{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1153","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1151","results":[{"created":"2021-10-29T07:45:57.610139+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADGRG6 were changed from LETHAL CONGENITAL CONTRACTURE SYNDROME 9 to Lethal congenital contracture syndrome 9; OMIM #616503","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2021-10-29T07:45:43.932609+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADGRG6 were set to ","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2021-10-29T07:45:23.558624+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three other families reported but with severe prenatal onset arthrogryposis, unclear if CNS features.; to: Three other families reported but with severe prenatal onset arthrogryposis.","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2021-10-29T07:45:05.064682+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADGRG6: Changed rating: GREEN","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2021-10-29T07:44:30.036435+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADGRG1 as ready","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2021-10-29T07:44:30.022735+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg1 has been classified as Green List (High Evidence).","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2021-10-29T07:44:23.802488+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: ADGRG1.\nTag 5'UTR tag was added to gene: ADGRG1.","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2021-10-29T07:44:09.729480+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADGRG1 were set to 16240336; 33299078","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2021-10-29T07:43:42.967121+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADGRG1 were changed from POLYMICROGYRIA to Polymicrogyria, bilateral frontoparietal, MIM#606854","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2021-10-29T07:43:30.430825+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADGRG1 were set to ","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2021-10-29T07:34:22.683801+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTSL2 as ready","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2021-10-29T07:34:22.673981+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamtsl2 has been classified as Green List (High Evidence).","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2021-10-29T07:34:16.422356+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 231050 to Geleophysic dysplasia 1, MIM#231050","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2021-10-29T07:34:03.954253+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADAMTSL2 were set to ","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2021-10-29T07:33:49.082965+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADAMTSL2: Changed publications: 21415077","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2021-10-29T07:33:29.119302+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; however, theres is little evidence of intellectual disability in this disorder.; to: Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; perinatal presentation with skeletal and heart features reported. Multiple families reported.","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2021-10-29T07:32:27.892654+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADAMTSL2: Changed rating: GREEN","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2021-10-29T07:31:14.970460+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS17 as ready","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-29T07:31:14.958056+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts17 has been classified as Green List (High Evidence).","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-29T07:31:10.323773+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAMTS17 as Green List (high evidence)","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-29T07:31:10.313765+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts17 has been classified as Green List (High Evidence).","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-29T07:30:46.446785+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTS17 was added\ngene: ADAMTS17 was added to Cataract. Sources: Expert Review\nMode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034\nPhenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195\nReview for gene: ADAMTS17 was set to GREEN\nAdded comment: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present. At least 3 unrelated families reported. \nSources: Expert Review","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-28T19:30:07.007143+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9522","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS17 as ready","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-28T19:30:06.991926+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9522","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts17 has been classified as Green List (High Evidence).","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-28T19:29:57.031662+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9522","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS17 were changed from  to Weill-Marchesani 4 syndrome, recessive, MIM# 613195","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-28T19:29:39.073729+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9521","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADAMTS17 were set to ","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-28T19:29:19.172794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9520","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADAMTS17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-28T19:29:01.766731+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9519","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19836009, 22486325, 24940034, 30712880; Phenotypes: Weill-Marchesani 4 syndrome, recessive, MIM# 613195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-28T19:27:53.031832+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS17 as ready","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-28T19:27:53.021280+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts17 has been classified as Green List (High Evidence).","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-28T19:27:40.964168+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19836009, 22486325, 24940034; Phenotypes: Weill-Marchesani 4 syndrome, recessive, MIM# 613195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2021-10-28T19:25:46.138441+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS10 as