{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1793","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1791","results":[{"created":"2020-05-22T11:50:24.473189+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rbp4 has been classified as Green List (High Evidence).","entity_name":"RBP4","entity_type":"gene"},{"created":"2020-05-22T11:49:51.026084+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RBP4 was added\ngene: RBP4 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RBP4 were set to 25910211; 29178648\nPhenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10\tMIM#616428\nReview for gene: RBP4 was set to GREEN\nAdded comment: At least 3 unrelated  microphthalmia, anophthalmia and coloboma families and supporting functional assays. Study established an uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA. \nSources: Literature","entity_name":"RBP4","entity_type":"gene"},{"created":"2020-05-22T11:41:26.844258+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RBP4 as ready","entity_name":"RBP4","entity_type":"gene"},{"created":"2020-05-22T11:41:26.832041+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rbp4 has been classified as Green List (High Evidence).","entity_name":"RBP4","entity_type":"gene"},{"created":"2020-05-22T11:41:23.915548+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RBP4 as Green List (high evidence)","entity_name":"RBP4","entity_type":"gene"},{"created":"2020-05-22T11:41:23.904471+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rbp4 has been classified as Green List (High Evidence).","entity_name":"RBP4","entity_type":"gene"},{"created":"2020-05-22T11:41:15.504989+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RBP4 was added\ngene: RBP4 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: RBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBP4 were set to 23189188; 9888420; 32323592\nPhenotypes for gene: RBP4 were set to Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147\nReview for gene: RBP4 was set to GREEN\nAdded comment: At least three families reported with arRP \nSources: Expert list","entity_name":"RBP4","entity_type":"gene"},{"created":"2020-05-22T10:52:10.088236+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: OPN1SW as Green List (high evidence)","entity_name":"OPN1SW","entity_type":"gene"},{"created":"2020-05-22T10:52:10.077283+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: opn1sw has been classified as Green List (High Evidence).","entity_name":"OPN1SW","entity_type":"gene"},{"created":"2020-05-22T10:52:01.647970+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OPN1SW was added\ngene: OPN1SW was added to Cone-rod Dystrophy. Sources: Expert list\nMode of inheritance for gene: OPN1SW was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OPN1SW were set to 22065927; 1531728\nPhenotypes for gene: OPN1SW were set to Colorblindness, tritan MIM#190900\nReview for gene: OPN1SW was set to GREEN\nAdded comment: Has been included on this panel, so that it is with the other cone-specific colour blindness genes. At least 6 missense variants associated with tritanopia. \nSources: Expert list","entity_name":"OPN1SW","entity_type":"gene"},{"created":"2020-05-22T10:22:21.245819+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NMNAT1 as ready","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2020-05-22T10:22:21.233457+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nmnat1 has been classified as Green List (High Evidence).","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2020-05-22T10:22:18.874747+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NMNAT1 as Green List (high evidence)","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2020-05-22T10:22:18.865927+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nmnat1 has been classified as Green List (High Evidence).","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2020-05-22T10:22:08.688913+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NMNAT1 was added\ngene: NMNAT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NMNAT1 were set to 22842230; 17132048\nPhenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9\tMIM#608553\nReview for gene: NMNAT1 was set to GREEN\nAdded comment: At least 8 families with biallelic variants and a supporting drosophila model with retinal degeneration. \nSources: Expert list","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2020-05-22T10:09:44.086199+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2860","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JARID2 as ready","entity_name":"JARID2","entity_type":"gene"},{"created":"2020-05-22T10:09:44.076525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2860","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jarid2 has been classified as Amber List (Moderate Evidence).","entity_name":"JARID2","entity_type":"gene"},{"created":"2020-05-22T10:09:35.456810+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2860","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JARID2 as Amber List (moderate evidence)","entity_name":"JARID2","entity_type":"gene"},{"created":"2020-05-22T10:09:35.446176+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2860","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jarid2 has been classified as Amber List (Moderate Evidence).","entity_name":"JARID2","entity_type":"gene"},{"created":"2020-05-22T10:09:16.659739+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2859","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JARID2 was added\ngene: JARID2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JARID2 were set to 23294540\nPhenotypes for gene: JARID2 were set to Intellectual disability\nReview for gene: JARID2 was set to AMBER\nAdded comment: Emerging evidence that haploinsufficiency causes neurodevelopmental phenotypes, mostly based on CNV data to date. \nSources: Expert Review","entity_name":"JARID2","entity_type":"gene"},{"created":"2020-05-22T10:07:21.570950+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2646","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JARID2 as ready","entity_name":"JARID2","entity_type":"gene"},{"created":"2020-05-22T10:07:21.555338+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2646","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jarid2 has been classified as Amber List (Moderate Evidence).","entity_name":"JARID2","entity_type":"gene"},{"created":"2020-05-22T10:07:14.985185+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2646","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JARID2 as Amber List (moderate evidence)","entity_name":"JARID2","entity_type":"gene"},{"created":"2020-05-22T10:07:14.974286+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2646","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jarid2 has been classified as Amber List (Moderate Evidence).","entity_name":"JARID2","entity_type":"gene"},{"created":"2020-05-22T10:06:42.291853+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2645","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JARID2 was added\ngene: JARID2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JARID2 were set to 23294540\nPhenotypes for gene: JARID2 were set to Intellectual disability\nReview for gene: JARID2 was set to AMBER\nAdded comment: Emerging evidence, mostly based on CNV data to date. \nSources: Expert Review","entity_name":"JARID2","entity_type":"gene"},{"created":"2020-05-22T10:04:52.399343+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ITM2B as Green List (high