as Green List (high evidence)","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:45:15.666238+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emc10 has been classified as Green List (High Evidence).","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:44:54.794724+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7199","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: EMC10.","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:44:39.260986+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3684","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: EMC10.","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:44:32.177937+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7199","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EMC10: Added comment: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).; Changed rating: GREEN; Changed publications: 32869858, 33531666; Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:42:46.387368+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3684","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EMC10 were changed from Developmental delay and intellectual disability, no OMIM# to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:41:51.489178+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3683","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EMC10 as ready","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:41:51.477559+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3683","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emc10 has been classified as Green List (High Evidence).","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:40:42.958507+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3683","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EMC10 were set to PMID: 32869858","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:39:48.165309+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3682","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EMC10 as Green List (high evidence)","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:39:48.156022+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3682","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emc10 has been classified as Green List (High Evidence).","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:39:15.142178+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3681","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect.; to: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:38:52.979983+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3681","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: None; Publications: 33531666; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EMC10","entity_type":"gene"},{"created":"2021-04-15T17:15:32.953744+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7199","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGB3 as ready","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-04-15T17:15:32.942259+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7199","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgb3 has been classified as Green List (High Evidence).","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-04-15T17:15:24.979379+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7199","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITGB3 were changed from  to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-04-15T17:15:07.280410+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7198","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITGB3 were set to ","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-04-15T17:12:36.122391+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7197","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITGB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-04-15T17:12:18.299164+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7196","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18065693, 19336737, 20081061, 23253071; Phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-04-15T17:11:57.563036+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGB3 as ready","entity_name":"ITGB3","entity_type":"gene"}]}