{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1474","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1472","results":[{"created":"2020-12-19T14:04:22.172475+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPDU1 were set to ","entity_name":"MPDU1","entity_type":"gene"},{"created":"2020-12-19T14:03:54.024942+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPDU1","entity_type":"gene"},{"created":"2020-12-19T14:03:19.429714+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPDU1","entity_type":"gene"},{"created":"2020-12-19T13:57:10.520319+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPAGT1 as ready","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:57:10.509727+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpagt1 has been classified as Green List (High Evidence).","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:57:04.392046+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPAGT1 as Green List (high evidence)","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:57:04.383990+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpagt1 has been classified as Green List (High Evidence).","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:56:22.964931+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DPAGT1 was added\ngene: DPAGT1 was added to Cataract. Sources: Expert Review\nMode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111\nPhenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964\nReview for gene: DPAGT1 was set to GREEN\nAdded comment: Cataracts reported in more than 3 unrelated families with this Type I CDG. Other common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. Overall, more than 20 unrelated families reported. \nSources: Expert Review","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:53:59.436086+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DP, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750AGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:51:58.390076+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3287","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPAGT1 as ready","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:51:58.381563+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpagt1 has been classified as Green List (High Evidence).","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:51:54.408770+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3287","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPAGT1 were changed from  to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:51:23.920872+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3286","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPAGT1 were set to ","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:50:52.678844+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3285","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:50:18.631007+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3284","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:49:34.685977+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.960","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPAGT1 as ready","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:49:34.672675+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.960","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpagt1 has been classified as Green List (High Evidence).","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:49:24.244937+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.960","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPAGT1 were changed from  to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:48:56.229816+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.959","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPAGT1 were set to ","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:48:27.091061+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.958","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:47:55.163458+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.957","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:46:55.699309+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5687","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPAGT1 as ready","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:46:55.683720+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5687","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpagt1 has been classified as Green List (High Evidence).","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:46:48.036084+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5687","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPAGT1 were changed from  to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:46:29.147225+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5686","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPAGT1 were set to ","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:46:04.046987+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5685","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:45:36.348999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5684","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.\r\n\r\nMyasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.\r\n\r\nMyasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder. More than 5 unrelated families reported with this presentation.","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:45:18.158815+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5684","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DPAGT1: Changed publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111, 22742743, 29356258, 28712839, 28662078","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:44:26.473373+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5684","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:43:40.361944+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPAGT1 as ready","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:43:40.354032+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpagt1 has been classified as Green List (High Evidence).","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:43:13.435905+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPAGT1 were changed from  to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:42:46.302035+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPAGT1 were set to ","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:42:12.334006+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.\r\n\r\nMyasthenic syndrome, congenital, 13, with tubular aggregates, MIM\t614750 is a milder allelic disorder","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:41:48.609077+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:41:16.537925+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-12-19T13:35:35.231487+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOLK were set to 17273964; 22242004; 23890587","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:35:21.048667+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:34:37.569091+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOLK as ready","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:34:37.560293+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dolk has been classified as Green List (High Evidence).","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:34:34.582352+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im 610768; syndromic DCM; Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:34:00.814390+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOLK as ready","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:34:00.803707+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dolk has been classified as Green List (High Evidence).","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:33:56.906652+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOLK were changed from  to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:33:29.822922+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOLK were set to ","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:33:01.774065+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:30:47.795274+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:21:31.444522+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOLK