{"count":220833,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1007","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1005","results":[{"created":"2022-02-03T17:45:56.196538+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1447","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bap1 has been classified as Green List (High Evidence).","entity_name":"BAP1","entity_type":"gene"},{"created":"2022-02-03T17:45:01.374234+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM53 as ready","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-03T17:45:01.358300+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem53 has been classified as Green List (High Evidence).","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-03T17:44:56.599747+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM53 as Green List (high evidence)","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-03T17:44:56.589420+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem53 has been classified as Green List (High Evidence).","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-03T17:44:22.629204+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM53 as ready","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-03T17:44:22.618910+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem53 has been classified as Green List (High Evidence).","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-03T17:44:18.366515+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM53 as Green List (high evidence)","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-03T17:44:18.354612+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem53 has been classified as Green List (High Evidence).","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-03T17:42:14.152678+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10900","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OBSCN were changed from Hypertrophic cardiomyopathy to Rhabdomyolysis MONDO:0005290, OBSCN-related","entity_name":"OBSCN","entity_type":"gene"},{"created":"2022-02-03T17:41:54.569039+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10899","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914; 33438037","entity_name":"OBSCN","entity_type":"gene"},{"created":"2022-02-03T17:41:32.383369+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10898","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OBSCN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"OBSCN","entity_type":"gene"},{"created":"2022-02-03T17:40:52.421307+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10897","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OBSCN as Green List (high evidence)","entity_name":"OBSCN","entity_type":"gene"},{"created":"2022-02-03T17:40:52.408843+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10897","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: obscn has been classified as Green List (High Evidence).","entity_name":"OBSCN","entity_type":"gene"},{"created":"2022-02-03T15:19:40.202702+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3140","user_name":"Krithika Murali","item_type":"entity","text":"gene: ANKRD17 was added\ngene: ANKRD17 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD17 were set to 33909992\nPhenotypes for gene: ANKRD17 were set to Chopra-Amiel-Gordon syndrome - MIM#619504; multiple congenital malformations\nReview for gene: ANKRD17 was set to GREEN\nAdded comment: 33909992 - Chopra et al 2021 reported 34 individuals from 33 families with a syndromic ID\r\n\r\nMultiple cases with antenatal anomalies or features detectable antenatally reported\r\n- 3/34 with cleft lip and/or palate (including 2 with Pierre Robin sequence)\r\n- 1/34 retrognathia\r\n- 5/34 renal anomalies including 3 with unilateral renal agenesis and 1 with antenatal diagnosis of horseshoe kidney\r\n- 2/34 microcephaly\r\n- 4/34 macrocephaly (1 noted on 37/40 antenatal USS to have macrocephaly and enlarged cisterna magna, 1 also had NSD1 variant)\r\n- 5/34 IUGR/fetal growth concerns\r\n -1/34 with VSD \nSources: Literature","entity_name":"ANKRD17","entity_type":"gene"},{"created":"2022-02-03T15:12:08.338589+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.170","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Chopra-Amiel-Gordon syndrome - MIM#619504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD17","entity_type":"gene"},{"created":"2022-02-03T13:27:37.851948+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3140","user_name":"Krithika Murali","item_type":"entity","text":"gene: ACBD5 was added\ngene: ACBD5 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACBD5 were set to 27799409; 23105016; 33427402; 34668366\nPhenotypes for gene: ACBD5 were set to Retinal dystrophy with leukodystrophy - MIM#618863\nReview for gene: ACBD5 was set to RED\nAdded comment: Biallelic ACBD5 variants cause impairment of very long-chain fatty acid metabolism.  Patients have retinal dystrophy and leukodystrophy.  Other features include ataxia, spastic paraparesis,  developmental delay and facial dysmorphism.  One patient with cleft palate reported but this may be an incidental finding and not related to this condition.  No other antenatal features reported.\r\n\r\n--\r\n\t\r\nPMID 27799409 Ferdinandusse et al 2017  - patient born full-term with cleft palate, progressive leukodystrophy, ataxia, retinal dystrophy and facial dysmorphism\r\n\r\nPMID 23105016 Abu-Safieh et al 2013 - limited phenotypic information, reported 3 siblings with homozygous splice site ACBD5 variants with spastic paraparesis and leukodystrophy.\r\n\r\nPMID: 33427402 Bartlett et al 2020 - 36 year old F proband born at term after an uncomplicated pregnancy, normal growth parameters.  \r\n\r\nPMID: 34668366 Gorukmez et al 2021 - x2 siblings with homozygous variant – no antenatal features reported \nSources: Literature","entity_name":"ACBD5","entity_type":"gene"},{"created":"2022-02-03T12:37:35.308111+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3140","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16525029, 15105459; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-02-03T12:26:42.919848+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFAP74 as ready","entity_name":"CFAP74","entity_type":"gene"},{"created":"2022-02-03T12:26:42.903294+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap74 has been classified as Red List (Low Evidence).","entity_name":"CFAP74","entity_type":"gene"},{"created":"2022-02-03T12:26:37.756536+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3140","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP74 as Red List (low evidence)","entity_name":"CFAP74","entity_type":"gene"},{"created":"2022-02-03T12:26:37.739966+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap74 has been classified as Red List (Low Evidence).","entity_name":"CFAP74","entity_type":"gene"},{"created":"2022-02-03T12:25:31.741875+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10896","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAND2 as ready","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:25:31.730169+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10896","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hand2 has been classified as Amber List (Moderate Evidence).","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:24:44.440977+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10896","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HAND2 were changed from  to Congenital heart