{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1100","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1098","results":[{"created":"2021-12-06T10:18:36.352704+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.247","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FANCA as Amber List (moderate evidence)","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-12-06T10:18:36.342919+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.247","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fanca has been classified as Amber List (Moderate Evidence).","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-12-06T10:15:21.603181+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.957","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091; Phenotypes: Auriculocondylar syndrome 1, OMIM #602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-12-06T10:05:11.098660+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.957","user_name":"Krithika Murali","item_type":"entity","text":"gene: BRWD1 was added\ngene: BRWD1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRWD1 were set to 33389130\nPhenotypes for gene: BRWD1 were set to Situs inversus; primary ciliary dyskinesia like\nReview for gene: BRWD1 was set to GREEN\nAdded comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or \"PCD-likely\" symptoms of re-occurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls). \nSources: Expert list, Literature","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-12-06T10:00:57.277600+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.957","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease (MIM# 609242), Schindler disease, type I and type II (MIM#609241), alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAGA","entity_type":"gene"},{"created":"2021-12-06T09:53:37.327015+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.957","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765, MONDO:0009112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GNPAT","entity_type":"gene"},{"created":"2021-12-06T09:33:10.665104+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10085","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: TRIM27: Rating: RED; Mode of pathogenicity: None; Publications: 34419804; Phenotypes: parkinson's disease; Mode of inheritance: None; Current diagnostic: yes","entity_name":"TRIM27","entity_type":"gene"},{"created":"2021-12-06T09:27:36.102015+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4351","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARFGEF2 as ready","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:27:36.089431+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef2 has been classified as Green List (High Evidence).","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:27:32.323543+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4351","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARFGEF2 were changed from  to Periventricular heterotopia with microcephaly (MIM#608097)","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:27:04.903595+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4350","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARFGEF2 were set to ","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:26:37.885244+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4349","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:26:09.919065+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4348","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:25:28.004715+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.957","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARFGEF2 as ready","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:25:27.994743+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.957","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef2 has been classified as Green List (High Evidence).","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:25:17.978759+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.957","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARFGEF2 were set to ","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:25:05.968951+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.956","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARFGEF2 as Green List (high evidence)","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:25:05.958922+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.956","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef2 has been classified as Green List (High Evidence).","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:24:53.537687+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-12-06T09:23:02.155066+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4S1 as ready","entity_name":"AP4S1","entity_type":"gene"},{"created":"2021-12-06T09:23:02.135637+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4s1 has been classified as Green List (High Evidence).","entity_name":"AP4S1","entity_type":"gene"},{"created":"2021-12-06T09:22:57.776703+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP4S1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 to Spastic paraplegia 52, autosomal recessive, MIM# 614067","entity_name":"AP4S1","entity_type":"gene"},{"created":"2021-12-06T09:22:45.805645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.954","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4S1 were set to ","entity_name":"AP4S1","entity_type":"gene"},{"created":"2021-12-06T09:22:34.485125+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.953","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP4S1 as Green List (high evidence)","entity_name":"AP4S1","entity_type":"gene"},{"created":"2021-12-06T09:22:34.474844+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.953","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4s1 has been classified as Green List (High Evidence).","entity_name":"AP4S1","entity_type":"gene"},{"created":"2021-12-06T09:22:22.404302+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.952","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 families reported and a zebrafish model.; to: Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe ID with poor or absent speech development. More than 10 families reported and a zebrafish model.\r\n\r\nMicrocephaly is a feature.","entity_name":"AP4S1","entity_type":"gene"},{"created":"2021-12-06T09:20:33.583011+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.952","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4M1 as ready","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-12-06T09:20:33.573852+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.952","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4m1 has been classified as Green List (High Evidence).","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-12-06T09:20:29.349438+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.952","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP4M1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 to Spastic paraplegia 50, autosomal recessive, MIM# 612936","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-12-06T09:20:16.940001+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.951","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4M1 were set to ","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-12-06T09:20:03.032406+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.950","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP4M1 as Green List (high evidence)","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-12-06T09:20:02.997595+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.950","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4m1 has been classified as Green List (High Evidence).","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-12-06T09:19:48.857619+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.949","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.; to: Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.