{"count":221277,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1935","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1933","results":[{"created":"2020-02-07T19:07:13.422328+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PCYT1A was added\ngene: PCYT1A was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940","entity_name":"PCYT1A","entity_type":"gene"},{"created":"2020-02-07T19:07:13.362077+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PANK2 was added\ngene: PANK2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PANK2 were set to HARP syndrome; Neurodegeneration with brain iron accumulation 1","entity_name":"PANK2","entity_type":"gene"},{"created":"2020-02-07T19:07:13.301535+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NPHP4 was added\ngene: NPHP4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP4","entity_type":"gene"},{"created":"2020-02-07T19:07:13.242140+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NPHP3 was added\ngene: NPHP3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP3","entity_type":"gene"},{"created":"2020-02-07T19:07:13.182186+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NPHP1 was added\ngene: NPHP1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-02-07T19:07:13.117348+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MTTP was added\ngene: MTTP was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: MTTP was set to Unknown","entity_name":"MTTP","entity_type":"gene"},{"created":"2020-02-07T19:07:13.071151+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MKS1 was added\ngene: MKS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2020-02-07T19:07:13.011833+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LRP5 was added\ngene: LRP5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LRP5 were set to Exudative vitreoretinopathy 4","entity_name":"LRP5","entity_type":"gene"},{"created":"2020-02-07T19:07:12.952860+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LAMA1 was added\ngene: LAMA1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: LAMA1 was set to Unknown","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-02-07T19:07:12.894817+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IQCB1 was added\ngene: IQCB1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IQCB1 were set to Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis)","entity_name":"IQCB1","entity_type":"gene"},{"created":"2020-02-07T19:07:12.835787+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: INVS was added\ngene: INVS was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INVS were set to Nephronophthisis 2, infantile","entity_name":"INVS","entity_type":"gene"},{"created":"2020-02-07T19:07:12.773043+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: INPP5E was added\ngene: INPP5E was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INPP5E","entity_type":"gene"},{"created":"2020-02-07T19:07:12.715206+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IFT81 was added\ngene: IFT81 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: IFT81 was set to Unknown","entity_name":"IFT81","entity_type":"gene"},{"created":"2020-02-07T19:07:12.655710+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IFT140 was added\ngene: IFT140 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT140 were set to Retinitis pigmentosa 80","entity_name":"IFT140","entity_type":"gene"},{"created":"2020-02-07T19:07:12.597497+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HMX1 was added\ngene: HMX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HMX1","entity_type":"gene"},{"created":"2020-02-07T19:07:12.531235+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HGSNAT was added\ngene: HGSNAT was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGSNAT were set to Retinitis pigmentosa 73","entity_name":"HGSNAT","entity_type":"gene"},{"created":"2020-02-07T19:07:12.485821+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HARS was added\ngene: HARS was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS were set to Usher syndrome type 3B","entity_name":"HARS","entity_type":"gene"},{"created":"2020-02-07T19:07:12.425487+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GNPTG was added\ngene: GNPTG was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTG were set to Mucolipidosis III gamma; Genetic Retinal Degeneration Conditions","entity_name":"GNPTG","entity_type":"gene"},{"created":"2020-02-07T19:07:12.368126+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLVCR1 was added\ngene: FLVCR1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2020-02-07T19:07:12.309806+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EXOSC2 was added\ngene: EXOSC2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: EXOSC2 was set to Unknown","entity_name":"EXOSC2","entity_type":"gene"},{"created":"2020-02-07T19:07:12.251450+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ELOVL4 was added\ngene: ELOVL4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ELOVL4 were set to Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110; Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2020-02-07T19:07:12.194413+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CSPP1 was added\ngene: CSPP1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSPP1 were set to Genetic Retinal Degeneration Conditions; Joubert syndrome 21","entity_name":"CSPP1","entity_type":"gene"},{"created":"2020-02-07T19:07:12.129790+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL9A1 was added\ngene: COL9A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A1 were set to Stickler syndrome, type IV","entity_name":"COL9A1","entity_type":"gene"},{"created":"2020-02-07T19:07:12.071945+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CLN3 was