{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1845","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1843","results":[{"created":"2020-04-19T20:54:44.645582+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: ELAC2 was added\ngene: ELAC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELAC2 were set to Combined oxidative phosphorylation deficiency 17, 615440 (3)","entity_name":"ELAC2","entity_type":"gene"},{"created":"2020-04-19T20:54:44.249926+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: EIF2S3 was added\ngene: EIF2S3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EIF2S3 were set to MEHMO syndrome, 300148 (3), X-linked recessive","entity_name":"EIF2S3","entity_type":"gene"},{"created":"2020-04-19T20:54:43.933296+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: EIF2B5 was added\ngene: EIF2B5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2020-04-19T20:54:43.547645+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: EIF2B4 was added\ngene: EIF2B4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)","entity_name":"EIF2B4","entity_type":"gene"},{"created":"2020-04-19T20:54:43.244976+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: EIF2B3 was added\ngene: EIF2B3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)","entity_name":"EIF2B3","entity_type":"gene"},{"created":"2020-04-19T20:54:42.849511+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: EIF2B2 was added\ngene: EIF2B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)","entity_name":"EIF2B2","entity_type":"gene"},{"created":"2020-04-19T20:54:42.536856+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: EIF2B1 was added\ngene: EIF2B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2020-04-19T20:54:42.133444+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: EIF2AK4 was added\ngene: EIF2AK4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810 (3)","entity_name":"EIF2AK4","entity_type":"gene"},{"created":"2020-04-19T20:54:41.749401+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: EIF2AK3 was added\ngene: EIF2AK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)","entity_name":"EIF2AK3","entity_type":"gene"},{"created":"2020-04-19T20:54:41.455391+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: EFNB1 was added\ngene: EFNB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, 304110 (3)","entity_name":"EFNB1","entity_type":"gene"},{"created":"2020-04-19T20:54:41.136443+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: EFEMP2 was added\ngene: EFEMP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, 614437 (3)","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2020-04-19T20:54:40.436360+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: EDAR was added\ngene: EDAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)","entity_name":"EDAR","entity_type":"gene"},{"created":"2020-04-19T20:54:40.055335+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: EDA was added\ngene: EDA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EDA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)","entity_name":"EDA","entity_type":"gene"},{"created":"2020-04-19T20:54:39.742141+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: ECHS1 was added\ngene: ECHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-04-19T20:54:39.436617+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: ECEL1 was added\ngene: ECEL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, 615065 (3)","entity_name":"ECEL1","entity_type":"gene"},{"created":"2020-04-19T20:54:39.143972+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: EARS2 was added\ngene: EARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924 (3)","entity_name":"EARS2","entity_type":"gene"},{"created":"2020-04-19T20:54:38.838502+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: DYSF was added\ngene: DYSF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601 (3)","entity_name":"DYSF","entity_type":"gene"},{"created":"2020-04-19T20:54:38.451116+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: DYNC2LI1 was added\ngene: DYNC2LI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2020-04-19T20:54:38.149817+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: DYNC2H1 was added\ngene: DYNC2H1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2020-04-19T20:54:37.849395+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: DYM was added\ngene: DYM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3)","entity_name":"DYM","entity_type":"gene"},{"created":"2020-04-19T20:54:37.541332+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: DSTYK was added\ngene: DSTYK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750 (3), Autosomal recessive","entity_name":"DSTYK","entity_type":"gene"},{"created":"2020-04-19T20:54:37.142206+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: DSP was added\ngene: DSP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)","entity_name":"DSP","entity_type":"gene"},{"created":"2020-04-19T20:54:36.845209+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: DPH1 was added\ngene: DPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive","entity_name":"DPH1","entity_type":"gene"},{"created":"2020-04-19T20:54:36.527871+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: DPAGT1 was added\ngene: DPAGT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-04-19T20:54:36.244020+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: DONSON was added\ngene: DONSON was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive","entity_name":"DONSON","entity_type":"gene"},{"created":"2020-04-19T20:54:35.556705+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: DOLK was added\ngene: DOLK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, 