{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=811","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=809","results":[{"created":"2022-06-01T16:52:56.400971+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADPRHL2 was added\ngene: ADPRHL2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADPRHL2 were set to 30401461; 30100084\nPhenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170","entity_name":"ADPRHL2","entity_type":"gene"},{"created":"2022-06-01T16:52:55.918305+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACY1 was added\ngene: ACY1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACY1 were set to 24117009; 16465618; 16274666; 17562838\nPhenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency, MIM# 609924","entity_name":"ACY1","entity_type":"gene"},{"created":"2022-06-01T16:52:55.312074+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACSF3 was added\ngene: ACSF3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria, MIM#614265","entity_name":"ACSF3","entity_type":"gene"},{"created":"2022-06-01T16:52:54.820222+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC6 was added\ngene: ABCC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473","entity_name":"ABCC6","entity_type":"gene"},{"created":"2022-06-01T16:52:54.415419+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCA4 was added\ngene: ABCA4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3 MIM#604116; Stargardt disease 1 MIM#248200; Retinal dystrophy, early-onset severe MIM#248200","entity_name":"ABCA4","entity_type":"gene"},{"created":"2022-06-01T16:52:53.718932+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XPNPEP3 was added\ngene: XPNPEP3 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission\nMode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, 613159 (3)","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2022-06-01T16:52:53.290579+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRAC was added\ngene: TRAC was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission\nMode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)","entity_name":"TRAC","entity_type":"gene"},{"created":"2022-06-01T16:52:52.614711+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM94 was added\ngene: TMEM94 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM94 were set to 30526868\nPhenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316","entity_name":"TMEM94","entity_type":"gene"},{"created":"2022-06-01T16:52:52.118431+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL10 was added\ngene: RPL10 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission\nMode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 (MIM#300998)","entity_name":"RPL10","entity_type":"gene"},{"created":"2022-06-01T16:52:51.418164+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLA1 was added\ngene: POLA1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission\nMode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220; Van Esch-O'Driscoll syndrome, MIM #301030","entity_name":"POLA1","entity_type":"gene"},{"created":"2022-06-01T16:52:50.996315+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NTNG2 was added\ngene: NTNG2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Expert Review\nMode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NTNG2 were set to 31692205; 31668703\nPhenotypes for gene: NTNG2 were set to Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718","entity_name":"NTNG2","entity_type":"gene"},{"created":"2022-06-01T16:52:50.314488+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MOGS was added\ngene: MOGS was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Expert Review\nMode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOGS were set to 30587846; 33058492; 31925597\nPhenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056","entity_name":"MOGS","entity_type":"gene"},{"created":"2022-06-01T16:52:49.832336+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MBTPS1 was added\ngene: MBTPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Literature,Expert Review\nMode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MBTPS1 were set to 32857899; 30046013; 32420688\nPhenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2022-06-01T16:52:49.389036+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNE1 was added\ngene: KCNE1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission\nMode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, 612347 (3)","entity_name":"KCNE1","entity_type":"gene"},{"created":"2022-06-01T16:52:48.700147+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERBB3 was added\ngene: ERBB3 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission\nMode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598 (3)","entity_name":"ERBB3","entity_type":"gene"},{"created":"2022-06-01T16:52:48.210653+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DYNC1I2 was added\ngene: DYNC1I2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Expert Review\nMode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DYNC1I2 were set to 31079899\nPhenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies\t, MIM#618492","entity_name":"DYNC1I2","entity_type":"gene"},{"created":"2022-06-01T16:52:47.527955+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL2A1 was added\ngene: COL2A1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission\nMode of inheritance for gene: COL2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COL2A1 were set to 32896647; 31755234\nPhenotypes for gene: COL2A1 were set to Spondyloperipheral dysplasia, MIM #271700","entity_name":"COL2A1","entity_type":"gene"},{"created":"2022-06-01T16:52:47.139664+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B9D1 was added\ngene: B9D1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B9D1 were set to 21493627; 24886560; 25920555\nPhenotypes for gene: B9D1 were set to Joubert syndrome 27, MIM# 617120; Meckel syndrome 9, MIM# 614209","entity_name":"B9D1","entity_type":"gene"},{"created":"2022-06-01T16:52:46.412938+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNHIT3 was added\ngene: ZNHIT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565 (3), Autosomal