as ready","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:21:31.432615+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dolk has been classified as Green List (High Evidence).","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:21:09.739383+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:20:52.082520+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOLK were set to ","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:20:36.735081+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DOLK as Green List (high evidence)","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:20:36.724574+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dolk has been classified as Green List (High Evidence).","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:20:21.238994+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:19:31.855922+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOLK as ready","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:19:31.844887+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dolk has been classified as Green List (High Evidence).","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:19:19.980818+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOLK were changed from  to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:18:40.817199+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3283","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOLK were set to ","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:17:52.310384+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3282","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:16:56.163583+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3281","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:15:47.778994+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5684","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOLK as ready","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:15:47.768533+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5684","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dolk has been classified as Green List (High Evidence).","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:15:28.282671+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5684","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOLK were changed from  to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:14:54.227119+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5683","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOLK were set to ","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:14:38.281799+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOLK as ready","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:14:38.273571+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dolk has been classified as Green List (High Evidence).","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:14:30.302634+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOLK were changed from  to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:14:23.802997+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5682","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:13:46.607684+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5681","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:13:45.846771+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOLK were set to ","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:12:29.187824+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DOLK: Changed phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:11:58.290822+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DOLK: Changed phenotypes: DK1-CDG, MONDO:0012556","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:09:49.905898+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-19T13:09:11.851463+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-12-18T19:02:52.110337+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG7 as ready","entity_name":"COG7","entity_type":"gene"},{"created":"2020-12-18T19:02:52.102694+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog7 has been classified as Green List (High Evidence).","entity_name":"COG7","entity_type":"gene"},{"created":"2020-12-18T19:02:49.509832+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COG7 were changed from  to Congenital disorder of glycosylation, type IIe , MIM#608779","entity_name":"COG7","entity_type":"gene"},{"created":"2020-12-18T19:02:21.259341+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COG7 were set to ","entity_name":"COG7","entity_type":"gene"},{"created":"2020-12-18T19:01:51.316391+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COG7","entity_type":"gene"},{"created":"2020-12-18T19:01:20.847030+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15107842, 17356545, 28883096; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COG7","entity_type":"gene"},{"created":"2020-12-18T18:56:39.802479+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG1 as ready","entity_name":"COG1","entity_type":"gene"},{"created":"2020-12-18T18:56:39.794921+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog1 has been classified as Green List (High Evidence).","entity_name":"COG1","entity_type":"gene"},{"created":"2020-12-18T18:56:37.329649+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COG1 were changed from  to Congenital disorder of glycosylation, type IIg, MIM# 611209","entity_name":"COG1","entity_type":"gene"},{"created":"2020-12-18T18:55:58.521154+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COG1 were set to ","entity_name":"COG1","entity_type":"gene"},{"created":"2020-12-18T18:55:28.387177+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COG1","entity_type":"gene"},{"created":"2020-12-18T18:54:59.426995+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16537452, 19008299, 17904886, 11980916; Phenotypes: Congenital disorder of glycosylation, type IIg, MIM# 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COG1","entity_type":"gene"},{"created":"2020-12-18T18:34:39.303856+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHST3 as ready","entity_name":"CHST3","entity_type":"gene"},{"created":"2020-12-18T18:34:39.291792+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chst3 has been classified as Green List (High Evidence).","entity_name":"CHST3","entity_type":"gene"},{"created":"2020-12-18T18:34:36.604350+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHST3 were changed from  to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095","entity_name":"CHST3","entity_type":"gene"},{"created":"2020-12-18T18:34:08.901660+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHST3 were set to ","entity_name":"CHST3","entity_type":"gene"},{"created":"2020-12-18T18:33:41.959801+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHST3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHST3","entity_type":"gene"},{"created":"2020-12-18T18:33:11.336458+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHST3","entity_type":"gene"},{"created":"2020-12-18T18:26:07.016713+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHST14 as ready","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-12-18T18:26:07.005186+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chst14 has been classified as Green List (High Evidence).","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-12-18T18:26:04.170713+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHST14 were changed from  to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-12-18T18:25:35.868631+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHST14 were set to ","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-12-18T18:25:09.639377+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-12-18T18:24:39.054146+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-12-18T18:20:58.650246+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5681","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC2A1 as ready","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2020-12-18T18:20:58.640214+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5681","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc2a1 has been classified as Green List (High Evidence).","entity_name":"SLC2A1","entity_type":"gene"}]}