{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1844","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1842","results":[{"created":"2020-04-19T20:55:25.540837+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCH1 was added\ngene: GCH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-04-19T20:55:25.131046+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCDH was added\ngene: GCDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to Glutaricaciduria, type I, 231670 (3)","entity_name":"GCDH","entity_type":"gene"},{"created":"2020-04-19T20:55:24.669628+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBE1 was added\ngene: GBE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500 (3)","entity_name":"GBE1","entity_type":"gene"},{"created":"2020-04-19T20:55:24.039088+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBA2 was added\ngene: GBA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409 (3)","entity_name":"GBA2","entity_type":"gene"},{"created":"2020-04-19T20:55:23.719726+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBA was added\ngene: GBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013 (3)","entity_name":"GBA","entity_type":"gene"},{"created":"2020-04-19T20:55:23.246203+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATM was added\ngene: GATM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718 (3)","entity_name":"GATM","entity_type":"gene"},{"created":"2020-04-19T20:55:22.848750+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GAS8 was added\ngene: GAS8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAS8 were set to Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive","entity_name":"GAS8","entity_type":"gene"},{"created":"2020-04-19T20:55:22.427401+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GAN was added\ngene: GAN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAN were set to Giant axonal neuropathy-1, 256850 (3)","entity_name":"GAN","entity_type":"gene"},{"created":"2020-04-19T20:55:21.945066+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GAMT was added\ngene: GAMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, 612736 (3)","entity_name":"GAMT","entity_type":"gene"},{"created":"2020-04-19T20:55:21.542734+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALT was added\ngene: GALT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALT were set to Galactosemia, 230400 (3)","entity_name":"GALT","entity_type":"gene"},{"created":"2020-04-19T20:55:21.219718+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALNS was added\ngene: GALNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000 (3)","entity_name":"GALNS","entity_type":"gene"},{"created":"2020-04-19T20:55:20.825456+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALC was added\ngene: GALC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Krabbe disease, 245200 (3)","entity_name":"GALC","entity_type":"gene"},{"created":"2020-04-19T20:55:20.048180+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GAA was added\ngene: GAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAA were set to Glycogen storage disease II, 232300 (3)","entity_name":"GAA","entity_type":"gene"},{"created":"2020-04-19T20:55:19.647136+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: G6PC3 was added\ngene: G6PC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3)","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-04-19T20:55:19.261491+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: G6PC was added\ngene: G6PC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 (3)","entity_name":"G6PC","entity_type":"gene"},{"created":"2020-04-19T20:55:18.838076+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FYCO1 was added\ngene: FYCO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FYCO1 were set to Cataract 18, autosomal recessive, 610019 (3)","entity_name":"FYCO1","entity_type":"gene"},{"created":"2020-04-19T20:55:18.442024+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FUCA1 was added\ngene: FUCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FUCA1 were set to Fucosidosis, 230000 (3)","entity_name":"FUCA1","entity_type":"gene"},{"created":"2020-04-19T20:55:18.039283+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FTSJ1 was added\ngene: FTSJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FTSJ1 were set to Mental retardation, X-linked 9, 309549 (3)","entity_name":"FTSJ1","entity_type":"gene"},{"created":"2020-04-19T20:55:17.635332+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FTO was added\ngene: FTO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FTO were set to Growth retardation, developmental delay, coarse facies, and early death, 612938 (3)","entity_name":"FTO","entity_type":"gene"},{"created":"2020-04-19T20:55:17.245004+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FTCD was added\ngene: FTCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency, 229100 (3)","entity_name":"FTCD","entity_type":"gene"},{"created":"2020-04-19T20:55:16.548070+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FRRS1L was added\ngene: FRRS1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2020-04-19T20:55:16.131668+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FREM2 was added\ngene: FREM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FREM2 were set to Fraser syndrome, 219000 (3)","entity_name":"FREM2","entity_type":"gene"},{"created":"2020-04-19T20:55:15.645073+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FREM1 was added\ngene: FREM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980 (3)","entity_name":"FREM1","entity_type":"gene"},{"created":"2020-04-19T20:55:15.242805+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FRAS1 was added\ngene: FRAS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FRAS1 were