{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1629","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1627","results":[{"created":"2020-08-29T18:23:11.239718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4020","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCB11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCB11","entity_type":"gene"},{"created":"2020-08-29T18:22:54.730618+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4019","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 16871584, 23141890, 9806540, 15300568, 11172067; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCB11","entity_type":"gene"},{"created":"2020-08-29T18:18:58.886631+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4019","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCB1 as ready","entity_name":"ABCB1","entity_type":"gene"},{"created":"2020-08-29T18:18:58.875825+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4019","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcb1 has been classified as Red List (Low Evidence).","entity_name":"ABCB1","entity_type":"gene"},{"created":"2020-08-29T18:18:51.134810+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4019","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCB1 were changed from  to {Inflammatory bowel disease 13} 612244","entity_name":"ABCB1","entity_type":"gene"},{"created":"2020-08-29T18:18:30.529106+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4018","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCB1 were set to ","entity_name":"ABCB1","entity_type":"gene"},{"created":"2020-08-29T18:18:13.331487+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4017","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ABCB1","entity_type":"gene"},{"created":"2020-08-29T18:17:54.505267+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4016","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCB1 as Red List (low evidence)","entity_name":"ABCB1","entity_type":"gene"},{"created":"2020-08-29T18:17:54.494058+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4016","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcb1 has been classified as Red List (Low Evidence).","entity_name":"ABCB1","entity_type":"gene"},{"created":"2020-08-29T18:17:38.256780+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4015","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCB1: Rating: RED; Mode of pathogenicity: None; Publications: 14610718; Phenotypes: {Inflammatory bowel disease 13} 612244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ABCB1","entity_type":"gene"},{"created":"2020-08-29T18:08:59.323165+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4015","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: AASS.","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T18:08:42.659727+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2902","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: AASS.","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T18:08:33.833783+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2902","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AASS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T18:08:26.911566+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCA3 as ready","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:08:26.903516+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abca3 has been classified as Green List (High Evidence).","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:08:08.316902+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2901","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AASS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T18:08:06.442688+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCA3 were changed from  to Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:07:37.427332+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4015","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCA3 as ready","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:07:37.417189+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4015","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abca3 has been classified as Green List (High Evidence).","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:07:35.453584+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCA3 were set to ","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:07:26.045871+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4015","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCA3 were changed from  to Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:07:03.472621+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4014","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCA3 were set to ","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:06:55.662251+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:06:29.469921+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15044640; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:05:58.944752+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4013","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:05:26.146116+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4012","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15044640; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA3","entity_type":"gene"},{"created":"2020-08-29T18:03:47.612767+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA12","entity_type":"gene"},{"created":"2020-08-29T18:03:25.542852+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4012","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCA12 as ready","entity_name":"ABCA12","entity_type":"gene"},{"created":"2020-08-29T18:03:25.531082+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4012","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abca12 has been classified as Green List (High Evidence).","entity_name":"ABCA12","entity_type":"gene"},{"created":"2020-08-29T18:03:19.654866+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4012","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCA12 were changed from  to Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)","entity_name":"ABCA12","entity_type":"gene"},{"created":"2020-08-29T18:03:05.392758+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4011","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCA12 were set to ","entity_name":"ABCA12","entity_type":"gene"},{"created":"2020-08-29T18:02:49.440856+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4010","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA12","entity_type":"gene"},{"created":"2020-08-29T18:02:32.291938+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4009","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31168818, 19664001, 31489029; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA12","entity_type":"gene"},{"created":"2020-08-29T17:59:15.751383+10:00","panel_name":"Hyperlipidaemia","panel_id":332,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCA1 as ready","entity_name":"ABCA1","entity_type":"gene"},{"created":"2020-08-29T17:59:15.741433+10:00","panel_name":"Hyperlipidaemia","panel_id":332,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abca1 has been classified as Green List (High Evidence).","entity_name":"ABCA1","entity_type":"gene"},{"created":"2020-08-29T17:59:09.152250+10:00","panel_name":"Hyperlipidaemia","panel_id":332,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCA1 were changed from Tangier disease, ABCA1 deficiency, HDL deficiency, Familial hypoalphalipoproteinemia to Tangier disease, MIM# 205400; HDL deficiency, familial, 1, MIM# 604091","entity_name":"ABCA1","entity_type":"gene"},{"created":"2020-08-29T17:58:50.970170+10:00","panel_name":"Hyperlipidaemia","panel_id":332,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCA1 were set to ","entity_name":"ABCA1","entity_type":"gene"},{"created":"2020-08-29T17:58:39.785561+10:00","panel_name":"Hyperlipidaemia","panel_id":332,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431237, 10431236; Phenotypes: Tangier disease, MIM# 205400, HDL deficiency, familial, 1, MIM# 604091; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCA1","entity_type":"gene"},{"created":"2020-08-29T17:58:35.766984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4009","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCA1 were changed from  to Tangier disease, MIM# 205400; HDL deficiency, familial, 1, MIM# 604091","entity_name":"ABCA1","entity_type":"gene"},{"created":"2020-08-29T17:58:20.420569+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4008","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCA1 were set to ","entity_name":"ABCA1","entity_type":"gene"},{"created":"2020-08-29T17:57:52.971163+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4007","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCA1","entity_type":"gene"},{"created":"2020-08-29T17:57:36.889315+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4006","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431237, 10431236; Phenotypes: Tangier disease, MIM# 205400, HDL deficiency, familial, 1, MIM# 604091; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCA1","entity_type":"gene"},{"created":"2020-08-29T17:53:49.011254+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2900","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AASS were changed from  to Hyperlysinemia, MIM# 238700","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:53:18.614528+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4006","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AASS as ready","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:53:18.605752+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aass has been classified as Amber List (Moderate Evidence).","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:53:15.682408+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2899","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AASS were set to ","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:52:50.574506+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2898","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AASS as Amber List (moderate evidence)","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:52:50.566691+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2898","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aass has been classified as Amber List (Moderate Evidence).","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:52:30.655767+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4006","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AASS were changed from  to Hyperlysinemia, MIM# 238700","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:52:16.178100+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2897","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: None; Publications: 23570448; Phenotypes: Hyperlysinemia, MIM# 