ready","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2021-10-28T19:25:46.128961+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts10 has been classified as Green List (High Evidence).","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2021-10-28T19:25:42.660560+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS10 were changed from Weill-Marchesani syndrome 1, recessive 277600 to Weill-Marchesani syndrome 1, recessive, MIM#277600","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2021-10-28T19:25:31.822645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADAMTS10 were set to ","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2021-10-28T19:25:18.736806+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Mild intellectual disability is described in around 10% of affected individuals.; to: Associated with congenital anomalies.","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2021-10-28T19:24:13.770579+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4226","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACY1 as ready","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:24:13.760987+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acy1 has been classified as Green List (High Evidence).","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:24:06.798991+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4226","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACY1 were changed from  to Aminoacylase 1 deficiency, MIM# 609924","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:23:35.093118+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4225","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACY1 were set to ","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:23:09.157837+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4224","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:22:42.228402+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4223","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16274666, 16465618, 17562838, 24117009; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:22:05.973206+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACY1 was added\ngene: ACY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACY1 were set to 16274666; 16465618; 17562838; 24117009\nPhenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency, MIM# 609924\nReview for gene: ACY1 was set to GREEN\nAdded comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features. \nSources: Expert Review","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:20:54.918331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9519","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACY1 as ready","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:20:54.908682+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9519","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acy1 has been classified as Green List (High Evidence).","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:20:47.156637+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9519","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACY1 were changed from  to Aminoacylase 1 deficiency, MIM# 609924","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:20:28.704898+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9518","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACY1 were set to ","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:20:02.930602+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9517","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:19:45.686397+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9516","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16274666, 16465618, 17562838, 24117009; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:18:15.138979+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACY1 as ready","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:18:15.120789+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acy1 has been classified as Green List (High Evidence).","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:18:11.659912+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACY1 were changed from AMINOACYLASE-1 DEFICIENCY to Aminoacylase 1 deficiency, MIM# 609924","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:17:57.201196+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACY1","entity_type":"gene"},{"created":"2021-10-28T19:17:00.697483+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACVR2B as ready","entity_name":"ACVR2B","entity_type":"gene"},{"created":"2021-10-28T19:17:00.686922+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvr2b has been classified as Red List (Low Evidence).","entity_name":"ACVR2B","entity_type":"gene"},{"created":"2021-10-28T19:16:57.076499+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACVR2B were changed from Heterotaxy; Dextrocardia; polysplenia; Gut malrotation; Double outlet right ventricle; Transposition of the great arteries; asplenia; right-sided spleen to Heterotaxy, visceral, 4, autosomal 613751","entity_name":"ACVR2B","entity_type":"gene"},{"created":"2021-10-28T19:16:44.264458+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489","entity_name":"ACVR2B","entity_type":"gene"},{"created":"2021-10-28T19:15:41.709935+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACVR2B as Red List (low evidence)","entity_name":"ACVR2B","entity_type":"gene"},{"created":"2021-10-28T19:15:41.698294+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvr2b has been classified as Red List (Low Evidence).","entity_name":"ACVR2B","entity_type":"gene"},{"created":"2021-10-28T19:10:01.837007+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTG2 as ready","entity_name":"ACTG2","entity_type":"gene"},{"created":"2021-10-28T19:10:01.825360+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actg2 has been classified as Green List (High Evidence).","entity_name":"ACTG2","entity_type":"gene"},{"created":"2021-10-28T19:09:57.780490+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTG2 were changed from Fetal Megacystis; Visceral myopathy 155310 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431","entity_name":"ACTG2","entity_type":"gene"},{"created":"2021-10-28T19:09:41.314464+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG2","entity_type":"gene"},{"created":"2021-10-28T19:09:29.334731+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24676022, 26647307; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG2","entity_type":"gene"},{"created":"2021-10-28T19:08:10.163401+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTG1 as ready","entity_name":"ACTG1","entity_type":"gene"},{"created":"2021-10-28T19:08:10.153023+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actg1 has been classified as Green List (High Evidence).","entity_name":"ACTG1","entity_type":"gene"},{"created":"2021-10-28T19:07:59.121881+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTG1 were changed from BARAITSER-WINTER SYNDROME to Baraitser-Winter syndrome 2, MIM#614583","entity_name":"ACTG1","entity_type":"gene"},{"created":"2021-10-28T19:04:29.398013+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG1","entity_type":"gene"},{"created":"2021-10-28T19:04:17.309386+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Microphthalmia and coloboma are part of the phenotype. \nSources: Expert list; to: Syndromic disorder, associated with multiple congenital abnormalities, including microphthalmia.