\r\n\r\nMicrocephaly and ventriculomegaly are features.","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-12-06T09:18:12.233648+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.949","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4B1 as ready","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-12-06T09:18:12.222503+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.949","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4b1 has been classified as Green List (High Evidence).","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-12-06T09:18:02.777287+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.949","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 3152572521620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-12-06T09:17:36.338761+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.948","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4B1 were set to ","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-12-06T09:17:10.702130+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.947","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP4B1 as Green List (high evidence)","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-12-06T09:17:10.691977+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.947","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4b1 has been classified as Green List (High Evidence).","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-12-06T09:17:00.082075+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.946","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.; to: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.\r\n\r\nMicrocephaly and ventriculomegaly are features.","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-12-06T09:14:53.708755+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP3B2 as ready","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:14:53.698383+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3b2 has been classified as Green List (High Evidence).","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:14:27.360372+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP3B2 as Green List (high evidence)","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:14:27.351609+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3b2 has been classified as Green List (High Evidence).","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:13:54.623245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10085","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP3B2 as ready","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:13:54.613256+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10085","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3b2 has been classified as Green List (High Evidence).","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:10:09.169937+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP3B2 was added\ngene: AP3B2 was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP3B2 were set to 27431290; 27866705; 32705489\nPhenotypes for gene: AP3B2 were set to Developmental and epileptic encephalopathy 48, MIM# 617276\nReview for gene: AP3B2 was set to GREEN\nAdded comment: More than 9 unrelated families reported. Disorder is characterised by ID, epilepsy, optic atrophy and microcephaly in some. \nSources: Expert Review","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:09:40.537751+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10085","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP3B2 were changed from  to Developmental and epileptic encephalopathy 48, MIM# 617276","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:09:13.665139+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10084","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3B2 were set to ","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:08:25.949957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10083","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:08:08.953175+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10082","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Developmental and epileptic encephalopathy 48, MIM# 617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:07:27.684046+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.946","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP3B2 as ready","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:07:27.673512+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.946","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3b2 has been classified as Amber List (Moderate Evidence).","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:07:10.940395+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.946","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP3B2 were changed from Epileptic Encephalopathy with Optic Atrophy to Developmental and epileptic encephalopathy 48, MIM#\t617276","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:06:15.138091+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANTXR2 as ready","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T09:06:15.127144+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: antxr2 has been classified as Green List (High Evidence).","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T09:06:04.711627+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANTXR2 were changed from  to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T09:05:34.541702+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANTXR2 were set to 12973667; 14508707","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T09:05:06.842195+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.314","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANTXR2 were set to ","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T09:04:25.468970+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.945","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3B2 were set to ","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:04:13.479464+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.944","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 8 unrelated families reported.; to: At least 8 unrelated families reported. Onset of symptoms is post-natal. Microcephaly reported in some, though onset is unclear.","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:04:00.601295+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.944","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: None; Publications: 9390828, 24890873, 17146397, 25505834, 16630581, 16162639, 23976996, 21908426; Phenotypes: Deafness, autosomal dominant 17 (MIM#603622), Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MIM#155100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH9","entity_type":"gene"},{"created":"2021-12-06T09:03:45.586416+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.944","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AP3B2: Changed rating: AMBER","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-12-06T09:02:13.165820+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANTXR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T09:01:37.954248+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T09:01:14.004885+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.944","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANTXR2 as