238700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:52:05.674339+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4005","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AASS were set to ","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:51:35.916293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4004","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AASS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:51:09.718297+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4003","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AASS as Amber List (moderate evidence)","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:51:09.708765+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4003","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aass has been classified as Amber List (Moderate Evidence).","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:50:39.721646+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4002","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. Hyperlysinemia is generally considered to be a benign metabolic variant rather than a disease entity.; to: Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity.","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:50:10.010074+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4002","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AASS: Changed rating: AMBER","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T17:49:43.937949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4002","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AASS: Rating: RED; Mode of pathogenicity: None; Publications: 23570448; Phenotypes: Hyperlysinemia, MIM# 238700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AASS","entity_type":"gene"},{"created":"2020-08-29T16:21:36.352909+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AARS2 as ready","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T16:21:36.342324+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aars2 has been classified as Red List (Low Evidence).","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T16:21:33.863507+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AARS2 were changed from  to Combined oxidative phosphorylation deficiency 8 MIM#614096; Leukoencephalopathy, progressive, with ovarian failure MIM#615889; MONDO:0013570","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T16:21:09.453119+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AARS2 were set to ","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T16:20:53.211816+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T16:20:28.106251+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AARS2 as Red List (low evidence)","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T16:20:28.097956+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aars2 has been classified as Red List (Low Evidence).","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T16:20:05.034845+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AARS2: Rating: RED; Mode of pathogenicity: None; Publications: 30706699, 27839525, 21549344, 25058219, 24808023; Phenotypes: Combined oxidative phosphorylation deficiency 8 MIM#614096, Leukoencephalopathy, progressive, with ovarian failure MIM#615889, MONDO:0013570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:04:44.870634+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AARS2 as ready","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:04:44.857449+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aars2 has been classified as Green List (High Evidence).","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:04:42.695445+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AARS2 were changed from  to Leukoencephalopathy, progressive, with ovarian failure MIM#615889","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:04:20.851994+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AARS2 were set to ","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:03:58.298822+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:03:29.769153+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AARS2: Changed phenotypes: Leukoencephalopathy, progressive, with ovarian failure MIM#615889","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:03:20.456645+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30706699, 27839525, 21549344, 25058219, 24808023; Phenotypes: Leukoencephalopathy, progressive, with ovarian failure MIM#615889, MONDO:0013570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:02:36.927871+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AARS2 were changed from  to Combined oxidative phosphorylation deficiency 8 MIM#614096; Leukoencephalopathy, progressive, with ovarian failure MIM#615889; MONDO:0013570","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:02:15.684586+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AARS2 were set to ","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:01:41.758971+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T15:01:11.151945+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.468","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30706699, 27839525, 21549344, 25058219, 24808023; Phenotypes: Combined oxidative phosphorylation deficiency 8 MIM#614096, Leukoencephalopathy, progressive, with ovarian failure MIM#615889, MONDO:0013570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T14:57:47.772179+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4002","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AARS2 as ready","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T14:57:47.762580+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4002","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aars2 has been classified as Green List (High Evidence).","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T14:57:40.791344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4002","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AARS2 were changed from  to Combined oxidative phosphorylation deficiency 8 MIM#614096; Leukoencephalopathy, progressive, with ovarian failure MIM#615889; MONDO:0013570","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T14:57:25.285999+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4001","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AARS2 were set to ","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T14:57:04.244068+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4000","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T14:56:47.316481+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3999","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AARS2: Changed phenotypes: Combined oxidative phosphorylation deficiency 8 MIM#614096, Leukoencephalopathy, progressive, with ovarian failure MIM#615889, MONDO:0013570","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T14:55:41.858706+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3999","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30706699, 27839525, 21549344, 25058219, 24808023; Phenotypes: Combined oxidative phosphorylation deficiency 8 MIM#614096, Leukoencephalopathy, progressive, with ovarian failure MIM#615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-08-29T14:49:34.125847+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3999","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AARS as ready","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:49:34.117943+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3999","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aars has been classified as Green List (High Evidence).","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:49:28.281544+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3999","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AARS were changed from  to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:49:14.092413+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3998","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AARS were set to ","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:48:58.659096+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3997","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AARS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:48:42.194015+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3996","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28493438, 25817015, 20045102, 22009580, 22206013, 30373780, 26032230; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339, Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:43:56.760383+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AARS as ready","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:43:56.750754+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aars has been classified as Green List (High Evidence).","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:43:50.913766+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AARS as Green List (high evidence)","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:43:50.904100+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aars has been classified as Green List (High Evidence).","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:43:25.639979+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AARS was added\ngene: AARS was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AARS were set to 28493438; 25817015\nPhenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29, MIM# 616339\nReview for gene: AARS was set to GREEN\nAdded comment: Bi-allelic variants associated with a severe phenotype comprising leukodystrophy, epilepsy, microcephaly and neurodevelopmental delay reported in three families. \nSources: Expert Review","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:43:16.735478+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2897","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AARS as ready","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:43:16.726622+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2897","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aars has been classified as Green List (High Evidence).","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:43:12.250180+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2897","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AARS were changed from  to Epileptic encephalopathy, early infantile, 29, MIM# 616339","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:42:12.306533+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2896","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AARS were set to ","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:41:58.526622+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2896","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AARS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:41:36.480597+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2895","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS","entity_type":"gene"}]}