{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1837","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1835","results":[{"created":"2020-04-19T21:04:00.644875+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: TMEM138 was added\ngene: TMEM138 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM138 were set to Joubert syndrome 16, 614465 (3)","entity_name":"TMEM138","entity_type":"gene"},{"created":"2020-04-19T21:03:59.447948+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: TMEM126A was added\ngene: TMEM126A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM126A were set to Optic atrophy 7, 612989 (3)","entity_name":"TMEM126A","entity_type":"gene"},{"created":"2020-04-19T21:03:58.535342+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: TMEM107 was added\ngene: TMEM107 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM107 were set to Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive","entity_name":"TMEM107","entity_type":"gene"},{"created":"2020-04-19T21:03:57.342670+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: TMCO1 was added\ngene: TMCO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)","entity_name":"TMCO1","entity_type":"gene"},{"created":"2020-04-19T21:03:56.442004+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: TK2 was added\ngene: TK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)","entity_name":"TK2","entity_type":"gene"},{"created":"2020-04-19T21:03:55.552617+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: TJP2 was added\ngene: TJP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TJP2 were set to Cholestasis, progressive familial intrahepatic 4, 615878 (3)","entity_name":"TJP2","entity_type":"gene"},{"created":"2020-04-19T21:03:54.446780+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: TIMM8A was added\ngene: TIMM8A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TIMM8A were set to Jensen syndrome, 311150 (3)","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-04-19T21:03:53.637234+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: THOC2 was added\ngene: THOC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive","entity_name":"THOC2","entity_type":"gene"},{"created":"2020-04-19T21:03:52.447627+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: TH was added\ngene: TH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TH were set to Segawa syndrome, recessive, 605407 (3)","entity_name":"TH","entity_type":"gene"},{"created":"2020-04-19T21:03:51.530493+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: TGM1 was added\ngene: TGM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300 (3)","entity_name":"TGM1","entity_type":"gene"},{"created":"2020-04-19T21:03:50.559470+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: TF was added\ngene: TF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TF were set to Atransferrinemia, 209300 (3)","entity_name":"TF","entity_type":"gene"},{"created":"2020-04-19T21:03:49.346499+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: TELO2 was added\ngene: TELO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive","entity_name":"TELO2","entity_type":"gene"},{"created":"2020-04-19T21:03:48.449546+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: TDRD7 was added\ngene: TDRD7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TDRD7 were set to Cataract 36, 613887 (3)","entity_name":"TDRD7","entity_type":"gene"},{"created":"2020-04-19T21:03:47.143586+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: TCTN3 was added\ngene: TCTN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN3 were set to Joubert syndrome 18, 614815 (3)","entity_name":"TCTN3","entity_type":"gene"},{"created":"2020-04-19T21:03:46.240728+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: TCTN2 was added\ngene: TCTN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN2 were set to Joubert syndrome 24","entity_name":"TCTN2","entity_type":"gene"},{"created":"2020-04-19T21:03:45.344428+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: TCN2 was added\ngene: TCN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350 (3)","entity_name":"TCN2","entity_type":"gene"},{"created":"2020-04-19T21:03:44.140512+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: TCIRG1 was added\ngene: TCIRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, 259700 (3)","entity_name":"TCIRG1","entity_type":"gene"},{"created":"2020-04-19T21:03:43.164154+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: TCAP was added\ngene: TCAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954 (3)","entity_name":"TCAP","entity_type":"gene"},{"created":"2020-04-19T21:03:42.261080+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: TBX19 was added\ngene: TBX19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, 201400 (3)","entity_name":"TBX19","entity_type":"gene"},{"created":"2020-04-19T21:03:41.234661+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: TBCK was added\ngene: TBCK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCK were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive","entity_name":"TBCK","entity_type":"gene"},{"created":"2020-04-19T21:03:40.042324+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: TBCE was added\ngene: TBCE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCE were set to Kenny-Caffey syndrome-1, 244460 (3)","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-04-19T21:03:38.845807+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: TBCD was added\ngene: TBCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-04-19T21:03:37.854456+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: TBC1D24 was added\ngene: TBC1D24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3)","entity_name":"TBC1D24","entity_type":"gene"},{"created":"2020-04-19T21:03:37.044229+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: TBC1D23 was added\ngene: TBC1D23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive","entity_name":"TBC1D23","entity_type":"gene"},{"created":"2020-04-19T21:03:35.848564+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: TAZ was added\ngene: TAZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TAZ were set to Barth syndrome, 302060 (3)","entity_name":"TAZ","entity_type":"gene"},{"created":"2020-04-19T21:03:35.040511+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: TAP1 was added\ngene: TAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TAP1 were set to Bare lymphocyte syndrome, type I, 604571 (3)","entity_name":"TAP1","entity_type":"gene"},{"created":"2020-04-19T21:03:33.854292+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: TANGO2 was added\ngene: TANGO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration","entity_name":"TANGO2","entity_type":"gene"},{"created":"2020-04-19T21:03:33.075571+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: TALDO1 was added\ngene: TALDO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TALDO1 were set to Transaldolase deficiency, 606003 (3)","entity_name":"TALDO1","entity_type":"gene"},{"created":"2020-04-19T21:03:32.262470+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: SYP was added\ngene: SYP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SYP were set to Mental retardation, X-linked 96, 300802 (3)","entity_name":"SYP","entity_type":"gene"},{"created":"2020-04-19T21:03:30.967334+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: SYN1 was added\ngene: SYN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)","entity_name":"SYN1","entity_type":"gene"},{"created":"2020-04-19T21:03:30.064108+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: SURF1 was added\ngene: SURF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency, 256000 (3)","entity_name":"SURF1","entity_type":"gene"},{"created":"2020-04-19T21:03:29.164642+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: SUOX was added\ngene: SUOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUOX were set to Sulfite oxidase deficiency, 272300 (3)","entity_name":"SUOX","entity_type":"gene"},{"created":"2020-04-19T21:03:28.046919+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: SUMF1 was added\ngene: SUMF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, 272200 (3)","entity_name":"SUMF1","entity_type":"gene"},{"created":"2020-04-19T21:03:27.150070+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: SUCLG1 was added\ngene: SUCLG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-04-19T21:03:25.841349+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: SUCLA2 was added\ngene: SUCLA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2020-04-19T21:03:24.942952+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: STXBP2 was added\ngene: STXBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)","entity_name":"STXBP2","entity_type":"gene"},{"created":"2020-04-19T21:03:24.046367+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: STX11 was added\ngene: STX11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)","entity_name":"STX11","entity_type":"gene"},{"created":"2020-04-19T21:03:22.846111+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: STUB1 was added\ngene: STUB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)","entity_name":"STUB1","entity_type":"gene"},{"created":"2020-04-19T21:03:21.936780+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: STRADA was added\ngene: STRADA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-04-19T21:03:21.048109+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: STRA6 was added\ngene: STRA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, 601186 (3)","entity_name":"STRA6","entity_type":"gene"},{"created":"2020-04-19T21:03:19.924010+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: STIM1 was added\ngene: STIM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783 (3)","entity_name":"STIM1","entity_type":"gene"},{"created":"2020-04-19T21:03:19.070178+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: STIL was added\ngene: STIL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STIL were set to Microcephaly 7, primary, autosomal recessive, 612703 (3)","entity_name":"STIL","entity_type":"gene"},{"created":"2020-04-19T21:03:17.848102+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: STAT1 was added\ngene: STAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)","entity_name":"STAT1","entity_type":"gene"},{"created":"2020-04-19T21:03:16.854363+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: STAR was added\ngene: STAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAR were set to Lipoid adrenal hyperplasia, 201710 (3)","entity_name":"STAR","entity_type":"gene"},{"created":"2020-04-19T21:03:15.919967+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: STAMBP was added\ngene: STAMBP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, 614261 (3)","entity_name":"STAMBP","entity_type":"gene"},{"created":"2020-04-19T21:03:14.727722+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: ST3GAL5 was added\ngene: ST3GAL5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive","entity_name":"ST3GAL5","entity_type":"gene"},{"created":"2020-04-19T21:03:13.928007+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: SSR4 was added\ngene: SSR4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive","entity_name":"SSR4","entity_type":"gene"},{"created":"2020-04-19T21:03:12.655552+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: SRD5A3 was added\ngene: SRD5A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379 (3)","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-04-19T21:03:11.732860+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: SQSTM1 was added\ngene: SQSTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2020-04-19T21:03:10.834116+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: SPR was added\ngene: SPR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)","entity_name":"SPR","entity_type":"gene"},{"created":"2020-04-19T21:03:09.722201+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: SPNS1 was added\ngene: SPNS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPNS1 were set to Immunodeficiency 52, 617514 (3), Autosomal recessive","entity_name":"SPNS1","entity_type":"gene"},{"created":"2020-04-19T21:03:08.763579+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: SPINT2 was added\ngene: SPINT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)","entity_name":"SPINT2","entity_type":"gene"},{"created":"2020-04-19T21:03:07.847730+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: SPINK5 was added\ngene: SPINK5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 (3)","entity_name":"SPINK5","entity_type":"gene"},{"created":"2020-04-19T21:03:06.629873+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: SPG11 was added\ngene: SPG11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, 604360 (3)","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-04-19T21:03:05.745096+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: SPATA7 was added\ngene: SPATA7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPATA7 were set to Leber congenital amaurosis 3, 604232 (3)","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-04-19T21:03:04.454604+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: SPATA5 was added\ngene: SPATA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive","entity_name":"SPATA5","entity_type":"gene"},{"created":"2020-04-19T21:03:03.648829+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: SPART was added\ngene: SPART was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPART were set to Troyer syndrome, 275900 (3)","entity_name":"SPART","entity_type":"gene"},{"created":"2020-04-19T21:03:02.848243+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: SPAG1 was added\ngene: SPAG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPAG1 were set to Ciliary dyskinesia, primary, 28, 615505 (3)","entity_name":"SPAG1","entity_type":"gene"},{"created":"2020-04-19T21:03:01.645309+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: SP110 was added\ngene: SP110 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency, 235550 (3)","entity_name":"SP110","entity_type":"gene"},{"created":"2020-04-19T21:03:00.730134+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: SOST was added\ngene: SOST was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SOST were set to Sclerosteosis 1, 269500 (3)","entity_name":"SOST","entity_type":"gene"},{"created":"2020-04-19T21:02:59.728897+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: SNX14 was added\ngene: SNX14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)","entity_name":"SNX14","entity_type":"gene"},{"created":"2020-04-19T21:02:58.463022+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: SNORD118 was added\ngene: SNORD118 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive","entity_name":"SNORD118","entity_type":"gene"},{"created":"2020-04-19T21:02:57.649465+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: SNAP29 was added\ngene: SNAP29 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-04-19T21:02:56.538224+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: SMS was added\ngene: SMS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)","entity_name":"SMS","entity_type":"gene"},{"created":"2020-04-19T21:02:55.745589+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: SMPD1 was added\ngene: SMPD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)","entity_name":"SMPD1","entity_type":"gene"},{"created":"2020-04-19T21:02:54.840773+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: SMN1 was added\ngene: SMN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300 (3)","entity_name":"SMN1","entity_type":"gene"},{"created":"2020-04-19T21:02:53.661013+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: SMARCAL1 was added\ngene: SMARCAL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia, 242900 (3)","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2020-04-19T21:02:52.848045+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: SLC9A6 was added\ngene: SLC9A6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-04-19T21:02:51.949165+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: SLC9A3 was added\ngene: SLC9A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC9A3 were set to Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2020-04-19T21:02:50.746705+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: SLC7A7 was added\ngene: SLC7A7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2020-04-19T21:02:49.852386+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: SLC6A8 was added\ngene: SLC6A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)","entity_name":"SLC6A8","entity_type":"gene"},{"created":"2020-04-19T21:02:48.745400+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: SLC6A5 was added\ngene: SLC6A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2020-04-19T21:02:47.847186+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: SLC6A3 was added\ngene: SLC6A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3)","entity_name":"SLC6A3","entity_type":"gene"},{"created":"2020-04-19T21:02:46.953649+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: SLC5A7 was