610768 (3)","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-04-19T20:54:35.323611+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: DOK7 was added\ngene: DOK7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300 (3)","entity_name":"DOK7","entity_type":"gene"},{"created":"2020-04-19T20:54:34.947894+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: DOCK8 was added\ngene: DOCK8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)","entity_name":"DOCK8","entity_type":"gene"},{"created":"2020-04-19T20:54:34.662569+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: DOCK6 was added\ngene: DOCK6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2, 614219 (3)","entity_name":"DOCK6","entity_type":"gene"},{"created":"2020-04-19T20:54:34.354585+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: DOCK2 was added\ngene: DOCK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK2 were set to Immunodeficiency 40, 616433 (3)","entity_name":"DOCK2","entity_type":"gene"},{"created":"2020-04-19T20:54:34.043427+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: DNMT3B was added\ngene: DNMT3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2020-04-19T20:54:33.742346+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: DNAJC6 was added\ngene: DNAJC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC6 were set to Parkinson disease 19, juvenile-onset, 615528 (3)","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2020-04-19T20:54:33.355365+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: DNAJC21 was added\ngene: DNAJC21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2020-04-19T20:54:33.031999+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: DNAJC19 was added\ngene: DNAJC19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198 (3)","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2020-04-19T20:54:32.721368+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: DNAJC12 was added\ngene: DNAJC12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2020-04-19T20:54:32.357774+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: DNAI2 was added\ngene: DNAI2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)","entity_name":"DNAI2","entity_type":"gene"},{"created":"2020-04-19T20:54:32.055903+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: DNAI1 was added\ngene: DNAI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)","entity_name":"DNAI1","entity_type":"gene"},{"created":"2020-04-19T20:54:31.749621+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: DNAH5 was added\ngene: DNAH5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)","entity_name":"DNAH5","entity_type":"gene"},{"created":"2020-04-19T20:54:31.455179+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: DNAH11 was added\ngene: DNAH11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)","entity_name":"DNAH11","entity_type":"gene"},{"created":"2020-04-19T20:54:31.145859+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: DNAAF5 was added\ngene: DNAAF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF5 were set to Ciliary dyskinesia, primary, 18, 614874 (3)","entity_name":"DNAAF5","entity_type":"gene"},{"created":"2020-04-19T20:54:30.544096+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: DNAAF4 was added\ngene: DNAAF4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF4 were set to Ciliary dyskinesia, primary, 25, 615482 (3)","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-04-19T20:54:30.229583+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: DNAAF3 was added\ngene: DNAAF3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF3 were set to Ciliary dyskinesia, primary, 2, 606763 (3)","entity_name":"DNAAF3","entity_type":"gene"},{"created":"2020-04-19T20:54:29.938895+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: DNAAF1 was added\ngene: DNAAF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF1 were set to Ciliary dyskinesia, primary, 13, 613193 (3)","entity_name":"DNAAF1","entity_type":"gene"},{"created":"2020-04-19T20:54:29.631353+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: DMD was added\ngene: DMD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3)","entity_name":"DMD","entity_type":"gene"},{"created":"2020-04-19T20:54:29.352109+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: DLL3 was added\ngene: DLL3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)","entity_name":"DLL3","entity_type":"gene"},{"created":"2020-04-19T20:54:29.025673+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: DLG3 was added\ngene: DLG3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3)","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-04-19T20:54:28.671032+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: DLD was added\ngene: DLD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLD were set to Dihydrolipoamide dehydrogenase deficiency, 246900 (3)","entity_name":"DLD","entity_type":"gene"},{"created":"2020-04-19T20:54:28.335314+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: DKC1 was added\ngene: DKC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, 305000 (3)","entity_name":"DKC1","entity_type":"gene"},{"created":"2020-04-19T20:54:28.040569+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: DIS3L2 was added\ngene: DIS3L2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000 (3)","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2020-04-19T20:54:27.746260+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: DHODH was added\ngene: DHODH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHODH were set to Miller syndrome, 263750 (3)","entity_name":"DHODH","entity_type":"gene"},{"created":"2020-04-19T20:54:27.437863+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: DHDDS was added\ngene: DHDDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861 (3)","entity_name":"DHDDS","entity_type":"gene"},{"created":"2020-04-19T20:54:27.142715+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: DHCR7 was added\ngene: DHCR7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 (3)","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-04-19T20:54:26.849257+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: DHCR24 was added\ngene: DHCR24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR24 were set to Desmosterolosis, 602398 (3)","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-04-19T20:54:26.567981+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: DGUOK was added\ngene: DGUOK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)","entity_name":"DGUOK","entity_type":"gene"},{"created":"2020-04-19T20:54:26.329900+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: DGKE was added\ngene: DGKE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGKE were set to Nephrotic syndrome, type 7, 615008 (3)","entity_name":"DGKE","entity_type":"gene"},{"created":"2020-04-19T20:54:25.727253+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: DGAT1 was added\ngene: DGAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type","entity_name":"DGAT1","entity_type":"gene"},{"created":"2020-04-19T20:54:25.444275+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: DENND5A was added\ngene: DENND5A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive","entity_name":"DENND5A","entity_type":"gene"},{"created":"2020-04-19T20:54:25.142774+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: DDX59 was added\ngene: DDX59 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300 (3)","entity_name":"DDX59","entity_type":"gene"},{"created":"2020-04-19T20:54:24.845686+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: DDX11 was added\ngene: DDX11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3)","entity_name":"DDX11","entity_type":"gene"},{"created":"2020-04-19T20:54:24.548626+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: DDR2 was added\ngene: DDR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)","entity_name":"DDR2","entity_type":"gene"},{"created":"2020-04-19T20:54:24.234619+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: DDHD2 was added\ngene: DDHD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, 615033 (3)","entity_name":"DDHD2","entity_type":"gene"},{"created":"2020-04-19T20:54:23.932288+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: DDC was added\ngene: DDC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643 (3)","entity_name":"DDC","entity_type":"gene"},{"created":"2020-04-19T20:54:23.554882+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: DCX was added\ngene: DCX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3)","entity_name":"DCX","entity_type":"gene"},{"created":"2020-04-19T20:54:23.250008+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: DCLRE1C was added\ngene: DCLRE1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3)","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2020-04-19T20:54:22.945839+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: DCHS1 was added\ngene: DCHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390 (3)","entity_name":"DCHS1","entity_type":"gene"},{"created":"2020-04-19T20:54:22.650973+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: DCDC2 was added\ngene: DCDC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCDC2 were set to Nephronophthisis 19, 616217 (3)","entity_name":"DCDC2","entity_type":"gene"},{"created":"2020-04-19T20:54:22.345489+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: DCAF17 was added\ngene: DCAF17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, 241080 (3)","entity_name":"DCAF17","entity_type":"gene"},{"created":"2020-04-19T20:54:22.046578+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: DBT was added\ngene: DBT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DBT were set to Maple syrup urine disease, type II, 248600 (3)","entity_name":"DBT","entity_type":"gene"},{"created":"2020-04-19T20:54:21.740370+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: DARS2 was added\ngene: DARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)","entity_name":"DARS2","entity_type":"gene"},{"created":"2020-04-19T20:54:21.444035+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: DARS was added\ngene: DARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)","entity_name":"DARS","entity_type":"gene"},{"created":"2020-04-19T20:54:21.164987+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: D2HGDH was added\ngene: D2HGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721 (3)","entity_name":"D2HGDH","entity_type":"gene"},{"created":"2020-04-19T20:54:20.773035+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: CYP7B1 was added\ngene: CYP7B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, 613812 (3)","entity_name":"CYP7B1","entity_type":"gene"},{"created":"2020-04-19T20:54:20.547509+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: CYP4F22 was added\ngene: CYP4F22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 (3)","entity_name":"CYP4F22","entity_type":"gene"},{"created":"2020-04-19T20:54:20.246769+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: CYP2U1 was added\ngene: CYP2U1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030 (3)","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2020-04-19T20:54:19.936641+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: CYP27A1 was added\ngene: CYP27A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 (3)","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2020-04-19T20:54:19.644674+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: CYP1B1 was added\ngene: CYP1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP1B1 were set to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)","entity_name":"CYP1B1","entity_type":"gene"},{"created":"2020-04-19T20:54:19.333563+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: CYP17A1 was added\ngene: CYP17A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated, 202110 (3)","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2020-04-19T20:54:19.045029+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: CYP11B2 was added\ngene: CYP11B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2020-04-19T20:54:18.765966+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: CYP11A1 was added\ngene: CYP11A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2020-04-19T20:54:18.531457+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: CYBB was added\ngene: CYBB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400 (3)","entity_name":"CYBB","entity_type":"gene"},{"created":"2020-04-19T20:54:18.243364+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: CYBA was added\ngene: CYBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)","entity_name":"CYBA","entity_type":"gene"},{"created":"2020-04-19T20:54:17.940363+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: CYB5R3 was added\ngene: CYB5R3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYB5R3 were set to Methemoglobinemia, type I, 250800 (3)","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2020-04-19T20:54:17.647752+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: CWC27 was added\ngene: CWC27 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive","entity_name":"CWC27","entity_type":"gene"},{"created":"2020-04-19T20:54:17.336271+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: CUL7 was added\ngene: CUL7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CUL7 were set to 3-M syndrome 1, 273750 (3)","entity_name":"CUL7","entity_type":"gene"},{"created":"2020-04-19T20:54:17.037500+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: CUL4B was added\ngene: CUL4B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)","entity_name":"CUL4B","entity_type":"gene"},{"created":"2020-04-19T20:54:16.738663+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: CTSK was added\ngene: CTSK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSK were set to Pycnodysostosis, 265800 (3)","entity_name":"CTSK","entity_type":"gene"},{"created":"2020-04-19T20:54:16.429695+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: CTSF was added\ngene: CTSF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)","entity_name":"CTSF","entity_type":"gene"},{"created":"2020-04-19T20:54:16.145683+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: CTSD was added\ngene: CTSD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127 (3)","entity_name":"CTSD","entity_type":"gene"},{"created":"2020-04-19T20:54:15.863946+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: CTSC was added\ngene: CTSC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, 245000 (3)","entity_name":"CTSC","entity_type":"gene"},{"created":"2020-04-19T20:54:15.548866+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: CTSA was added\ngene: CTSA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSA were set to Galactosialidosis, 256540 (3)","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-04-19T20:54:15.267643+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: CTPS1 was added\ngene: CTPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTPS1 were set to Immunodeficiency 24, 615897 (3)","entity_name":"CTPS1","entity_type":"gene"},{"created":"2020-04-19T20:54:15.049417+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: CTNS was added\ngene: CTNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTNS were set to Cystinosis, nephropathic, 219800 (3)","entity_name":"CTNS","entity_type":"gene"},{"created":"2020-04-19T20:54:14.752955+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: CTC1 was added\ngene: CTC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)","entity_name":"CTC1","entity_type":"gene"},{"created":"2020-04-19T20:54:14.453082+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: CSTB was added\ngene: CSTB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)","entity_name":"CSTB","entity_type":"gene"},{"created":"2020-04-19T20:54:13.946179+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: CSPP1 was added\ngene: CSPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636 (3)","entity_name":"CSPP1","entity_type":"gene"},{"created":"2020-04-19T20:54:13.665877+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: CRTAP was added\ngene: CRTAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII, 610682 (3)","entity_name":"CRTAP","entity_type":"gene"},{"created":"2020-04-19T20:54:13.353695+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: ISPD was added\ngene: ISPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-04-19T20:54:13.058707+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: CRLF1 was added\ngene: CRLF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1, 272430 (3)","entity_name":"CRLF1","entity_type":"gene"},{"created":"2020-04-19T20:54:12.848840+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: CRB2 was added\ngene: CRB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease, 219730 (3)","entity_name":"CRB2","entity_type":"gene"},{"created":"2020-04-19T20:54:12.621403+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: CRB1 was added\ngene: CRB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRB1 were set to Leber congenital amaurosis 8, 613835 (3)","entity_name":"CRB1","entity_type":"gene"}]}