{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1146","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1144","results":[{"created":"2021-11-04T07:38:54.979743+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALG12: Changed rating: GREEN","entity_name":"ALG12","entity_type":"gene"},{"created":"2021-11-04T07:37:14.838281+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG1 were changed from  to Congenital disorder of glycosylation, type Ik, MIM# 608540","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:36:40.290226+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4242","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG1 were set to ","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:36:11.885105+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4241","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:35:44.903695+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4240","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:34:44.340682+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1374","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG1 as ready","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:34:44.329619+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1374","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg1 has been classified as Green List (High Evidence).","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:34:40.960899+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1374","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG1 were changed from  to Congenital disorder of glycosylation, type Ik, MIM# 608540","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:34:12.237531+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1373","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG1 were set to ","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:33:43.789000+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1372","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:33:05.288548+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1371","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:32:11.889595+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9593","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG1 as ready","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:32:11.879637+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9593","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg1 has been classified as Green List (High Evidence).","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:32:02.293400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9593","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG1 were changed from  to Congenital disorder of glycosylation, type Ik, MIM# 608540","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:31:41.785717+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9592","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG1 were set to ","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:31:24.489289+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9591","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:31:07.259740+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9590","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:29:23.986280+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG1 as ready","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:29:23.974266+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg1 has been classified as Green List (High Evidence).","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:29:20.382709+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG1 were changed from ALG1-CDG to Congenital disorder of glycosylation, type Ik, MIM# 608540","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:29:09.663520+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG1 were set to ","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:28:55.773639+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:23:58.632248+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAR as ready","entity_name":"ADAR","entity_type":"gene"},{"created":"2021-11-04T07:23:58.622949+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adar has been classified as Red List (Low Evidence).","entity_name":"ADAR","entity_type":"gene"},{"created":"2021-11-04T07:23:54.233353+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAR were changed from AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 to Aicardi-Goutieres syndrome 6, MIM# 615010","entity_name":"ADAR","entity_type":"gene"},{"created":"2021-11-04T07:23:38.523339+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAR as Red List (low evidence)","entity_name":"ADAR","entity_type":"gene"},{"created":"2021-11-04T07:23:38.514190+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adar has been classified as Red List (Low Evidence).","entity_name":"ADAR","entity_type":"gene"},{"created":"2021-11-04T07:23:26.889968+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAR","entity_type":"gene"},{"created":"2021-11-04T07:20:56.515981+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDOA as ready","entity_name":"ALDOA","entity_type":"gene"},{"created":"2021-11-04T07:20:56.506073+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldoa has been classified as Red List (Low Evidence).","entity_name":"ALDOA","entity_type":"gene"},{"created":"2021-11-04T07:20:52.792632+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDOA were changed from GLYCOGEN STORAGE DISEASE XII to Glycogen storage disease XII, MIM#611881","entity_name":"ALDOA","entity_type":"gene"},{"created":"2021-11-04T07:20:38.477696+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDOA as Red List (low evidence)","entity_name":"ALDOA","entity_type":"gene"},{"created":"2021-11-04T07:20:38.468352+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldoa has been classified as Red List (Low Evidence).","entity_name":"ALDOA","entity_type":"gene"},{"created":"2021-11-04T07:20:25.689087+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Only some patients have been reported to have developmental delay; some of these reports pre-date molecular characterisation of this disorder and therefore a firm link with ID is difficult to establish.; to: Typically presents with haemolytic anaemia post-natally.","entity_name":"ALDOA","entity_type":"gene"},{"created":"2021-11-04T07:19:44.310939+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALDOA: