{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1432","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1430","results":[{"created":"2021-01-31T17:06:39.448785+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6142","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BLOC1S5: Changed phenotypes: Hermansky–Pudlak syndrome 11, MIM#619172","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2021-01-31T17:06:20.038617+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome type 11, no OMIM# to Hermansky–Pudlak syndrome type 11, MIM#619172","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2021-01-31T17:05:40.681370+11:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome type 11, no OMIM# to Hermansky–Pudlak syndrome type 11, 619172","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2021-01-31T17:02:49.723031+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFC2 as ready","entity_name":"NDUFC2","entity_type":"gene"},{"created":"2021-01-31T17:02:49.715510+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufc2 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFC2","entity_type":"gene"},{"created":"2021-01-31T17:02:41.318549+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6142","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFC2 as Amber List (moderate evidence)","entity_name":"NDUFC2","entity_type":"gene"},{"created":"2021-01-31T17:02:41.307877+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufc2 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFC2","entity_type":"gene"},{"created":"2021-01-31T17:02:23.551099+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6141","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFC2 was added\ngene: NDUFC2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFC2 were set to 32969598\nPhenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170\nReview for gene: NDUFC2 was set to AMBER\nAdded comment: Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome. Two unrelated families reported, some functional data. \nSources: Expert list","entity_name":"NDUFC2","entity_type":"gene"},{"created":"2021-01-31T17:01:37.409626+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFC2 as ready","entity_name":"NDUFC2","entity_type":"gene"},{"created":"2021-01-31T17:01:37.401222+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufc2 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFC2","entity_type":"gene"},{"created":"2021-01-31T17:01:33.109212+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFC2 as Amber List (moderate evidence)","entity_name":"NDUFC2","entity_type":"gene"},{"created":"2021-01-31T17:01:33.101927+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufc2 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFC2","entity_type":"gene"},{"created":"2021-01-31T17:00:28.728716+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFC2 was added\ngene: NDUFC2 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFC2 were set to 32969598\nPhenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, MIM#\t619170\nReview for gene: NDUFC2 was set to AMBER\nAdded comment: Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome.\r\n\r\nTwo unrelated families reported, some functional data. \nSources: Expert list","entity_name":"NDUFC2","entity_type":"gene"},{"created":"2021-01-30T10:58:32.752703+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UGT1A1 as ready","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2021-01-30T10:58:32.742842+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugt1a1 has been classified as Green List (High Evidence).","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2021-01-30T10:58:29.400194+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UGT1A1 as Green List (high evidence)","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2021-01-30T10:58:29.389590+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugt1a1 has been classified as Green List (High Evidence).","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2021-01-30T10:58:20.314480+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UGT1A1 was added\ngene: UGT1A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A1 were set to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I 218800; Crigler-Najjar syndrome, type II 606785\nReview for gene: UGT1A1 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert Review","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2021-01-30T10:56:15.283357+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCD4 as ready","entity_name":"ABCD4","entity_type":"gene"},{"created":"2021-01-30T10:56:15.271118+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcd4 has been classified as Green List (High Evidence).","entity_name":"ABCD4","entity_type":"gene"},{"created":"2021-01-30T10:48:46.242841+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UMPS as ready","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-01-30T10:48:46.232621+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.67","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":"2021-01-30T10:48:37.777227+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UMPS as Green List (high evidence)","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-01-30T10:48:37.769596+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.67","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":"2021-01-30T10:48:28.212138+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UMPS was added\ngene: UMPS was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UMPS were set to Orotic aciduria, MIM#\t258900\nReview for gene: UMPS was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert Review","entity_name":"UMPS","entity_type":"gene"},{"created":"2021-01-30T10:47:14.678038+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3414","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UPB1 as ready","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:47:14.666047+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: upb1 has been classified as Green List (High Evidence).","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:47:10.062632+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3414","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UPB1 were changed from  to Beta-ureidopropionase deficiency, OMIM #613161","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:46:33.116323+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3413","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UPB1 were set to ","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:46:05.076481+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3412","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UPB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:45:30.960641+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3411","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UPB1 as Green List (high evidence)","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:45:30.953468+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3411","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: upb1 has been classified as Green List (High Evidence).","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:44:58.484932+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3410","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:43:27.744740+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UPB1 as ready","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:43:27.734436+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: upb1 has been classified as Green List (High Evidence).","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:43:20.474470+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UPB1 