{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1787","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1785","results":[{"created":"2020-05-26T22:48:17.236835+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes BMFS3; 617052 BONE MARROW FAILURE SYNDROME 3 for gene: DNAJC21","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2020-05-26T22:48:16.549090+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 for gene: EFL1","entity_name":"EFL1","entity_type":"gene"},{"created":"2020-05-26T22:48:15.852494+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Shwachman-Diamond syndrome\t260400; Shwachman-Diamond syndrome 260400 for gene: SBDS","entity_name":"SBDS","entity_type":"gene"},{"created":"2020-05-26T22:48:15.053562+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R","entity_name":"PTH1R","entity_type":"gene"},{"created":"2020-05-26T22:48:14.349572+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP","entity_name":"RMRP","entity_type":"gene"},{"created":"2020-05-26T22:48:13.447936+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D","entity_name":"POLR1D","entity_type":"gene"},{"created":"2020-05-26T22:48:12.640898+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Tiong Tan","item_type":"entity","text":"Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1","entity_name":"COL10A1","entity_type":"gene"},{"created":"2020-05-26T22:45:58.839638+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"Source Victorian Clinical Genetics Services was added to RUNX2.\nAdded phenotypes Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia 119600 for gene: RUNX2","entity_name":"RUNX2","entity_type":"gene"},{"created":"2020-05-26T22:45:57.935488+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"Source Victorian Clinical Genetics Services was added to MMP9.\nSource Expert Review Green was added to MMP9.\nMode of inheritance for gene MMP9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9\nPublications for gene MMP9 were updated from 28342220; 19615667 to 19615667; 28342220\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)","entity_name":"MMP9","entity_type":"gene"},{"created":"2020-05-26T22:45:52.554398+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"Source Victorian Clinical Genetics Services was added to MMP13.\nAdded phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13","entity_name":"MMP13","entity_type":"gene"},{"created":"2020-05-26T22:45:52.053116+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"gene: SRP54 was added\ngene: SRP54 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SRP54 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SRP54 were set to 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8","entity_name":"SRP54","entity_type":"gene"},{"created":"2020-05-26T22:45:51.536730+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"gene: DNAJC21 was added\ngene: DNAJC21 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC21 were set to 617052 BONE MARROW FAILURE SYNDROME 3; BMFS3","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2020-05-26T22:45:50.943247+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"gene: EFL1 was added\ngene: EFL1 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EFL1 were set to 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2","entity_name":"EFL1","entity_type":"gene"},{"created":"2020-05-26T22:45:50.155009+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"Source Victorian Clinical Genetics Services was added to SBDS.\nAdded phenotypes Shwachman-Diamond syndrome\t260400; Shwachman-Diamond syndrome 260400 for gene: SBDS","entity_name":"SBDS","entity_type":"gene"},{"created":"2020-05-26T22:45:49.355280+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"Source Victorian Clinical Genetics Services was added to PTH1R.\nAdded phenotypes Metaphyseal chondrodysplasia, Murk Jansen type 156400; Eiken syndrome 600002; Failure of tooth eruption, primary 125350; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R","entity_name":"PTH1R","entity_type":"gene"},{"created":"2020-05-26T22:45:48.461183+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"Source Victorian Clinical Genetics Services was added to RMRP.\nAdded phenotypes Metaphyseal dysplasia without hypotrichosis 250460; Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095 for gene: RMRP","entity_name":"RMRP","entity_type":"gene"},{"created":"2020-05-26T22:45:47.558720+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"Source Victorian Clinical Genetics Services was added to POLR1D.\nAdded phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D","entity_name":"POLR1D","entity_type":"gene"},{"created":"2020-05-26T22:45:46.564065+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.23","user_name":"Tiong Tan","item_type":"entity","text":"Source Victorian Clinical Genetics Services was added to COL10A1.\nMode of inheritance for gene COL10A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1","entity_name":"COL10A1","entity_type":"gene"},{"created":"2020-05-26T16:52:02.067847+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2652","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MADD as ready","entity_name":"MADD","entity_type":"gene"},{"created":"2020-05-26T16:52:02.052319+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2652","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: madd has been classified as Green List (High Evidence).","entity_name":"MADD","entity_type":"gene"},{"created":"2020-05-26T16:51:49.588849+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2652","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MADD were changed from  to intellectual disability","entity_name":"MADD","entity_type":"gene"},{"created":"2020-05-26T16:51:16.317047+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2651","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MADD were set to ","entity_name":"MADD","entity_type":"gene"},{"created":"2020-05-26T16:50:49.375987+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2650","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MADD","entity_type":"gene"},{"created":"2020-05-26T16:11:12.127413+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALOXE3 as ready","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:11:12.114320+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aloxe3 has been classified as Green List (High Evidence).","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:11:09.733112+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALOXE3 were changed from  to Ichthyosis, congenital, autosomal recessive 3, MIM#606545","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:10:38.531908+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALOXE3 were set to ","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:09:45.807172+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:09:15.583121+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 31046801, 26370990; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM#606545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:07:36.083321+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2906","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALOXE3 