added\ngene: SLC5A7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2020-04-19T21:02:45.750544+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: SLC52A3 was added\ngene: SLC52A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2020-04-19T21:02:44.832756+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: SLC52A2 was added\ngene: SLC52A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3)","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-04-19T21:02:43.921403+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: SLC4A4 was added\ngene: SLC4A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)","entity_name":"SLC4A4","entity_type":"gene"},{"created":"2020-04-19T21:02:42.754565+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: SLC4A1 was added\ngene: SLC4A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR, 611590 (3)","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2020-04-19T21:02:41.938119+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: SLC46A1 was added\ngene: SLC46A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, 229050 (3)","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2020-04-19T21:02:40.831135+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: SLC45A2 was added\ngene: SLC45A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC45A2 were set to Albinism, oculocutaneous, type IV, 606574 (3)","entity_name":"SLC45A2","entity_type":"gene"},{"created":"2020-04-19T21:02:40.038018+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: SLC39A8 was added\ngene: SLC39A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2020-04-19T21:02:39.240333+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: SLC39A4 was added\ngene: SLC39A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3)","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2020-04-19T21:02:38.147012+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: SLC39A14 was added\ngene: SLC39A14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2020-04-19T21:02:37.342556+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: SLC38A8 was added\ngene: SLC38A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-04-19T21:02:36.546351+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: SLC37A4 was added\ngene: SLC37A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, 232220 (3)","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2020-04-19T21:02:35.453569+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: SLC35D1 was added\ngene: SLC35D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, 269250 (3)","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-04-19T21:02:35.061775+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.74","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: None; Publications: 26423925; Phenotypes: Complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLC4","entity_type":"gene"},{"created":"2020-04-19T21:02:34.652607+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: SLC35A3 was added\ngene: SLC35A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35A3 were set to ?Arthrogryposis, mental retardation, and seizures","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-04-19T21:02:33.848966+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: SLC33A1 was added\ngene: SLC33A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2020-04-19T21:02:32.733210+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: SLC30A10 was added\ngene: SLC30A10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3)","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2020-04-19T21:02:31.947435+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: SLC2A2 was added\ngene: SLC2A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, 227810 (3)","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-04-19T21:02:30.827956+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: SLC2A10 was added\ngene: SLC2A10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050 (3)","entity_name":"SLC2A10","entity_type":"gene"},{"created":"2020-04-19T21:02:29.950995+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: SLC29A3 was added\ngene: SLC29A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2020-04-19T21:02:29.145125+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: SLC26A3 was added\ngene: SLC26A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A3 were set to Diarrhea 1, secretory chloride, congenital, 214700 (3)","entity_name":"SLC26A3","entity_type":"gene"},{"created":"2020-04-19T21:02:27.947278+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: SLC26A2 was added\ngene: SLC26A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, 600972 (3)","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2020-04-19T21:02:27.151147+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: SLC25A46 was added\ngene: SLC25A46 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-04-19T21:02:26.347731+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: SLC25A38 was added\ngene: SLC25A38 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)","entity_name":"SLC25A38","entity_type":"gene"},{"created":"2020-04-19T21:02:25.148526+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: SLC25A22 was added\ngene: SLC25A22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304 (3)","entity_name":"SLC25A22","entity_type":"gene"},{"created":"2020-04-19T21:02:24.335808+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: SLC25A19 was added\ngene: SLC25A19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2020-04-19T21:02:23.451147+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: SLC25A15 was added\ngene: SLC25A15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)","entity_name":"SLC25A15","entity_type":"gene"}]}