were changed from  to Beta-ureidopropionase deficiency, MIM# 613161","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:43:03.212252+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6139","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UPB1 were set to ","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:42:41.684313+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6138","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UPB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:42:20.376087+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6137","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:40:58.093827+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UPB1 as ready","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:40:58.085800+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: upb1 has been classified as Green List (High Evidence).","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:40:50.307005+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UPB1 as Green List (high evidence)","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:40:50.296481+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: upb1 has been classified as Green List (High Evidence).","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:40:40.596297+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UPB1 was added\ngene: UPB1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UPB1 were set to 27604308; 24526388; 25638458; 22525402; 15385443; 17964839\nPhenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, MIM#\t613161\nReview for gene: UPB1 was set to GREEN\nAdded comment: Disorder of pyrimidine metabolism.\r\n\r\nPhenotype can range from severe neurologic involvement with ID and seizures to normal neurologic development, likely related to amount of residual enzyme activity. \nSources: Expert list","entity_name":"UPB1","entity_type":"gene"},{"created":"2021-01-30T10:35:56.679759+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3410","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UROC1 as ready","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:35:56.667020+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3410","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uroc1 has been classified as Red List (Low Evidence).","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:35:52.685554+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3410","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UROC1 were changed from  to Urocanase deficiency, MIM#276880","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:35:18.607560+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3409","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UROC1 were set to ","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:34:42.458579+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3408","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UROC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:34:11.983291+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3407","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UROC1 as Red List (low evidence)","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:34:11.973057+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3407","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uroc1 has been classified as Red List (Low Evidence).","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:33:39.213648+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3406","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UROC1: Rating: RED; Mode of pathogenicity: None; Publications: 19304569, 30619714; Phenotypes: Urocanase deficiency, MIM#276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:32:58.696836+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6137","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UROC1 as ready","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:32:58.689504+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uroc1 has been classified as Amber List (Moderate Evidence).","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:32:51.477451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6137","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UROC1 were changed from  to Urocanase deficiency, MIM#276880","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:32:33.545317+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6136","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UROC1 were set to ","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:32:14.864778+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6135","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UROC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:31:56.602196+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6134","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UROC1 as Amber List (moderate evidence)","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:31:56.590674+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uroc1 has been classified as Amber List (Moderate Evidence).","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:31:38.340675+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6133","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19304569, 30619714; Phenotypes: Urocanase deficiency, MIM#276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:30:14.200847+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UROC1 as ready","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:30:14.189805+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uroc1 has been classified as Amber List (Moderate Evidence).","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:30:11.191957+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UROC1 were set to 19304569 30619714","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:29:59.487693+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UROC1 as Amber List (moderate evidence)","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:29:59.480059+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uroc1 has been classified as Amber List (Moderate Evidence).","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T10:29:49.658564+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UROC1 was added\ngene: UROC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UROC1 were set to 19304569 30619714\nPhenotypes for gene: UROC1 were set to Urocanase deficiency, MIM#276880\nReview for gene: UROC1 was set to AMBER\nAdded comment: Three individuals from two families, one presenting with ID/ataxia, and the sibs from the second family following a normal clinical course despite distinctive biochemical abnormalities. \nSources: Expert list","entity_name":"UROC1","entity_type":"gene"},{"created":"2021-01-30T08:11:51.055321+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VIPAS39 as ready","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2021-01-30T08:11:51.038464+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vipas39 has been classified as Green List (High Evidence).","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2021-01-30T08:11:46.596039+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VIPAS39 as Green List (high evidence)","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2021-01-30T08:11:46.585745+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vipas39 has been classified as Green List (High Evidence).","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2021-01-30T08:11:12.402938+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VIPAS39 was added\ngene: VIPAS39 was added to Lysosomal Storage Disorder. Sources: Expert list\nMode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VIPAS39 were set to 22753090; 26808426\nPhenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#\t613404\nReview for gene: VIPAS39 was set to GREEN\nAdded comment: VIPAR is involved in intracellular sorting and trafficking of lysosomal proteins.