{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=810","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=808","results":[{"created":"2022-06-02T06:50:53.713596+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHKB were changed from  to Muscular dystrophy, congenital, megaconial type, MIM# 602541","entity_name":"CHKB","entity_type":"gene"},{"created":"2022-06-02T06:50:19.593694+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHKB were set to ","entity_name":"CHKB","entity_type":"gene"},{"created":"2022-06-02T06:49:47.468546+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHKB","entity_type":"gene"},{"created":"2022-06-02T06:48:48.954053+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTA1 as ready","entity_name":"ACTA1","entity_type":"gene"},{"created":"2022-06-02T06:48:48.941605+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acta1 has been classified as Green List (High Evidence).","entity_name":"ACTA1","entity_type":"gene"},{"created":"2022-06-02T06:48:45.140805+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTA1 were changed from  to Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800","entity_name":"ACTA1","entity_type":"gene"},{"created":"2022-06-02T06:48:13.467889+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTA1 were set to ","entity_name":"ACTA1","entity_type":"gene"},{"created":"2022-06-02T06:47:40.823353+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTA1","entity_type":"gene"},{"created":"2022-06-02T06:47:08.703294+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTA1","entity_type":"gene"},{"created":"2022-06-02T06:26:42.876164+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4811","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN2 as ready","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-02T06:26:42.863221+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4811","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn2 has been classified as Green List (High Evidence).","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-02T06:26:38.754833+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4811","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN2 were changed from  to Joubert syndrome 24, MIM# 616654 MONDO:0014724","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-02T06:26:04.335646+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4810","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN2 were set to ","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-02T06:25:28.540837+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4809","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-02T06:24:51.786307+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4808","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21565611, 25118024; Phenotypes: Joubert syndrome 24, MIM# 616654 MONDO:0014724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-02T06:22:01.638732+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN2 as ready","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-02T06:22:01.626087+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn2 has been classified as Green List (High Evidence).","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-02T06:21:58.799729+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN2 were changed from  to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-02T06:21:28.596526+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN2 were set to ","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-02T06:20:50.334787+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2022-06-01T19:27:47.921136+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKP1 as ready","entity_name":"PKP1","entity_type":"gene"},{"created":"2022-06-01T19:27:47.899604+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkp1 has been classified as Green List (High Evidence).","entity_name":"PKP1","entity_type":"gene"},{"created":"2022-06-01T19:27:44.659439+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKP1 were changed from  to Ectodermal dysplasia/skin fragility syndrome, MIM# 604536","entity_name":"PKP1","entity_type":"gene"},{"created":"2022-06-01T19:27:12.086972+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PKP1 were set to ","entity_name":"PKP1","entity_type":"gene"},{"created":"2022-06-01T19:26:43.256525+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PKP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PKP1","entity_type":"gene"},{"created":"2022-06-01T19:26:04.322400+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073657, 16781314, 11994137, 10951270, 32346906; Phenotypes: Ectodermal dysplasia/skin fragility syndrome, MIM# 604536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PKP1","entity_type":"gene"},{"created":"2022-06-01T19:24:02.083773+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSG4 as ready","entity_name":"DSG4","entity_type":"gene"},{"created":"2022-06-01T19:24:02.009211+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsg4 has been classified as Green List (High Evidence).","entity_name":"DSG4","entity_type":"gene"},{"created":"2022-06-01T19:23:56.865979+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSG4 were changed from  to Hypotrichosis 6, MIM#607903","entity_name":"DSG4","entity_type":"gene"},{"created":"2022-06-01T19:23:26.160210+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSG4 were set to ","entity_name":"DSG4","entity_type":"gene"},{"created":"2022-06-01T19:22:52.625071+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DSG4","entity_type":"gene"},{"created":"2022-06-01T19:22:18.526247+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DSG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12705872, 16439973, 16543896, 16575393, 17392831; Phenotypes: Hypotrichosis 6, MIM#607903; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DSG4","entity_type":"gene"},{"created":"2022-06-01T19:19:57.316704+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP2A2 as ready","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2022-06-01T19:19:57.301411+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Multiple reports of somatic mosaicism.","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2022-06-01T19:19:57.267365+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp2a2 has been classified as Green List (High Evidence).","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2022-06-01T19:19:46.468826+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: ATP2A2.","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2022-06-01T19:19:02.046521+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2A2 were changed from  to Darier disease, MIM# 124200; Acrokeratosis verruciformis, MIM# 101900","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2022-06-01T19:18:31.188683+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP2A2 were set to ","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2022-06-01T19:17:58.614879+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP2A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2022-06-01T19:17:27.785466+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP2A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2022-06-01T19:16:46.566747+10:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10441325, 12072062, 10970890, 11389134; Phenotypes: Darier disease, MIM# 124200, Acrokeratosis verruciformis, MIM# 