as ready","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:07:36.073850+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2906","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aloxe3 has been classified as Green List (High Evidence).","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:07:29.050571+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2906","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALOXE3 were changed from  to Ichthyosis, congenital, autosomal recessive 3, MIM#606545","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:07:09.527191+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2905","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALOXE3 were set to ","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:06:50.712929+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2904","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-26T16:06:15.697459+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2903","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARMC1 as ready","entity_name":"ARMC1","entity_type":"gene"},{"created":"2020-05-26T16:06:15.688170+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2903","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: armc1 has been classified as Red List (Low Evidence).","entity_name":"ARMC1","entity_type":"gene"},{"created":"2020-05-26T16:06:06.246240+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2903","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARMC1 as Red List (low evidence)","entity_name":"ARMC1","entity_type":"gene"},{"created":"2020-05-26T16:06:06.233804+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2903","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: armc1 has been classified as Red List (Low Evidence).","entity_name":"ARMC1","entity_type":"gene"},{"created":"2020-05-26T16:05:47.291206+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2902","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ARMC1","entity_type":"gene"},{"created":"2020-05-26T16:05:15.859366+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARMC1 as ready","entity_name":"ARMC1","entity_type":"gene"},{"created":"2020-05-26T16:05:15.846562+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: armc1 has been classified as Red List (Low Evidence).","entity_name":"ARMC1","entity_type":"gene"},{"created":"2020-05-26T16:05:11.235012+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARMC1 as Red List (low evidence)","entity_name":"ARMC1","entity_type":"gene"},{"created":"2020-05-26T16:05:11.226373+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: armc1 has been classified as Red List (Low Evidence).","entity_name":"ARMC1","entity_type":"gene"},{"created":"2020-05-26T16:04:41.052195+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ARMC1","entity_type":"gene"},{"created":"2020-05-26T13:12:45.897742+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2902","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 31046801, 26370990; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM#606545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2020-05-25T18:55:15.135379+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YME1L1 as ready","entity_name":"YME1L1","entity_type":"gene"},{"created":"2020-05-25T18:55:15.125134+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yme1l1 has been classified as Red List (Low Evidence).","entity_name":"YME1L1","entity_type":"gene"},{"created":"2020-05-25T18:54:18.087546+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PDE6H as Green List (high evidence)","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-05-25T18:54:18.078906+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pde6h has been classified as Green List (High Evidence).","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-05-25T18:54:10.045055+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PDE6H was added\ngene: PDE6H was added to Achromatopsia. Sources: Expert list\nMode of inheritance for gene: PDE6H was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6H were set to Achromatopsia 6 MIM#610024","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-05-25T18:49:07.704992+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PDE6C as Green List (high evidence)","entity_name":"PDE6C","entity_type":"gene"},{"created":"2020-05-25T18:49:07.690276+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pde6c has been classified as Green List (High Evidence).","entity_name":"PDE6C","entity_type":"gene"},{"created":"2020-05-25T18:48:59.815316+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PDE6C was added\ngene: PDE6C was added to Achromatopsia. Sources: Expert list\nMode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6C were set to Achromatopsia-5","entity_name":"PDE6C","entity_type":"gene"},{"created":"2020-05-25T18:46:41.688735+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CNGB3 as Green List (high evidence)","entity_name":"CNGB3","entity_type":"gene"},{"created":"2020-05-25T18:46:41.676239+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cngb3 has been classified as Green List (High Evidence).","entity_name":"CNGB3","entity_type":"gene"},{"created":"2020-05-25T18:46:32.934881+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CNGB3 was added\ngene: CNGB3 was added to Achromatopsia. Sources: Expert list\nMode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNGB3 were set to Achromatopsia 3 MIM#262300","entity_name":"CNGB3","entity_type":"gene"},{"created":"2020-05-25T18:45:32.887794+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CNGA3 as Green List (high evidence)","entity_name":"CNGA3","entity_type":"gene"},{"created":"2020-05-25T18:45:32.874935+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cnga3 has been classified as Green List (High Evidence).","entity_name":"CNGA3","entity_type":"gene"},{"created":"2020-05-25T18:44:06.538193+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CNGA3 was added\ngene: CNGA3 was added to Achromatopsia. Sources: Expert list\nMode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNGA3 were set to Achromatopsia 2 MIM#216900","entity_name":"CNGA3","entity_type":"gene"},{"created":"2020-05-25T18:37:12.883385+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:ZFYVE26 from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-25T18:36:55.882459+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:ZFYVE26 from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-25T18:35:07.699101+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ZFYVE26 as Green List (high evidence)","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-05-25T18:35:07.683282+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: zfyve26 has been classified as Green List (High Evidence).","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-05-25T18:34:50.257735+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE26 were set to 31385551; 18394578; 14409555\nPhenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive MIM#270700","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-05-25T18:31:03.802861+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.108","user_name":"Bryony