recessive","entity_name":"ZNHIT3","entity_type":"gene"},{"created":"2022-06-01T16:52:45.990560+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF711 was added\ngene: ZNF711 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3)","entity_name":"ZNF711","entity_type":"gene"},{"created":"2022-06-01T16:52:45.511454+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF335 was added\ngene: ZNF335 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive","entity_name":"ZNF335","entity_type":"gene"},{"created":"2022-06-01T16:52:44.825646+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZMYND10 was added\ngene: ZMYND10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMYND10 were set to Ciliary dyskinesia, primary, 22, 615444 (3)","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2022-06-01T16:52:44.421180+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal, 275210 (3)","entity_name":"ZMPSTE24","entity_type":"gene"},{"created":"2022-06-01T16:52:43.792473+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZIC3 was added\ngene: ZIC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZIC3 were set to Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)","entity_name":"ZIC3","entity_type":"gene"},{"created":"2022-06-01T16:52:43.318013+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700 (3)","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2022-06-01T16:52:42.619540+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZDHHC9 was added\ngene: ZDHHC9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3)","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2022-06-01T16:52:42.208185+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZC4H2 was added\ngene: ZC4H2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, 314580 (3)","entity_name":"ZC4H2","entity_type":"gene"},{"created":"2022-06-01T16:52:41.515867+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZBTB24 was added\ngene: ZBTB24 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2022-06-01T16:52:41.110227+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZAP70 was added\ngene: ZAP70 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZAP70 were set to Selective T-cell defect, 269840 (3)","entity_name":"ZAP70","entity_type":"gene"},{"created":"2022-06-01T16:52:40.627049+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YARS2 was added\ngene: YARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)","entity_name":"YARS2","entity_type":"gene"},{"created":"2022-06-01T16:52:39.994375+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XYLT2 was added\ngene: XYLT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822 (3), Autosomal recessive","entity_name":"XYLT2","entity_type":"gene"},{"created":"2022-06-01T16:52:39.543553+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XYLT1 was added\ngene: XYLT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, 615777 (3)","entity_name":"XYLT1","entity_type":"gene"},{"created":"2022-06-01T16:52:38.819857+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XRCC4 was added\ngene: XRCC4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive","entity_name":"XRCC4","entity_type":"gene"},{"created":"2022-06-01T16:52:38.406425+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XPC was added\ngene: XPC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3)","entity_name":"XPC","entity_type":"gene"},{"created":"2022-06-01T16:52:37.718764+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XPA was added\ngene: XPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 (3)","entity_name":"XPA","entity_type":"gene"},{"created":"2022-06-01T16:52:37.306565+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XIAP was added\ngene: XIAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3)","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-06-01T16:52:36.792442+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WWOX was added\ngene: WWOX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WWOX were set to Epileptic encephalopathy, early infantile, 28, 616211 (3)","entity_name":"WWOX","entity_type":"gene"},{"created":"2022-06-01T16:52:36.110989+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WRN was added\ngene: WRN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRN were set to Werner syndrome, 277700 (3)","entity_name":"WRN","entity_type":"gene"},{"created":"2022-06-01T16:52:35.613799+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WRAP53 was added\ngene: WRAP53 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988 (3)","entity_name":"WRAP53","entity_type":"gene"},{"created":"2022-06-01T16:52:35.008379+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT7A was added\ngene: WNT7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)","entity_name":"WNT7A","entity_type":"gene"},{"created":"2022-06-01T16:52:34.518861+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT10B was added\ngene: WNT10B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT10B were set to Split-hand/foot malformation 6, 225300 (3)","entity_name":"WNT10B","entity_type":"gene"},{"created":"2022-06-01T16:52:33.909559+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT1 was added\ngene: WNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, 615220 (3)","entity_name":"WNT1","entity_type":"gene"},{"created":"2022-06-01T16:52:33.424373+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNK1 was added\ngene: WNK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)","entity_name":"WNK1","entity_type":"gene"},{"created":"2022-06-01T16:52:32.920955+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WISP3 was added\ngene: WISP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)","entity_name":"WISP3","entity_type":"gene"},{"created":"2022-06-01T16:52:32.301184+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WHRN was added\ngene: WHRN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383 (3)","entity_name":"WHRN","entity_type":"gene"},{"created":"2022-06-01T16:52:31.816025+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WFS1 was added\ngene: WFS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WFS1 were set to Wolfram syndrome, 222300 (3)","entity_name":"WFS1","entity_type":"gene"},{"created":"2022-06-01T16:52:31.192299+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR81 was added\ngene: WDR81 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)","entity_name":"WDR81","entity_type":"gene"},{"created":"2022-06-01T16:52:30.710247+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR73 was added\ngene: WDR73 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR73 were set to Galloway-Mowat syndrome, 251300 (3)","entity_name":"WDR73","entity_type":"gene"},{"created":"2022-06-01T16:52:30.054504+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR62 was added\ngene: WDR62 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)","entity_name":"WDR62","entity_type":"gene"},{"created":"2022-06-01T16:52:29.601312+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR60 was added\ngene: WDR60 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)","entity_name":"WDR60","entity_type":"gene"},{"created":"2022-06-01T16:52:29.119533+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR45B was added\ngene: WDR45B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR45B were set to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive","entity_name":"WDR45B","entity_type":"gene"},{"created":"2022-06-01T16:52:28.500151+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR35 was added\ngene: WDR35 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR35 were set to Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)","entity_name":"WDR35","entity_type":"gene"},{"created":"2022-06-01T16:52:28.017500+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR34 was added\ngene: WDR34 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)","entity_name":"WDR34","entity_type":"gene"},{"created":"2022-06-01T16:52:27.320918+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR19 was added\ngene: WDR19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR19 were set to Senior-Loken syndrome 8, 616307 (3)","entity_name":"WDR19","entity_type":"gene"},{"created":"2022-06-01T16:52:26.925382+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WAS was added\ngene: WAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3)","entity_name":"WAS","entity_type":"gene"},{"created":"2022-06-01T16:52:26.489049+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WARS2 was added\ngene: WARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive","entity_name":"WARS2","entity_type":"gene"},{"created":"2022-06-01T16:52:25.720822+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VWF was added\ngene: VWF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VWF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VWF were set to von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)","entity_name":"VWF","entity_type":"gene"},{"created":"2022-06-01T16:52:25.309494+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VSX2 was added\ngene: VSX2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3)","entity_name":"VSX2","entity_type":"gene"},{"created":"2022-06-01T16:52:24.621328+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VRK1 was added\ngene: VRK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596 (3)","entity_name":"VRK1","entity_type":"gene"},{"created":"2022-06-01T16:52:24.210689+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS53 was added\ngene: VPS53 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, 615851 (3)","entity_name":"VPS53","entity_type":"gene"},{"created":"2022-06-01T16:52:23.521864+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS45 was added\ngene: VPS45 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)","entity_name":"VPS45","entity_type":"gene"},{"created":"2022-06-01T16:52:23.026886+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS37A was added\ngene: VPS37A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive, 614898 (3)","entity_name":"VPS37A","entity_type":"gene"},{"created":"2022-06-01T16:52:22.598627+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS33B was added\ngene: VPS33B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)","entity_name":"VPS33B","entity_type":"gene"},{"created":"2022-06-01T16:52:21.917208+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS13B was added\ngene: VPS13B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13B were set to Cohen syndrome, 216550 (3)","entity_name":"VPS13B","entity_type":"gene"},{"created":"2022-06-01T16:52:21.492881+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS13A was added\ngene: VPS13A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150 (3)","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-06-01T16:52:20.813511+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS11 was added\ngene: VPS11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive","entity_name":"VPS11","entity_type":"gene"},{"created":"2022-06-01T16:52:20.412225+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VMA21 was added\ngene: VMA21 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive","entity_name":"VMA21","entity_type":"gene"},{"created":"2022-06-01T16:52:19.729653+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VLDLR was added\ngene: VLDLR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)","entity_name":"VLDLR","entity_type":"gene"},{"created":"2022-06-01T16:52:19.318028+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VKORC1 was added\ngene: VKORC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)","entity_name":"VKORC1","entity_type":"gene"},{"created":"2022-06-01T16:52:18.901249+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VIPAS39 was added\ngene: VIPAS39 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2022-06-01T16:52:18.220811+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VARS2 was added\ngene: VARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917 (3)","entity_name":"VARS2","entity_type":"gene"},{"created":"2022-06-01T16:52:17.815603+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VARS was added\ngene: VARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive","entity_name":"VARS","entity_type":"gene"},{"created":"2022-06-01T16:52:17.194222+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP9X was added\ngene: USP9X