101900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP2A2","entity_type":"gene"},{"created":"2022-06-01T18:38:10.703984+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2022-06-01T18:36:53.791660+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA5 as ready","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-01T18:36:53.779563+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna5 has been classified as Amber List (Moderate Evidence).","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-01T18:36:49.934720+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNA5 were changed from  to Atrial fibrillation, familial, 7, MIM# 612240","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-01T18:36:21.221615+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNA5 were set to ","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-01T18:35:49.751491+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-01T18:35:21.118697+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNA5 as Amber List (moderate evidence)","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-01T18:35:21.106375+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna5 has been classified as Amber List (Moderate Evidence).","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-01T18:34:50.605262+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16772329, 19343045, 23264583; Phenotypes: Atrial fibrillation, familial, 7, MIM# 612240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-01T17:26:42.434704+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APOE as Amber List (moderate evidence)","entity_name":"APOE","entity_type":"gene"},{"created":"2022-06-01T17:26:42.423512+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apoe has been classified as Amber List (Moderate Evidence).","entity_name":"APOE","entity_type":"gene"},{"created":"2022-06-01T17:26:02.451952+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: E4 allele association with late-onset AD.; to: E4 allele association with late-onset AD. Susceptibility allele.","entity_name":"APOE","entity_type":"gene"},{"created":"2022-06-01T17:25:47.947373+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: APOE: Changed rating: AMBER","entity_name":"APOE","entity_type":"gene"},{"created":"2022-06-01T17:23:59.998958+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4808","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM13 were changed from intellectual disability, MONDO:0001071, PRDM13-associated; Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; congenital hypogonadotropic hypogonadism, MONDO:0015770 to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-01T17:23:22.012357+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4807","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-01T17:22:46.796297+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to Chorioretinal atrophy, progressive bifocal, MIM# 600790; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-01T17:21:39.505392+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM13 were changed from congenital hypogonadotropic hypogonadism, MONDO:0015770 to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-01T17:20:59.599171+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRDM13: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-01T17:20:31.300153+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-01T17:20:13.940526+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM13 were changed from Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Intellectual disability (MONDO:0001071) to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-01T17:19:35.974446+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-01T17:18:55.810912+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4807","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HIST1H4J were changed from microcephaly; intellectual disability; dysmorphic features to Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759","entity_name":"HIST1H4J","entity_type":"gene"},{"created":"2022-06-01T17:18:15.489371+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4806","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HIST1H4J: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HIST1H4J","entity_type":"gene"},{"created":"2022-06-01T17:17:46.783815+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HIST1H4J were changed from microcephaly; intellectual disability; dysmorphic features to Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759","entity_name":"HIST1H4J","entity_type":"gene"},{"created":"2022-06-01T17:17:17.193537+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HIST1H4J: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759","entity_name":"HIST1H4J","entity_type":"gene"},{"created":"2022-06-01T17:16:16.080479+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758","entity_name":"HIST1H4C","entity_type":"gene"},{"created":"2022-06-01T17:15:59.839669+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HIST1H4C: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758","entity_name":"HIST1H4C","entity_type":"gene"},{"created":"2022-06-01T17:15:39.960463+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758","entity_name":"HIST1H4C","entity_type":"gene"},{"created":"2022-06-01T17:15:00.513149+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HIST1H4C: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758","entity_name":"HIST1H4C","entity_type":"gene"},{"created":"2022-06-01T16:53:13.290119+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF469 was added\ngene: ZNF469 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1, MIM #229200","entity_name":"ZNF469","entity_type":"gene"},{"created":"2022-06-01T16:53:12.604353+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YIF1B was added\ngene: YIF1B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIF1B were set to 32006098; 26077767\nPhenotypes for gene: YIF1B were set to Abnormality of movement; Seizures; Failure to thrive; Spasticity; Central hypotonia; Intellectual disability; Global developmental delay; Microcephaly","entity_name":"YIF1B","entity_type":"gene"},{"created":"2022-06-01T16:53:12.111945+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UQCRC2 was added\ngene: UQCRC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)","entity_name":"UQCRC2","entity_type":"gene"},{"created":"2022-06-01T16:53:11.415952+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UPB1 was added\ngene: UPB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UPB1 were set to 24526388\nPhenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, MIM #613161","entity_name":"UPB1","entity_type":"gene"},{"created":"2022-06-01T16:53:10.993149+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBA8 was added\ngene: TUBA8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia, 613180 (3)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2022-06-01T16:53:10.314582+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TSPYL1 was added\ngene: TSPYL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)","entity_name":"TSPYL1","entity_type":"gene"},{"created":"2022-06-01T16:53:09.810380+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRAPPC6B was added\ngene: TRAPPC6B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC6B were set to 28397838; 28626029; 31687267\nPhenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862","entity_name":"TRAPPC6B","entity_type":"gene"},{"created":"2022-06-01T16:53:09.122508+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRAPPC12 