\r\n\r\nSources: Expert list","entity_name":"ACTG1","entity_type":"gene"},{"created":"2021-10-28T19:03:15.763625+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established association with cardiomyopathies. Three families reported with ASD.; to: Well established association with cardiomyopathies. Four families reported with ASD.","entity_name":"ACTC1","entity_type":"gene"},{"created":"2021-10-28T19:03:04.794897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTC1 as ready","entity_name":"ACTC1","entity_type":"gene"},{"created":"2021-10-28T19:03:04.782910+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actc1 has been classified as Green List (High Evidence).","entity_name":"ACTC1","entity_type":"gene"},{"created":"2021-10-28T19:02:42.587156+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTC1 were changed from Atrial septal defect 5 612794 to Atrial septal defect 5 612794; Cardiomyopathy, hypertrophic, 11 612098","entity_name":"ACTC1","entity_type":"gene"},{"created":"2021-10-28T19:02:24.692968+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTC1 were set to 24461919","entity_name":"ACTC1","entity_type":"gene"},{"created":"2021-10-28T19:01:58.837889+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTC1","entity_type":"gene"},{"created":"2021-10-28T19:01:46.954828+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31430208, 17947298; Phenotypes: Cardiomyopathy, hypertrophic, 11 612098, Atrial septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTC1","entity_type":"gene"},{"created":"2021-10-28T18:58:23.898289+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Iris coloboma is part of the phenotype. \nSources: Expert list; to: Severe perinatal disorder, multiple congenital anomalies associated.\r\nSources: Expert list","entity_name":"ACTB","entity_type":"gene"},{"created":"2021-10-28T18:57:09.062707+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTA1 as ready","entity_name":"ACTA1","entity_type":"gene"},{"created":"2021-10-28T18:57:09.051823+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acta1 has been classified as Green List (High Evidence).","entity_name":"ACTA1","entity_type":"gene"},{"created":"2021-10-28T18:57:05.612735+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTA1 were changed from Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 to Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800","entity_name":"ACTA1","entity_type":"gene"},{"created":"2021-10-28T18:56:41.193098+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"ACTA1","entity_type":"gene"},{"created":"2021-10-28T18:56:37.676136+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACTA1: Added comment: Severe perinatal neuromuscular disorders.; Changed rating: GREEN","entity_name":"ACTA1","entity_type":"gene"},{"created":"2021-10-28T18:53:17.148938+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACOX1 as ready","entity_name":"ACOX1","entity_type":"gene"},{"created":"2021-10-28T18:53:17.138177+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acox1 has been classified as Green List (High Evidence).","entity_name":"ACOX1","entity_type":"gene"},{"created":"2021-10-28T18:53:12.887354+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; ADRENOLEUKODYSTROPHY PSEUDONEONATAL to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470","entity_name":"ACOX1","entity_type":"gene"},{"created":"2021-10-28T18:52:54.878453+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACOX1","entity_type":"gene"},{"created":"2021-10-28T18:50:03.529767+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9516","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACE as ready","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:50:03.512893+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9516","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ace has been classified as Green List (High Evidence).","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:49:50.553121+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9516","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACE were changed from  to Renal tubular dysgenesis, MIM# 267430","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:49:25.311879+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9515","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACE were set to ","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:49:08.243840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9514","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:48:49.617096+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9513","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:48:16.892134+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACE as ready","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:48:16.881315+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ace has been classified as Green List (High Evidence).","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:48:13.556419+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACE were changed from Renal tubular dysgenesis 267430 to Renal tubular dysgenesis, MIM# 267430","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:48:02.988932+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACE were set to 30058238","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:47:48.745010+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACE","entity_type":"gene"},{"created":"2021-10-28T18:43:15.925353+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9513","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACADVL as ready","entity_name":"ACADVL","entity_type":"gene"},{"created":"2021-10-28T18:43:15.914681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9513","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acadvl has been classified as Green List (High Evidence).","entity_name":"ACADVL","entity_type":"gene"},{"created":"2021-10-28T18:43:07.091412+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9513","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACADVL were changed from  to VLCAD deficiency, MIM# 201475","entity_name":"ACADVL","entity_type":"gene"}]}