disease","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:24:22.897227+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10895","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HAND2 were set to ","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:23:58.070883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10894","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HAND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:23:37.141232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10893","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HAND2 as Amber List (moderate evidence)","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:23:37.130168+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10893","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hand2 has been classified as Amber List (Moderate Evidence).","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:23:14.832021+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAND2 as ready","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:23:14.822726+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hand2 has been classified as Amber List (Moderate Evidence).","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:23:10.200784+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HAND2 were changed from  to Congenital heart disease","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:22:34.246508+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HAND2 were set to ","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:22:05.425873+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HAND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:21:33.937631+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HAND2 as Amber List (moderate evidence)","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:21:33.926629+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hand2 has been classified as Amber List (Moderate Evidence).","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:20:53.246679+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAND2 as ready","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:20:53.236907+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hand2 has been classified as Amber List (Moderate Evidence).","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:20:45.211792+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3139","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HAND2 as Amber List (moderate evidence)","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T12:20:45.146967+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hand2 has been classified as Amber List (Moderate Evidence).","entity_name":"HAND2","entity_type":"gene"},{"created":"2022-02-03T10:54:09.018467+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3138","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: RMND1: Rating: RED; Mode of pathogenicity: None; Publications: 23022099, 25604853, 27843092; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-02-03T09:38:42.660541+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: QRICH1 as ready","entity_name":"QRICH1","entity_type":"gene"},{"created":"2022-02-03T09:38:42.651391+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qrich1 has been classified as Amber List (Moderate Evidence).","entity_name":"QRICH1","entity_type":"gene"},{"created":"2022-02-03T09:38:38.678950+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: QRICH1 were changed from QRICH1 syndrome to Ververi-Brady syndrome, MIM#617982","entity_name":"QRICH1","entity_type":"gene"},{"created":"2022-02-03T09:38:26.460916+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3137","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: QRICH1 were set to ","entity_name":"QRICH1","entity_type":"gene"},{"created":"2022-02-03T09:37:16.337274+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: QARS as ready","entity_name":"QARS","entity_type":"gene"},{"created":"2022-02-03T09:37:16.326352+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qars has been classified as Green List (High Evidence).","entity_name":"QARS","entity_type":"gene"},{"created":"2022-02-03T09:37:12.606082+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3136","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: QARS were changed from MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760","entity_name":"QARS","entity_type":"gene"},{"created":"2022-02-03T09:36:26.385884+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3135","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: QARS were set to ","entity_name":"QARS","entity_type":"gene"},{"created":"2022-02-03T09:34:11.766928+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3134","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: QARS as Green List (high evidence)","entity_name":"QARS","entity_type":"gene"},{"created":"2022-02-03T09:34:11.756207+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qars has been classified as Green List (High Evidence).","entity_name":"QARS","entity_type":"gene"},{"created":"2022-02-03T09:32:29.780096+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PXDN as ready","entity_name":"PXDN","entity_type":"gene"},{"created":"2022-02-03T09:32:29.767350+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pxdn has been classified as Green List (High Evidence).","entity_name":"PXDN","entity_type":"gene"},{"created":"2022-02-03T09:32:26.055100+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PXDN were changed from CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400","entity_name":"PXDN","entity_type":"gene"},{"created":"2022-02-03T09:32:12.995701+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3132","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PXDN were set to ","entity_name":"PXDN","entity_type":"gene"},{"created":"2022-02-03T09:31:56.892625+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3131","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PXDN as Green List (high evidence)","entity_name":"PXDN","entity_type":"gene"},{"created":"2022-02-03T09:31:56.880093+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pxdn has been classified as Green List (High Evidence).","entity_name":"PXDN","entity_type":"gene"},{"created":"2022-02-03T09:31:15.267210+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSAT1 as ready","entity_name":"PSAT1","entity_type":"gene"},{"created":"2022-02-03T09:31:15.255827+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psat1 has been classified as Green List (High Evidence).","entity_name":"PSAT1","entity_type":"gene"},{"created":"2022-02-03T09:31:10.979716+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3130","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSAT1 were set to 25152457; 31903955","entity_name":"PSAT1","entity_type":"gene"},{"created":"2022-02-03T09:30:51.096560+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSAT1 as Green List (high evidence)","entity_name":"PSAT1","entity_type":"gene"},{"created":"2022-02-03T09:30:51.084807+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psat1 has been classified as Green List (High Evidence).","entity_name":"PSAT1","entity_type":"gene"},{"created":"2022-02-03T09:30:38.973100+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PSAT1: Changed phenotypes: Neu-Laxova syndrome 2, MIM# 616038","entity_name":"PSAT1","entity_type":"gene"},{"created":"2022-02-03T09:30:29.229789+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Neu-Laxova syndrome: severe perinatal presentation with high mortality, not relevant to this panel. PSAT1 deficiency: single family described, ID is part of the phenotype. There is probably a spectrum of