set to Fraser syndrome, 219000 (3)","entity_name":"FRAS1","entity_type":"gene"},{"created":"2020-04-19T20:55:14.847567+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXRED1 was added\ngene: FOXRED1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, 252010 (3)","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2020-04-19T20:55:14.451908+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXP3 was added\ngene: FOXP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)","entity_name":"FOXP3","entity_type":"gene"},{"created":"2020-04-19T20:55:14.045023+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXN1 was added\ngene: FOXN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)","entity_name":"FOXN1","entity_type":"gene"},{"created":"2020-04-19T20:55:13.643694+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXE3 was added\ngene: FOXE3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXE3 were set to Aphakia, congenital primary, 610256 (3)","entity_name":"FOXE3","entity_type":"gene"},{"created":"2020-04-19T20:55:13.246173+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOLR1 was added\ngene: FOLR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-04-19T20:55:12.448553+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FMR1 was added\ngene: FMR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FMR1 were set to Fragile X syndrome","entity_name":"FMR1","entity_type":"gene"},{"created":"2020-04-19T20:55:12.036997+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLVCR2 was added\ngene: FLVCR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3)","entity_name":"FLVCR2","entity_type":"gene"},{"created":"2020-04-19T20:55:11.647495+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLVCR1 was added\ngene: FLVCR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2020-04-19T20:55:11.246751+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLNB was added\ngene: FLNB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FLNB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLNB were set to Spondylocarpotarsal synostosis syndrome, 272460 (3)","entity_name":"FLNB","entity_type":"gene"},{"created":"2020-04-19T20:55:10.850379+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLNA was added\ngene: FLNA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3)","entity_name":"FLNA","entity_type":"gene"},{"created":"2020-04-19T20:55:10.545774+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLAD1 was added\ngene: FLAD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive","entity_name":"FLAD1","entity_type":"gene"},{"created":"2020-04-19T20:55:10.144105+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FKTN was added\ngene: FKTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-04-19T20:55:09.736935+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FKRP was added\ngene: FKRP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-04-19T20:55:09.342620+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FKBP14 was added\ngene: FKBP14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)","entity_name":"FKBP14","entity_type":"gene"},{"created":"2020-04-19T20:55:08.642516+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FKBP10 was added\ngene: FKBP10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKBP10 were set to Bruck syndrome 1, 259450 (3)","entity_name":"FKBP10","entity_type":"gene"},{"created":"2020-04-19T20:55:08.243998+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FIG4 was added\ngene: FIG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FIG4 were set to Yunis-Varon syndrome, 216340 (3)","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-04-19T20:55:07.859536+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FHL1 was added\ngene: FHL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)","entity_name":"FHL1","entity_type":"gene"},{"created":"2020-04-19T20:55:07.537513+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FH was added\ngene: FH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FH were set to Fumarase deficiency, 606812 (3)","entity_name":"FH","entity_type":"gene"},{"created":"2020-04-19T20:55:07.151130+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGG was added\ngene: FGG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGG were set to Afibrinogenemia, congenital, 202400 (3)","entity_name":"FGG","entity_type":"gene"},{"created":"2020-04-19T20:55:06.823463+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGD4 was added\ngene: FGD4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease, type 4H, 609311 (3)","entity_name":"FGD4","entity_type":"gene"},{"created":"2020-04-19T20:55:06.442350+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGB was added\ngene: FGB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGB were set to Afibrinogenemia, congenital, 202400 (3)","entity_name":"FGB","entity_type":"gene"},{"created":"2020-04-19T20:55:06.046949+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGA was added\ngene: FGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGA were set to Afibrinogenemia, congenital, 202400 (3)","entity_name":"FGA","entity_type":"gene"},{"created":"2020-04-19T20:55:05.421660+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FERMT3 was added\ngene: FERMT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, 612840 (3)","entity_name":"FERMT3","entity_type":"gene"},{"created":"2020-04-19T20:55:05.042968+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FERMT1 was added\ngene: FERMT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FERMT1 were set to Kindler syndrome, 173650 (3)","entity_name":"FERMT1","entity_type":"gene"},{"created":"2020-04-19T20:55:04.641790+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBXO7 was added\ngene: FBXO7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300 (3)","entity_name":"FBXO7","entity_type":"gene"},{"created":"2020-04-19T20:55:04.236994+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBXL4 was added\ngene: FBXL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-04-19T20:55:03.845733+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBP1 was added\ngene: FBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency, 229700 (3)","entity_name":"FBP1","entity_type":"gene"},{"created":"2020-04-19T20:55:03.452912+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBLN5 was added\ngene: FBLN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, 219100 (3)","entity_name":"FBLN5","entity_type":"gene"},{"created":"2020-04-19T20:55:03.052240+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAT4 was added\ngene: FAT4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)","entity_name":"FAT4","entity_type":"gene"},{"created":"2020-04-19T20:55:02.645773+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FARS2 was added\ngene: FARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946 (3)","entity_name":"FARS2","entity_type":"gene"},{"created":"2020-04-19T20:55:02.243888+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCL was added\ngene: FANCL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3)","entity_name":"FANCL","entity_type":"gene"},{"created":"2020-04-19T20:55:01.928221+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCI was added\ngene: FANCI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3)","entity_name":"FANCI","entity_type":"gene"},{"created":"2020-04-19T20:55:01.562528+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCG was added\ngene: FANCG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3)","entity_name":"FANCG","entity_type":"gene"},{"created":"2020-04-19T20:55:00.921567+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCF was added\ngene: FANCF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3)","entity_name":"FANCF","entity_type":"gene"},{"created":"2020-04-19T20:55:00.547338+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCE was added\ngene: FANCE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3)","entity_name":"FANCE","entity_type":"gene"},{"created":"2020-04-19T20:55:00.137731+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCD2 was added\ngene: FANCD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3)","entity_name":"FANCD2","entity_type":"gene"},{"created":"2020-04-19T20:54:59.731587+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCC was added\ngene: FANCC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3)","entity_name":"FANCC","entity_type":"gene"},{"created":"2020-04-19T20:54:59.266783+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCB was added\ngene: FANCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3)","entity_name":"FANCB","entity_type":"gene"},{"created":"2020-04-19T20:54:58.944222+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCA was added\ngene: FANCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3)","entity_name":"FANCA","entity_type":"gene"},{"created":"2020-04-19T20:54:58.642032+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAM20C was added\ngene: FAM20C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM20C were set to Raine syndrome, 259775 (3)","entity_name":"FAM20C","entity_type":"gene"},{"created":"2020-04-19T20:54:58.249725+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAM161A was added\ngene: FAM161A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, 606068 (3)","entity_name":"FAM161A","entity_type":"gene"},{"created":"2020-04-19T20:54:57.858346+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAM126A was added\ngene: FAM126A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating, 5, 610532 (3)","entity_name":"FAM126A","entity_type":"gene"},{"created":"2020-04-19T20:54:57.531317+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAH was added\ngene: FAH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3)","entity_name":"FAH","entity_type":"gene"},{"created":"2020-04-19T20:54:56.834562+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FA2H was added\ngene: FA2H was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, 612319 (3)","entity_name":"FA2H","entity_type":"gene"},{"created":"2020-04-19T20:54:56.427457+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: F9 was added\ngene: F9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: F9 were set to Hemophilia B, 306900 (3)","entity_name":"F9","entity_type":"gene"},{"created":"2020-04-19T20:54:55.970160+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: F8 was added\ngene: F8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: F8 were set to Hemophilia A, 306700 (3)","entity_name":"F8","entity_type":"gene"},{"created":"2020-04-19T20:54:55.641950+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: F7 was added\ngene: F7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F7 were set to Factor VII deficiency, 227500 (3)","entity_name":"F7","entity_type":"gene"},{"created":"2020-04-19T20:54:55.243618+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: F5 was added\ngene: F5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F5 were set to Factor V deficiency, 227400 (3)","entity_name":"F5","entity_type":"gene"},{"created":"2020-04-19T20:54:54.855979+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: F2 was added\ngene: F2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F2 were set to Dysprothrombinemia, 613679 (3)","entity_name":"F2","entity_type":"gene"},{"created":"2020-04-19T20:54:54.455793+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EXTL3 was added\ngene: EXTL3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-04-19T20:54:54.147740+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EXOSC8 was added\ngene: EXOSC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, 616081 (3)","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2020-04-19T20:54:53.745277+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EXOSC3 was added\ngene: EXOSC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 (3)","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2020-04-19T20:54:53.344258+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EVC2 was added\ngene: EVC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500 (3)","entity_name":"EVC2","entity_type":"gene"},{"created":"2020-04-19T20:54:52.966890+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EVC was added\ngene: EVC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500 (3)","entity_name":"EVC","entity_type":"gene"},{"created":"2020-04-19T20:54:52.629879+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ETHE1 was added\ngene: ETHE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3)","entity_name":"ETHE1","entity_type":"gene"},{"created":"2020-04-19T20:54:52.252053+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ETFDH was added\ngene: ETFDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3)","entity_name":"ETFDH","entity_type":"gene"},{"created":"2020-04-19T20:54:51.636703+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ETFB was added\ngene: ETFB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3)","entity_name":"ETFB","entity_type":"gene"},{"created":"2020-04-19T20:54:51.236494+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ETFA was added\ngene: ETFA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3)","entity_name":"ETFA","entity_type":"gene"},{"created":"2020-04-19T20:54:50.866692+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ESCO2 was added\ngene: ESCO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESCO2 were set to SC phocomelia syndrome, 269000 (3)","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-04-19T20:54:50.566807+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC8 was added\ngene: ERCC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, 216400 (3)","entity_name":"ERCC8","entity_type":"gene"},{"created":"2020-04-19T20:54:50.245917+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC6L2 was added\ngene: ERCC6L2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715 (3)","entity_name":"ERCC6L2","entity_type":"gene"},{"created":"2020-04-19T20:54:49.858712+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC6 was added\ngene: ERCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)","entity_name":"ERCC6","entity_type":"gene"},{"created":"2020-04-19T20:54:49.546837+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC5 was added\ngene: ERCC5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-04-19T20:54:49.245924+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC4 was added\ngene: ERCC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3)","entity_name":"ERCC4","entity_type":"gene"},{"created":"2020-04-19T20:54:48.923663+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC2 was added\ngene: ERCC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, 610756 (3)","entity_name":"ERCC2","entity_type":"gene"},{"created":"2020-04-19T20:54:48.550889+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERBB3 was added\ngene: ERBB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\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":"2020-04-19T20:54:48.255954+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EPM2A was added\ngene: EPM2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)","entity_name":"EPM2A","entity_type":"gene"},{"created":"2020-04-19T20:54:47.949165+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EPG5 was added\ngene: EPG5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPG5 were set to Vici syndrome, 242840 (3)","entity_name":"EPG5","entity_type":"gene"},{"created":"2020-04-19T20:54:47.648647+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EPCAM was added\ngene: EPCAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)","entity_name":"EPCAM","entity_type":"gene"},{"created":"2020-04-19T20:54:47.050565+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EOGT was added\ngene: EOGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EOGT were set to Adams-Oliver syndrome 4, 615297 (3)","entity_name":"EOGT","entity_type":"gene"},{"created":"2020-04-19T20:54:46.744407+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ENPP1 was added\ngene: ENPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)","entity_name":"ENPP1","entity_type":"gene"},{"created":"2020-04-19T20:54:46.423986+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EML1 was added\ngene: EML1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EML1 were set to Band heterotopia, 600348 (3), Autosomal recessive","entity_name":"EML1","entity_type":"gene"},{"created":"2020-04-19T20:54:46.040278+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EMG1 was added\ngene: EMG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180 (3)","entity_name":"EMG1","entity_type":"gene"},{"created":"2020-04-19T20:54:45.722678+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EMD was added\ngene: EMD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)","entity_name":"EMD","entity_type":"gene"},{"created":"2020-04-19T20:54:45.344980+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ELP2 was added\ngene: ELP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELP2 were set to Mental retardation, autosomal recessive 58, 617270 (3)","entity_name":"ELP2","entity_type":"gene"},{"created":"2020-04-19T20:54:44.950624+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ELP1 was added\ngene: ELP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 (3)","entity_name":"ELP1","entity_type":"gene"}]}