Changed rating: RED","entity_name":"ALDOA","entity_type":"gene"},{"created":"2021-11-04T07:17:57.771440+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH7A1 as ready","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2021-11-04T07:17:57.761771+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh7a1 has been classified as Red List (Low Evidence).","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2021-11-04T07:17:53.878884+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH7A1 were changed from PYRIDOXINE-DEPENDENT EPILEPSY to Epilepsy, pyridoxine-dependent, MIM# 266100","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2021-11-04T07:17:40.688178+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDH7A1 as Red List (low evidence)","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2021-11-04T07:17:40.677332+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh7a1 has been classified as Red List (Low Evidence).","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2021-11-04T07:17:29.511427+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH7A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2021-11-04T07:14:43.891965+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH1A3 as ready","entity_name":"ALDH1A3","entity_type":"gene"},{"created":"2021-11-04T07:14:43.879962+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh1a3 has been classified as Green List (High Evidence).","entity_name":"ALDH1A3","entity_type":"gene"},{"created":"2021-11-04T07:14:40.277473+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH1A3 were changed from ANOPHTHALMIA/MICROPHTHALMIA to Microphthalmia, isolated 8, MIM# 615113","entity_name":"ALDH1A3","entity_type":"gene"},{"created":"2021-11-04T07:14:25.937636+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH1A3 were set to ","entity_name":"ALDH1A3","entity_type":"gene"},{"created":"2021-11-04T07:13:01.110652+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH3A2 as ready","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2021-11-04T07:13:01.100180+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh3a2 has been classified as Red List (Low Evidence).","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2021-11-04T07:12:57.279012+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH3A2 were changed from SJOEGREN-LARSSON SYNDROME to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2021-11-04T07:12:43.645876+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH3A2 were set to ","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2021-11-04T07:12:30.344166+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDH3A2 as Red List (low evidence)","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2021-11-04T07:12:30.330044+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh3a2 has been classified as Red List (Low Evidence).","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2021-11-04T07:12:11.393677+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ALDH3A2: Presentation is typically post-natal with ichthyosis and developmental delay, no significant association with multiple congenital anomalies.","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2021-11-04T07:11:33.465706+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALDH3A2: Changed rating: RED","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2021-11-04T07:08:33.134112+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMCHD1 as ready","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-11-04T07:08:33.121914+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smchd1 has been classified as Green List (High Evidence).","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-11-04T07:08:29.426757+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMCHD1 were changed from Isolated Arhinia/Bosma Arhinia syndrome to Bosma arhinia microphthalmia syndrome (MIM#603457)","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-11-04T07:08:17.074865+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMCHD1 were set to ","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-11-04T04:19:11.840639+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9590","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: NUP85: Rating: ; Mode of pathogenicity: None; Publications: 34170319; Phenotypes: intellectual disability, Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH–SCKS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUP85","entity_type":"gene"},{"created":"2021-11-04T01:16:54.078923+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9590","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: GNB2: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-11-04T01:14:17.526281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9590","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: GNAQ: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: None","entity_name":"GNAQ","entity_type":"gene"},{"created":"2021-11-03T17:05:16.077756+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9590","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUB as ready","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:05:16.067062+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9590","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tub has been classified as Amber List (Moderate Evidence).","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:05:04.747650+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9590","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUB were changed from  to Retinal dystrophy and obesity, MIM# 616188","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:02:31.888867+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9589","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUB were set to ","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:02:13.269960+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9588","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:01:54.142486+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9587","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUB as Amber List (moderate evidence)","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:01:54.133055+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9587","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tub has been classified as Amber List (Moderate