was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3)","entity_name":"USP9X","entity_type":"gene"},{"created":"2022-06-01T16:52:16.725206+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USH2A was added\ngene: USH2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901 (3)","entity_name":"USH2A","entity_type":"gene"},{"created":"2022-06-01T16:52:16.311372+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USH1G was added\ngene: USH1G was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943 (3)","entity_name":"USH1G","entity_type":"gene"},{"created":"2022-06-01T16:52:15.617608+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USH1C was added\ngene: USH1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904 (3)","entity_name":"USH1C","entity_type":"gene"},{"created":"2022-06-01T16:52:15.204078+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USB1 was added\ngene: USB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USB1 were set to Poikiloderma with neutropenia, 604173 (3)","entity_name":"USB1","entity_type":"gene"},{"created":"2022-06-01T16:52:14.513848+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UROS was added\ngene: UROS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, 263700 (3)","entity_name":"UROS","entity_type":"gene"},{"created":"2022-06-01T16:52:14.107690+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UQCRQ was added\ngene: UQCRQ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)","entity_name":"UQCRQ","entity_type":"gene"},{"created":"2022-06-01T16:52:13.689066+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UPF3B was added\ngene: UPF3B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3)","entity_name":"UPF3B","entity_type":"gene"},{"created":"2022-06-01T16:52:13.004374+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UNC80 was added\ngene: UNC80 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive","entity_name":"UNC80","entity_type":"gene"},{"created":"2022-06-01T16:52:12.518505+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UNC13D was added\ngene: UNC13D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)","entity_name":"UNC13D","entity_type":"gene"},{"created":"2022-06-01T16:52:11.923237+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UMPS was added\ngene: UMPS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UMPS were set to Orotic aciduria, 258900 (3)","entity_name":"UMPS","entity_type":"gene"},{"created":"2022-06-01T16:52:11.492446+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UGT1A1 was added\ngene: UGT1A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I, 218800 (3)","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2022-06-01T16:52:10.812642+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UFM1 was added\ngene: UFM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive","entity_name":"UFM1","entity_type":"gene"},{"created":"2022-06-01T16:52:10.322543+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBR1 was added\ngene: UBR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, 243800 (3)","entity_name":"UBR1","entity_type":"gene"},{"created":"2022-06-01T16:52:09.917556+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBE3B was added\ngene: UBE3B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, 244450 (3)","entity_name":"UBE3B","entity_type":"gene"},{"created":"2022-06-01T16:52:09.295736+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBE2T was added\ngene: UBE2T was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3)","entity_name":"UBE2T","entity_type":"gene"},{"created":"2022-06-01T16:52:08.819548+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBE2A was added\ngene: UBE2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)","entity_name":"UBE2A","entity_type":"gene"},{"created":"2022-06-01T16:52:08.218247+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBA5 was added\ngene: UBA5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive","entity_name":"UBA5","entity_type":"gene"},{"created":"2022-06-01T16:52:07.802451+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBA1 was added\ngene: UBA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)","entity_name":"UBA1","entity_type":"gene"},{"created":"2022-06-01T16:52:07.328028+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TYRP1 was added\ngene: TYRP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III, 203290 (3)","entity_name":"TYRP1","entity_type":"gene"},{"created":"2022-06-01T16:52:06.689059+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TYR was added\ngene: TYR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3)","entity_name":"TYR","entity_type":"gene"},{"created":"2022-06-01T16:52:06.221797+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TYMP was added\ngene: TYMP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)","entity_name":"TYMP","entity_type":"gene"},{"created":"2022-06-01T16:52:05.519915+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TYK2 was added\ngene: TYK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYK2 were set to Immunodeficiency 35, 611521 (3)","entity_name":"TYK2","entity_type":"gene"},{"created":"2022-06-01T16:52:05.116831+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TXNL4A was added\ngene: TXNL4A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, 608572 (3)","entity_name":"TXNL4A","entity_type":"gene"},{"created":"2022-06-01T16:52:04.698878+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TWNK was added\ngene: TWNK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)","entity_name":"TWNK","entity_type":"gene"},{"created":"2022-06-01T16:52:04.027268+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUSC3 was added\ngene: TUSC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7, 611093 (3)","entity_name":"TUSC3","entity_type":"gene"},{"created":"2022-06-01T16:52:03.606348+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TULP1 was added\ngene: TULP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132 (3)","entity_name":"TULP1","entity_type":"gene"},{"created":"2022-06-01T16:52:02.926827+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUFM was added\ngene: TUFM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678 (3)","entity_name":"TUFM","entity_type":"gene"}]}