added\ngene: CLN3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN3 were set to Juvenile neuronal ceroid lipofuscinosis; Retinitis pigmentosa","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-02-07T19:07:12.006509+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CEP290 was added\ngene: CEP290 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to Meckel syndrome 4, 611134; Senior-Loken syndrome 6, 610189; Bardet-Biedl syndrome 14, 209900; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188","entity_name":"CEP290","entity_type":"gene"},{"created":"2020-02-07T19:07:11.946345+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CEP164 was added\ngene: CEP164 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP164","entity_type":"gene"},{"created":"2020-02-07T19:07:11.889362+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CC2D2A was added\ngene: CC2D2A was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to Joubert syndrome 9; Meckel syndrome 6; COACH syndrome","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-02-07T19:07:11.842051+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALMS1 was added\ngene: ALMS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome","entity_name":"ALMS1","entity_type":"gene"},{"created":"2020-02-07T19:07:11.780078+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AHI1 was added\ngene: AHI1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHI1 were set to Joubert syndrome 17","entity_name":"AHI1","entity_type":"gene"},{"created":"2020-02-07T19:07:11.722788+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADIPOR1 was added\ngene: ADIPOR1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ADIPOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ADIPOR1 were set to syndromic retinitis pigmentosa; non-syndromic autosomal dominant retinitis pigmentosa","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-02-07T19:07:11.666922+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADAMTS18 was added\ngene: ADAMTS18 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS18 were set to Microcornea, myopic chorioretinal atrophy, and telecanthus; Genetic Retinal Degeneration Conditions","entity_name":"ADAMTS18","entity_type":"gene"},{"created":"2020-02-07T19:07:11.607552+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACO2 was added\ngene: ACO2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-02-07T19:07:11.552306+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACBD5 was added\ngene: ACBD5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ACBD5 was set to Unknown","entity_name":"ACBD5","entity_type":"gene"},{"created":"2020-02-07T19:07:11.495163+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABHD12 was added\ngene: ABHD12 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-02-07T19:07:11.438732+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VCAN was added\ngene: VCAN was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: VCAN were set to Wagner Syndrome","entity_name":"VCAN","entity_type":"gene"},{"created":"2020-02-07T19:07:11.380283+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TREX1 was added\ngene: TREX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: TREX1 was set to Unknown","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-02-07T19:07:11.319768+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PAX2 was added\ngene: PAX2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: PAX2 was set to Unknown","entity_name":"PAX2","entity_type":"gene"},{"created":"2020-02-07T19:07:11.277186+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OPA3 was added\ngene: OPA3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: OPA3 were set to Autosomal Dominant Optic Atrophy","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-02-07T19:07:11.220890+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MFN2 was added\ngene: MFN2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: MFN2 was set to Unknown","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-02-07T19:07:11.147860+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KIF11 was added\ngene: KIF11 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM#152950","entity_name":"KIF11","entity_type":"gene"},{"created":"2020-02-07T19:07:11.085223+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KCNJ13 was added\ngene: KCNJ13 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: KCNJ13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ13 were set to Leber congenital amaurosis 16, 614186; Snowflake vitreoretinal degeneration, 193230","entity_name":"KCNJ13","entity_type":"gene"},{"created":"2020-02-07T19:07:11.028320+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: JAG1 was added\ngene: JAG1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: JAG1 was set to Unknown","entity_name":"JAG1","entity_type":"gene"},{"created":"2020-02-07T19:07:10.972871+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL2A1 was added\ngene: COL2A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL2A1 were set to Stickler syndrome, type I","entity_name":"COL2A1","entity_type":"gene"},{"created":"2020-02-07T19:07:10.917945+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL11A1 was added\ngene: COL11A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL11A1 were set to Stickler syndrome, type II, MIM#604841","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-02-07T19:07:10.863312+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATXN7 was added\ngene: ATXN7 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ATXN7 was set to Unknown","entity_name":"ATXN7","entity_type":"gene"},{"created":"2020-02-07T19:07:10.808733+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AFG3L2 was added\ngene: AFG3L2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: AFG3L2 was set to Unknown","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-02-07T19:07:10.750569+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABCC6 was added\ngene: ABCC6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet\nMode of inheritance for gene: ABCC6 was set to Unknown","entity_name":"ABCC6","entity_type":"gene"},{"created":"2020-02-07T19:07:10.724883+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Syndromic Retinopathy","entity_name":null,"entity_type":null},{"created":"2020-02-07T18:41:57.713628+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2043","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INSR as ready","entity_name":"INSR","entity_type":"gene"},{"created":"2020-02-07T18:41:57.708911+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2043","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: insr has been classified as Red List (Low Evidence).","entity_name":"INSR","entity_type":"gene"},{"created":"2020-02-07T18:41:16.995083+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2043","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INSR were changed from  to Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190","entity_name":"INSR","entity_type":"gene"},{"created":"2020-02-07T18:40:37.039654+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2042","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INSR","entity_type":"gene"},{"created":"2020-02-07T18:39:59.461515+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2041","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INSR as Red List (low evidence)","entity_name":"INSR","entity_type":"gene"},{"created":"2020-02-07T18:39:59.456559+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2041","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: insr has been classified as Red List (Low Evidence).","entity_name":"INSR","entity_type":"gene"},{"created":"2020-02-07T18:39:18.133203+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2040","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INSR","entity_type":"gene"},{"created":"2020-02-07T17:34:23.451815+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2040","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC9 as ready","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-02-07T17:34:23.446860+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2040","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc9 has been classified as Green List (High Evidence).","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-02-07T17:34:05.568475+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2040","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAPPC9 were changed from  to Intellectual disability, autosomal recessive 13 (MIM# 613192)","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-02-07T17:33:31.423841+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2039","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAPPC9 were set to ","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-02-07T17:33:01.887594+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2039","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-02-07T17:30:59.743326+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKD2 were changed from Polycystic kidney disease 2, MIM#613095 AD to Polycystic kidney disease 2, MIM#613095 AD","entity_name":"PKD2","entity_type":"gene"},{"created":"2020-02-07T17:30:56.479818+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKD2 as ready","entity_name":"PKD2","entity_type":"gene"},{"created":"2020-02-07T17:30:56.473140+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkd2 has been classified as Green List (High Evidence).","entity_name":"PKD2","entity_type":"gene"},{"created":"2020-02-07T17:30:07.902289+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKD2 were changed from  to Polycystic kidney disease 2, MIM#613095 AD","entity_name":"PKD2","entity_type":"gene"},{"created":"2020-02-07T17:29:15.672864+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PKD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PKD2","entity_type":"gene"},{"created":"2020-02-07T17:27:54.705335+11:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN5A as ready","entity_name":"SCN5A","entity_type":"gene"},{"created":"2020-02-07T17:27:54.699609+11:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn5a has been classified as Green List (High Evidence).","entity_name":"SCN5A","entity_type":"gene"},{"created":"2020-02-07T17:27:40.451858+11:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN5A were changed from  to Atrial fibrillation, familial, 10; Brugada syndrome 1; Cardiomyopathy, dilated, 1E; Heart block, nonprogressive; Heart block, progressive, type IA; Long QT syndrome 3; Sick sinus syndrome 1; Ventricular fibrillation, familial, 1; {Sudden infant death syndrome, susceptibility to}","entity_name":"SCN5A","entity_type":"gene"},{"created":"2020-02-07T17:27:15.717176+11:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN5A were set to ","entity_name":"SCN5A","entity_type":"gene"},{"created":"2020-02-07T17:26:49.190511+11:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SCN5A was changed from  to Other","entity_name":"SCN5A","entity_type":"gene"},{"created":"2020-02-07T17:26:24.458242+11:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN5A","entity_type":"gene"},{"created":"2020-02-07T17:23:05.120729+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1304","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCO2 as ready","entity_name":"SCO2","entity_type":"gene"},{"created":"2020-02-07T17:23:05.115186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sco2 has been classified as Green List (High