Evidence).","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:01:35.772602+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9586","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: Retinal dystrophy and obesity, MIM# 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:00:37.936024+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUB as ready","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:00:37.926525+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tub has been classified as Amber List (Moderate Evidence).","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:00:25.707832+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUB were changed from  to Retinal dystrophy and obesity, MIM# 616188","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:00:16.643237+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUB were set to ","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:00:06.855274+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUB as Amber List (moderate evidence)","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T17:00:06.831565+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tub has been classified as Amber List (Moderate Evidence).","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T16:59:51.833659+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: Retinal dystrophy and obesity, MIM# 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T16:58:49.553644+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUB as ready","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T16:58:49.537509+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tub has been classified as Amber List (Moderate Evidence).","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T16:58:47.485350+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, OMIM:616188 to Retinal dystrophy and obesity, MIM# 616188","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T16:58:20.284970+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal dystrophy and obesity 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUB","entity_type":"gene"},{"created":"2021-11-03T16:56:04.069376+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SH2B1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-03T16:55:12.557310+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHIP as ready","entity_name":"PHIP","entity_type":"gene"},{"created":"2021-11-03T16:55:12.547790+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phip has been classified as Green List (High Evidence).","entity_name":"PHIP","entity_type":"gene"},{"created":"2021-11-03T16:55:10.607789+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHIP were changed from dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability to Chung-Jansen syndrome 617991","entity_name":"PHIP","entity_type":"gene"},{"created":"2021-11-03T16:54:52.307648+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHIP as Green List (high evidence)","entity_name":"PHIP","entity_type":"gene"},{"created":"2021-11-03T16:54:52.297309+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phip has been classified as Green List (High Evidence).","entity_name":"PHIP","entity_type":"gene"},{"created":"2021-11-03T16:53:18.469978+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder; obesity","entity_name":"PGM2L1","entity_type":"gene"},{"created":"2021-11-03T16:53:07.176491+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM2L1 as ready","entity_name":"PGM2L1","entity_type":"gene"},{"created":"2021-11-03T16:53:07.166153+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm2l1 has been classified as Green List (High Evidence).","entity_name":"PGM2L1","entity_type":"gene"},{"created":"2021-11-03T16:52:58.443431+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PGM2L1 as Green List (high evidence)","entity_name":"PGM2L1","entity_type":"gene"},{"created":"2021-11-03T16:52:58.432587+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm2l1 has been classified as Green List (High Evidence).","entity_name":"PGM2L1","entity_type":"gene"},{"created":"2021-11-03T16:51:41.292887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9586","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KSR2 as ready","entity_name":"KSR2","entity_type":"gene"},{"created":"2021-11-03T16:51:41.278404+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9586","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ksr2 has been classified as Red List (Low Evidence).","entity_name":"KSR2","entity_type":"gene"},{"created":"2021-11-03T16:51:31.322956+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9586","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KSR2 was added\ngene: KSR2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KSR2 was set to Other\nPublications for gene: KSR2 were set to 29273807; 24209692\nPhenotypes for gene: KSR2 were set to Obesity\nReview for gene: KSR2 was set to RED\nAdded comment: PMID: 24209692 Targeted deletion of Ksr2 leads to obesity in mice, suggesting a role in energy homeostasis. PMID: 29273807 GWAS identified KSR2 (13 genes studied) implicated in extreme obesity. \nSources: Expert Review","entity_name":"KSR2","entity_type":"gene"},{"created":"2021-11-03T16:48:59.760736+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KSR2 as ready","entity_name":"KSR2","entity_type":"gene"},{"created":"2021-11-03T16:48:59.750016+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ksr2 has been classified as Red List (Low Evidence).","entity_name":"KSR2","entity_type":"gene"},{"created":"2021-11-03T16:48:53.494095+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KSR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Other","entity_name":"KSR2","entity_type":"gene"},{"created":"2021-11-03T16:48:33.512670+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KSR2 as Red List (low evidence)","entity_name":"KSR2","entity_type":"gene"},{"created":"2021-11-03T16:48:33.502895+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ksr2 has been classified as Red List (Low Evidence).","entity_name":"KSR2","entity_type":"gene"},{"created":"2021-11-03T16:48:02.383692+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP5E as ready","entity_name":"INPP5E","entity_type":"gene"},{"created":"2021-11-03T16:48:02.368856+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp5e has been classified as Amber List (Moderate Evidence).","entity_name":"INPP5E","entity_type":"gene"}]}