disorders related to this gene, downgrade to Amber on this panel for now.; to: Neu-Laxova syndrome: severe perinatal presentation with high mortality.","entity_name":"PSAT1","entity_type":"gene"},{"created":"2022-02-03T09:30:06.449566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PSAT1: Changed rating: GREEN","entity_name":"PSAT1","entity_type":"gene"},{"created":"2022-02-03T09:29:38.178593+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRUNE1 as ready","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2022-02-03T09:29:38.162260+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prune1 has been classified as Green List (High Evidence).","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2022-02-03T09:29:29.878432+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRUNE1 as Green List (high evidence)","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2022-02-03T09:29:29.864959+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prune1 has been classified as Green List (High Evidence).","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2022-02-03T09:28:25.858812+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3127","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PREPL as ready","entity_name":"PREPL","entity_type":"gene"},{"created":"2022-02-03T09:28:25.846888+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prepl has been classified as Amber List (Moderate Evidence).","entity_name":"PREPL","entity_type":"gene"},{"created":"2022-02-03T09:28:22.128963+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3127","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PREPL were changed from HYPOTONIA-CYSTINURIA SYNDROME to Myasthenic syndrome, congenital, 22, MIM#616224; Hypotonia-cystinuria syndrome","entity_name":"PREPL","entity_type":"gene"},{"created":"2022-02-03T09:28:01.745672+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3126","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PREPL were set to ","entity_name":"PREPL","entity_type":"gene"},{"created":"2022-02-03T09:27:43.624338+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3125","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PREPL: Added comment: At least six unrelated individuals and bi-allelic variants of this gene; however, several are said to have normal EMG/nerve conduction studies, therefore uncertain if this is truly a myasthenic syndrome.\r\n\r\nIn addition, different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. Presentation for these is post-natal.; Changed rating: AMBER; Changed publications: 29483676, 28726805, 24610330, 27472506","entity_name":"PREPL","entity_type":"gene"},{"created":"2022-02-03T09:25:15.012712+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10892","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POP1 as ready","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:25:14.995800+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10892","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pop1 has been classified as Green List (High Evidence).","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:25:05.774079+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10892","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POP1 were changed from  to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:24:45.641570+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10891","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POP1 were set to ","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:24:24.740113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10890","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:24:04.801702+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10889","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21455487, 27380734, 28067412; Phenotypes: Anauxetic dysplasia 2, OMIM:617396, Anauxetic dysplasia 2, MONDO:0054561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:23:33.318576+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POP1 as ready","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:23:33.305630+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pop1 has been classified as Green List (High Evidence).","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:23:13.325602+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POP1 were set to ","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:23:01.795812+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3124","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POP1 as Green List (high evidence)","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:23:01.781296+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pop1 has been classified as Green List (High Evidence).","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:22:50.797309+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.; to: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.\r\n\r\nAt least 4 unrelated families reported.","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:22:38.117575+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POP1: Changed publications: 21455487, 27380734, 28067412","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:21:54.255243+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Primarily a skeletal dysplasia, mild LD described in some but overall I don't think this is the right panel.; to: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:21:10.679719+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POP1: Changed rating: GREEN","entity_name":"POP1","entity_type":"gene"},{"created":"2022-02-03T09:20:43.098242+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLE as ready","entity_name":"POLE","entity_type":"gene"},{"created":"2022-02-03T09:20:43.067771+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pole has been classified as Green List (High Evidence).","entity_name":"POLE","entity_type":"gene"},{"created":"2022-02-03T09:20:39.277874+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLE were changed from severe growth failure of prenatal onset; IUGR; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) to IMAGE-I syndrome 618336","entity_name":"POLE","entity_type":"gene"},{"created":"2022-02-03T09:20:26.275334+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLE were set to 23230001; 25948378","entity_name":"POLE","entity_type":"gene"},{"created":"2022-02-03T09:19:36.436098+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3121","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLE as Green List (high evidence)","entity_name":"POLE","entity_type":"gene"},{"created":"2022-02-03T09:19:36.424400+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pole has been classified as Green List (High Evidence).","entity_name":"POLE","entity_type":"gene"},{"created":"2022-02-03T09:18:46.828716+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLPBP as ready","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:18:46.816575+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plpbp has been classified as Green List (High Evidence).","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:18:42.721922+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3120","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:18:30.183506+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3119","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLPBP were set to ","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-02-03T09:18:18.643837+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLPBP as Green List (high evidence)","entity_name":"PLPBP","entity_type":"gene"}]}