Evidence).","entity_name":"SCO2","entity_type":"gene"},{"created":"2020-02-07T17:22:52.888616+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1304","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCO2 were changed from  to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6; Charcot-Marie-Tooth type 4; Cerebellar ataxia and progressive peripheral axonal neuropthy","entity_name":"SCO2","entity_type":"gene"},{"created":"2020-02-07T17:22:16.295870+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1303","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCO2 were set to ","entity_name":"SCO2","entity_type":"gene"},{"created":"2020-02-07T17:22:01.880012+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1302","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCO2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCO2","entity_type":"gene"},{"created":"2020-02-07T17:16:14.363938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1301","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IDUA as ready","entity_name":"IDUA","entity_type":"gene"},{"created":"2020-02-07T17:16:14.355774+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: idua has been classified as Green List (High Evidence).","entity_name":"IDUA","entity_type":"gene"},{"created":"2020-02-07T17:15:45.532077+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1301","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDUA were changed from  to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070)","entity_name":"IDUA","entity_type":"gene"},{"created":"2020-02-07T17:14:15.856575+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1300","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IDUA were set to ","entity_name":"IDUA","entity_type":"gene"},{"created":"2020-02-07T17:14:01.508159+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1299","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDUA","entity_type":"gene"},{"created":"2020-02-07T17:13:05.556568+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AHI1 as ready","entity_name":"AHI1","entity_type":"gene"},{"created":"2020-02-07T17:13:05.551448+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ahi1 has been classified as Green List (High Evidence).","entity_name":"AHI1","entity_type":"gene"},{"created":"2020-02-07T17:12:47.365800+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1298","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AHI1 were changed from  to Joubert syndrome 3, MIM#608629","entity_name":"AHI1","entity_type":"gene"},{"created":"2020-02-07T17:12:20.371733+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1297","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AHI1 were set to ","entity_name":"AHI1","entity_type":"gene"},{"created":"2020-02-07T17:12:07.395698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1296","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AHI1","entity_type":"gene"},{"created":"2020-02-07T17:10:28.137769+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TGM5 as ready","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:10:28.132409+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tgm5 has been classified as Green List (High Evidence).","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:10:23.338939+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TGM5 were changed from  to Peeling skin syndrome 2, MIM# 609796","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:09:04.647775+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TGM5 were set to ","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:08:30.693635+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TGM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:07:29.346321+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TGM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380904; Phenotypes: Peeling skin syndrome 2, MIM# 609796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:06:22.972609+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1295","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TGM5 as ready","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:06:22.967677+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1295","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tgm5 has been classified as Green List (High Evidence).","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:06:10.608509+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1295","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TGM5 were changed from  to Peeling skin syndrome 2, MIM#\t609796","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:04:50.203965+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1294","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TGM5 were set to ","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:04:26.491237+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1293","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TGM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TGM5","entity_type":"gene"},{"created":"2020-02-07T17:03:44.453306+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEC as ready","entity_name":"PLEC","entity_type":"gene"},{"created":"2020-02-07T17:03:44.448039+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plec has been classified as Green List (High Evidence).","entity_name":"PLEC","entity_type":"gene"},{"created":"2020-02-07T17:03:34.462962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLEC were changed from  to ?Epidermolysis bullosa simplex with nail dystrophy, MIM#\t616487; Epidermolysis bullosa simplex with muscular dystrophy, MIM#\t226670; Epidermolysis bullosa simplex with pyloric atresia, MIM#\t612138; Epidermolysis bullosa simplex, Ogna type\tMIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM#\t613723","entity_name":"PLEC","entity_type":"gene"}]}