Thompson","item_type":"entity","text":"gene: YME1L1 was added\ngene: YME1L1 was added to Optic Atrophy. Sources: Expert list\nMode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YME1L1 were set to 27495975\nPhenotypes for gene: YME1L1 were set to Optic atrophy 11 MIM#617302\nReview for gene: YME1L1 was set to RED\nAdded comment: Single family reported with optic atrophy \nSources: Expert list","entity_name":"YME1L1","entity_type":"gene"},{"created":"2020-05-25T17:46:45.712679+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2902","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STK36 as ready","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:46:45.699665+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2902","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stk36 has been classified as Red List (Low Evidence).","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:46:38.145198+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2902","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STK36 were changed from  to Primary ciliary dyskinesia","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:46:19.774529+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2901","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STK36 were set to ","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:46:01.088332+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2900","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STK36 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:45:42.851870+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2899","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STK36 as Red List (low evidence)","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:45:42.842921+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2899","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stk36 has been classified as Red List (Low Evidence).","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:45:24.080343+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2898","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STK36: Rating: RED; Mode of pathogenicity: None; Publications: 28543983; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:44:42.677879+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STK36 as ready","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:44:42.665917+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stk36 has been classified as Red List (Low Evidence).","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:44:39.513333+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STK36 were changed from  to Primary ciliary dyskinesia","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:44:11.359954+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STK36 were set to ","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:43:47.415329+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STK36 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:43:15.765741+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STK36 as Red List (low evidence)","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:43:15.756936+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stk36 has been classified as Red List (Low Evidence).","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:42:46.815358+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STK36: Rating: RED; Mode of pathogenicity: None; Publications: 28543983; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:41:30.857287+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STK36 as ready","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:41:30.843021+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stk36 has been classified as Red List (Low Evidence).","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:41:22.974553+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STK36 was added\ngene: STK36 was added to Ciliary Dyskinesia. Sources: Expert list\nMode of inheritance for gene: STK36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STK36 were set to 28543983\nPhenotypes for gene: STK36 were set to Primary ciliary dyskinesia\nReview for gene: STK36 was set to RED\nAdded comment: Single individual reported with homozygous LoF variant, PCD and situs solitus. Some functional data. \nSources: Expert list","entity_name":"STK36","entity_type":"gene"},{"created":"2020-05-25T17:35:53.662337+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:USH1C from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-25T17:32:22.257796+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPGR as ready","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-25T17:32:22.244796+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgr has been classified as Green List (High Evidence).","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-25T17:32:19.454415+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPGR were changed from  to Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-25T17:31:49.446212+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPGR were set to ","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-25T17:31:20.367224+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-25T17:30:51.294772+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094550, 12920075, 16055928; Phenotypes: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RPGR","entity_type":"gene"},{"created":"2020-05-25T17:26:35.422690+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GAS2L2 as Green List (high evidence)","entity_name":"GAS2L2","entity_type":"gene"},{"created":"2020-05-25T17:26:35.411015+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gas2l2 has been classified as Green List (High Evidence).","entity_name":"GAS2L2","entity_type":"gene"},{"created":"2020-05-25T17:26:06.689566+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"GAS2L2","entity_type":"gene"},{"created":"2020-05-25T17:26:02.671708+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GAS2L2: Added comment: Two families and functional evidence.; Changed rating: GREEN; Changed publications: 30665704; Changed phenotypes: Ciliary dyskinesia, primary, 41 (MIM # 618449); Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAS2L2","entity_type":"gene"},{"created":"2020-05-25T17:20:43.178758+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAH8 as Amber List (moderate evidence)","entity_name":"DNAH8","entity_type":"gene"},{"created":"2020-05-25T17:20:43.169482+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnah8 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAH8","entity_type":"gene"},{"created":"2020-05-25T17:19:14.581468+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAH8 as ready","entity_name":"DNAH8","entity_type":"gene"},{"created":"2020-05-25T17:19:14.569911+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnah8 has been classified as Green List (High Evidence).","entity_name":"DNAH8","entity_type":"gene"},{"created":"2020-05-25T17:19:12.070284+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAH8 were changed from  to Asthenozoospermia; primary ciliary dyskinesia","entity_name":"DNAH8","entity_type":"gene"}]}