ready","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T09:01:13.994991+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.944","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: antxr2 has been classified as Green List (High Evidence).","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T09:00:19.344433+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10082","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANTXR2 as ready","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T09:00:19.334398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10082","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: antxr2 has been classified as Green List (High Evidence).","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T08:58:29.450775+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10082","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANTXR2 were changed from  to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T08:58:10.675958+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10081","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANTXR2 were set to ","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T08:57:50.534445+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10080","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANTXR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T08:57:31.492847+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10079","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T08:57:07.056809+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.944","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome 228600 to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T08:56:16.354972+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.943","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANTXR2 as Green List (high evidence)","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T08:56:16.336812+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.943","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: antxr2 has been classified as Green List (High Evidence).","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T08:56:03.984105+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.942","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-12-06T08:51:35.240601+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.942","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKS6 as ready","entity_name":"ANKS6","entity_type":"gene"},{"created":"2021-12-06T08:51:35.230652+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.942","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: anks6 has been classified as Green List (High Evidence).","entity_name":"ANKS6","entity_type":"gene"},{"created":"2021-12-06T08:51:30.842930+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.942","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANKS6 were set to ","entity_name":"ANKS6","entity_type":"gene"},{"created":"2021-12-06T08:51:19.312859+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.941","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKS6 were changed from Nephronophthisis 16, 615382 to Nephronophthisis 16, MIM# 615382; MONDO:0014158","entity_name":"ANKS6","entity_type":"gene"},{"created":"2021-12-06T08:51:12.460967+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10079","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes","entity_name":"CR1","entity_type":"gene"},{"created":"2021-12-06T08:50:45.896609+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANKS6 as Green List (high evidence)","entity_name":"ANKS6","entity_type":"gene"},{"created":"2021-12-06T08:50:45.887255+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.940","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: anks6 has been classified as Green List (High Evidence).","entity_name":"ANKS6","entity_type":"gene"},{"created":"2021-12-06T08:49:55.762854+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.939","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKRD26 as ready","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2021-12-06T08:49:55.753384+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.939","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd26 has been classified as Red List (Low Evidence).","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2021-12-06T08:49:51.970886+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.939","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKRD26 were changed from THROMBOCYTOPENIA 2 to Thrombocytopaenia 2, MIM# 188000","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2021-12-06T08:49:40.225954+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.938","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANKRD26 were set to ","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2021-12-06T08:49:29.462303+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.937","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANKRD26 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2021-12-06T08:49:19.615974+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.936","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANKRD26 as Red List (low evidence)","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2021-12-06T08:49:19.604715+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.936","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd26 has been classified as Red List (Low Evidence).","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2021-12-06T08:49:08.461816+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.935","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANKRD26: Rating: RED; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2021-12-06T06:55:57.907617+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.935","user_name":"Chloe Stutterd","item_type":"entity","text":"reviewed gene: WNT4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 16959810, 15317892, 18182450; Phenotypes: 158330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WNT4","entity_type":"gene"},{"created":"2021-12-06T06:36:20.438133+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.935","user_name":"Chloe Stutterd","item_type":"entity","text":"reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33916893; Phenotypes: 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WWOX","entity_type":"gene"},{"created":"2021-12-06T06:22:13.779153+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.935","user_name":"Chloe Stutterd","item_type":"entity","text":"reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: None; Publications: Smit, C., Bütow, K. W., Naidoo, S., & Olorunju, S. (2019). Identification of Possible Maternal Risk Factors for Development of Syndromic Oro-Facial Clefts. Clinical Neurology and Neuroscience, 3(3), 58.; Phenotypes: 610227; Mode of inheritance: None","entity_name":"ZNF750","entity_type":"gene"},{"created":"2021-12-05T14:42:34.415925+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNB1","entity_type":"gene"},{"created":"2021-12-05T14:41:45.203777+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNB1 as ready","entity_name":"GNB1","entity_type":"gene"},{"created":"2021-12-05T14:41:45.188838+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnb1 has been classified as Green List (High Evidence).","entity_name":"GNB1","entity_type":"gene"},{"created":"2021-12-05T14:41:40.983641+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNB1 as Green List (high evidence)","entity_name":"GNB1","entity_type":"gene"},{"created":"2021-12-05T14:41:40.974153+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnb1 has been classified as Green List (High Evidence).","entity_name":"GNB1","entity_type":"gene"}]}