was added\ngene: TRAPPC12 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC12 were set to 32369837; 28777934\nPhenotypes for gene: TRAPPC12 were set to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669","entity_name":"TRAPPC12","entity_type":"gene"},{"created":"2022-06-01T16:53:08.709449+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TPRKB was added\ngene: TPRKB was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPRKB were set to 30053862; 28805828\nPhenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731","entity_name":"TPRKB","entity_type":"gene"},{"created":"2022-06-01T16:53:08.200229+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TP53RK was added\ngene: TP53RK was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP53RK were set to 30053862; 28805828\nPhenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4, MIM# 617730","entity_name":"TP53RK","entity_type":"gene"},{"created":"2022-06-01T16:53:07.506866+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBX22 was added\ngene: TBX22 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red\nMode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, MIM #303400","entity_name":"TBX22","entity_type":"gene"},{"created":"2022-06-01T16:53:07.019963+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBC1D20 was added\ngene: TBC1D20 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list\nMode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D20 were set to 32162791; 24239381; 32740904\nPhenotypes for gene: TBC1D20 were set to Martsolf syndrome; Warburg micro syndrome 4, MIM# 615663","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2022-06-01T16:53:06.404082+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PUS7 was added\ngene: PUS7 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list\nMode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS7 were set to 30526862; 31583274; 30778726\nPhenotypes for gene: PUS7 were set to OMIM #618342; Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature","entity_name":"PUS7","entity_type":"gene"},{"created":"2022-06-01T16:53:05.923187+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPN23 was added\ngene: PTPN23 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list\nMode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN23 were set to 25558065; 31395947; 27848944; 29899372; 29090338\nPhenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890","entity_name":"PTPN23","entity_type":"gene"},{"created":"2022-06-01T16:53:05.297987+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIP5K1C was added\ngene: PIP5K1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, 611369 (3)","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2022-06-01T16:53:04.813080+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDE6B was added\ngene: PDE6B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: PDE6B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6B were set to Retinitis pigmentosa-40, MIM #613801","entity_name":"PDE6B","entity_type":"gene"},{"created":"2022-06-01T16:53:04.127331+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OPN1LW was added\ngene: OPN1LW was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OPN1LW were set to Blue cone monochromacy, MIM#303700; Colorblindness, protan, MIM#303900","entity_name":"OPN1LW","entity_type":"gene"},{"created":"2022-06-01T16:53:03.703875+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT8 was added\ngene: KRT8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KRT8 were set to 12724528; 11372009; 15235035\nPhenotypes for gene: KRT8 were set to CIRRHOSIS, FAMILIAL, MIM #215600","entity_name":"KRT8","entity_type":"gene"},{"created":"2022-06-01T16:53:03.205698+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGA3 was added\ngene: ITGA3 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGA3 were set to 27717396; 22512483; 26854491; 32198874; 25810266\nPhenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748","entity_name":"ITGA3","entity_type":"gene"},{"created":"2022-06-01T16:53:02.506002+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISCA1 was added\ngene: ISCA1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISCA1 were set to 32092383; 30113620; 30105122; 31016283; 28356563\nPhenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM#\t617613","entity_name":"ISCA1","entity_type":"gene"},{"created":"2022-06-01T16:53:02.016599+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IMPG2 was added\ngene: IMPG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: IMPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, MIM #613801","entity_name":"IMPG2","entity_type":"gene"},{"created":"2022-06-01T16:53:01.327152+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GTPBP2 was added\ngene: GTPBP2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP2 were set to 30790272; 26675814; 29449720\nPhenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2022-06-01T16:53:00.822723+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FITM2 was added\ngene: FITM2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FITM2 were set to 30214770; 28067622; 30288795\nPhenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635","entity_name":"FITM2","entity_type":"gene"},{"created":"2022-06-01T16:53:00.197132+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAM161A was added\ngene: FAM161A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, MIM #606068","entity_name":"FAM161A","entity_type":"gene"},{"created":"2022-06-01T16:52:59.707092+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COG5 was added\ngene: COG5 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG5 were set to 32174980; 31572517; 23228021\nPhenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi, MIM# 613612","entity_name":"COG5","entity_type":"gene"},{"created":"2022-06-01T16:52:59.024020+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CIB2 was added\ngene: CIB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869 (3)","entity_name":"CIB2","entity_type":"gene"},{"created":"2022-06-01T16:52:58.611045+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD81 was added\ngene: CD81 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD81 were set to 20237408\nPhenotypes for gene: CD81 were set to Immunodeficiency, common variable, 6, 613496 (3)","entity_name":"CD81","entity_type":"gene"},{"created":"2022-06-01T16:52:58.112882+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CBS was added\ngene: CBS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)","entity_name":"CBS","entity_type":"gene"},{"created":"2022-06-01T16:52:57.493923+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCAP31 was added\ngene: BCAP31 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review\nMode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: BCAP31 were set to 31330203; 24011989; 33603160\nPhenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475","entity_name":"BCAP31","entity_type":"gene"},{"created":"2022-06-01T16:52:57.013649+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AFF2 was added\ngene: AFF2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red\nMode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AFF2 were set to Mental retardation, X-linked, FRAXE type, #309548","entity_name":"AFF2","entity_type":"gene"}]}