\r\n\r\nMore than 5 unrelated families reported. \nSources: Expert list","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2021-01-30T08:06:16.277090+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS33B as ready","entity_name":"VPS33B","entity_type":"gene"},{"created":"2021-01-30T08:06:16.266438+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps33b has been classified as Green List (High Evidence).","entity_name":"VPS33B","entity_type":"gene"},{"created":"2021-01-30T08:06:12.100434+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS33B as Green List (high evidence)","entity_name":"VPS33B","entity_type":"gene"},{"created":"2021-01-30T08:06:12.093233+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps33b has been classified as Green List (High Evidence).","entity_name":"VPS33B","entity_type":"gene"},{"created":"2021-01-30T08:05:41.480194+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS33B was added\ngene: VPS33B was added to Lysosomal Storage Disorder. Sources: Expert list\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS33B were set to 16896922\nPhenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM#\t208085\nReview for gene: VPS33B was set to GREEN\nAdded comment: VPS proteins are involved in Golgi-to-lysosome trafficking.\r\n\r\nMore than 20 unrelated families reported. \nSources: Expert list","entity_name":"VPS33B","entity_type":"gene"},{"created":"2021-01-30T08:01:49.023729+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR45 as ready","entity_name":"WDR45","entity_type":"gene"},{"created":"2021-01-30T08:01:49.013464+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr45 has been classified as Green List (High Evidence).","entity_name":"WDR45","entity_type":"gene"},{"created":"2021-01-30T08:01:44.918586+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR45 as Green List (high evidence)","entity_name":"WDR45","entity_type":"gene"},{"created":"2021-01-30T08:01:44.908479+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr45 has been classified as Green List (High Evidence).","entity_name":"WDR45","entity_type":"gene"},{"created":"2021-01-30T08:01:35.040468+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR45 was added\ngene: WDR45 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: WDR45 were set to 23176820\nPhenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM#\t300894\nReview for gene: WDR45 was set to GREEN\nAdded comment: The WDR45 gene has an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.\r\n\r\nMore than 20 unrelated individuals reported. XLD. \nSources: Expert list","entity_name":"WDR45","entity_type":"gene"},{"created":"2021-01-29T21:54:56.102045+11:00","panel_name":"Metabolic Disorders Superpanel","panel_id":3465,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"panel","text":"Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Miscellaneous Metabolic Disorders; Glycogen Storage Diseases; Peroxisomal Disorders; Porphyria; Vitamin C Pathway Disorders; Metabolic renal disease; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia","entity_name":null,"entity_type":null},{"created":"2021-01-29T21:54:13.078067+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-01-29T21:50:42.319668+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM70 was added\ngene: TMEM70 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM70 were set to 26550569; 21147908; 24740313\nPhenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2\t614052","entity_name":"TMEM70","entity_type":"gene"},{"created":"2021-01-29T21:50:42.269123+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC7A7 was added\ngene: SLC7A7 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance 222700","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-01-29T21:50:42.216442+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A20 was added\ngene: SLC25A20 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138","entity_name":"SLC25A20","entity_type":"gene"},{"created":"2021-01-29T21:50:42.166240+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A15 was added\ngene: SLC25A15 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2021-01-29T21:50:42.115116+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A13 was added\ngene: SLC25A13 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II 603471","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2021-01-29T21:50:42.064687+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC22A5 was added\ngene: SLC22A5 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to Propionicacidemia\t606054","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-01-29T21:50:42.016124+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SERAC1 was added\ngene: SERAC1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERAC1 were set to 27604308; 28482397; 27186703; 22683713; 28778788; 16527507; 29205472\nPhenotypes for gene: SERAC1 were set to MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Hypoglycemia","entity_name":"SERAC1","entity_type":"gene"},{"created":"2021-01-29T21:50:41.960669+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PYGM was added\ngene: PYGM was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGM were set to McArdle disease 232600","entity_name":"PYGM","entity_type":"gene"},{"created":"2021-01-29T21:50:41.911983+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLG was added\ngene: POLG was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type)\t203700","entity_name":"POLG","entity_type":"gene"},{"created":"2021-01-29T21:50:41.863942+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCCB was added\ngene: PCCB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCB were set to Propionicacidemia 606054","entity_name":"PCCB","entity_type":"gene"},{"created":"2021-01-29T21:50:41.816012+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCCA was added\ngene: PCCA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCA were set to Propionicacidemia 606054","entity_name":"PCCA","entity_type":"gene"},{"created":"2021-01-29T21:50:41.768477+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PC was added\ngene: PC was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PC were set to Pyruvate carboxylase deficiency 266150","entity_name":"PC","entity_type":"gene"},{"created":"2021-01-29T21:50:41.720658+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTC was added\ngene: OTC was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: OTC were set to 2983225\nPhenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250","entity_name":"OTC","entity_type":"gene"},{"created":"2021-01-29T21:50:41.670356+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OAT was added\ngene: OAT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia\t258870","entity_name":"OAT","entity_type":"gene"},{"created":"2021-01-29T21:50:41.617876+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAGS was added\ngene: NAGS was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency\t237310","entity_name":"NAGS","entity_type":"gene"},{"created":"2021-01-29T21:50:41.570259+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUT was added\ngene: MUT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type 251000","entity_name":"MUT","entity_type":"gene"},{"created":"2021-01-29T21:50:41.523105+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMAB was added\ngene: MMAB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110","entity_name":"MMAB","entity_type":"gene"}]}