evidence)","entity_name":"ITM2B","entity_type":"gene"},{"created":"2020-05-22T10:04:52.387168+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: itm2b has been classified as Green List (High Evidence).","entity_name":"ITM2B","entity_type":"gene"},{"created":"2020-05-22T10:04:18.968109+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ITM2B was added\ngene: ITM2B was added to Incidentalome. Sources: Expert list\nMode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ITM2B were set to Dementia, familial British MIM#176500; Dementia, familial Danish\tMIM#117300","entity_name":"ITM2B","entity_type":"gene"},{"created":"2020-05-22T10:02:06.507127+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2858","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:ITM2B from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-22T09:59:51.658141+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MSTO1 as ready","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-05-22T09:59:51.648706+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msto1 has been classified as Green List (High Evidence).","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-05-22T09:59:47.962565+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MSTO1 as Green List (high evidence)","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-05-22T09:59:47.951565+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msto1 has been classified as Green List (High Evidence).","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-05-22T09:59:38.948484+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MSTO1 was added\ngene: MSTO1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSTO1 were set to 29339779; 28544275\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675\nReview for gene: MSTO1 was set to GREEN\nAdded comment: Pigmentary retinopathy reported as a feature of the condition in at least 3 unrelated cases with biallelic variants. \nSources: Expert list","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-05-22T09:43:57.689003+10:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ITM2B as ready","entity_name":"ITM2B","entity_type":"gene"},{"created":"2020-05-22T09:43:57.680495+10:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: itm2b has been classified as Red List (Low Evidence).","entity_name":"ITM2B","entity_type":"gene"},{"created":"2020-05-22T09:43:46.032627+10:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ITM2B was added\ngene: ITM2B was added to Congenital Stationary Night Blindness. Sources: Expert list\nMode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITM2B were set to 24026677\nPhenotypes for gene: ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079\nReview for gene: ITM2B was set to RED\nAdded comment: Single family reported with an unusual retinal dystrophy phenotype (most similar to CSNB), segregating a heterozygous missense variant. Minimal functional evidence assessing protein expression and localisation in different tissues. \nSources: Expert list","entity_name":"ITM2B","entity_type":"gene"},{"created":"2020-05-22T09:15:10.643101+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HACE1 as ready","entity_name":"HACE1","entity_type":"gene"},{"created":"2020-05-22T09:15:10.630252+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hace1 has been classified as Amber List (Moderate Evidence).","entity_name":"HACE1","entity_type":"gene"},{"created":"2020-05-22T09:15:05.807904+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HACE1 as Amber List (moderate evidence)","entity_name":"HACE1","entity_type":"gene"},{"created":"2020-05-22T09:15:05.795289+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hace1 has been classified as Amber List (Moderate Evidence).","entity_name":"HACE1","entity_type":"gene"},{"created":"2020-05-22T09:14:55.809728+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HACE1 was added\ngene: HACE1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HACE1 were set to 26424145\nPhenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756\nReview for gene: HACE1 was set to AMBER\nAdded comment: Retinal dystrophy reported as a feature of the condition in two families. \nSources: Expert list","entity_name":"HACE1","entity_type":"gene"},{"created":"2020-05-22T09:08:33.202818+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GNAT2 as ready","entity_name":"GNAT2","entity_type":"gene"},{"created":"2020-05-22T09:08:33.193320+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gnat2 has been classified as Green List (High Evidence).","entity_name":"GNAT2","entity_type":"gene"},{"created":"2020-05-22T09:08:28.701501+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GNAT2 as Green List (high evidence)","entity_name":"GNAT2","entity_type":"gene"},{"created":"2020-05-22T09:08:28.688034+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gnat2 has been classified as Green List (High Evidence).","entity_name":"GNAT2","entity_type":"gene"},{"created":"2020-05-22T09:08:18.861837+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GNAT2 was added\ngene: GNAT2 was added to Achromatopsia. Sources: Expert list\nMode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNAT2 were set to 32203983; 17251445\nPhenotypes for gene: GNAT2 were set to Achromatopsia 4 MIM#613856\nReview for gene: GNAT2 was set to GREEN\nAdded comment: Nine cases from four unrelated consanguineous families and a supporting zebrafish model. \nSources: Expert list","entity_name":"GNAT2","entity_type":"gene"},{"created":"2020-05-22T08:59:53.202456+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GDF6 as ready","entity_name":"GDF6","entity_type":"gene"},{"created":"2020-05-22T08:59:53.193099+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gdf6 has been classified as Amber List (Moderate Evidence).","entity_name":"GDF6","entity_type":"gene"},{"created":"2020-05-22T08:59:47.817917+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GDF6 as Amber List (moderate evidence)","entity_name":"GDF6","entity_type":"gene"},{"created":"2020-05-22T08:59:47.804035+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gdf6 has been classified as Amber List (Moderate Evidence).","entity_name":"GDF6","entity_type":"gene"},{"created":"2020-05-22T08:59:33.921771+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GDF6 was added\ngene: GDF6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: GDF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GDF6 were set to 23307924\nPhenotypes for gene: GDF6 were set to Leber congenital amaurosis 17 MIM#615360\nReview for gene: GDF6 was set to AMBER\nAdded comment: One compound heterozygote and three cases with a single heterozygous variant where unaffected parent carrier status and allele frequency of variants in gnomAD suggest presence of a second unidentified allele. Supporting in vitro functional assays and retinal apoptosis is observed in both murine and zebrafish mutant models, a characteristic feature of human retinal dystrophies. \nSources: Expert list","entity_name":"GDF6","entity_type":"gene"},{"created":"2020-05-21T20:57:00.312196+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADIPOR1 as ready","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:57:00.301471+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adipor1 has been classified as Amber List (Moderate Evidence).","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:56:57.115802+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADIPOR1 were set to ","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:56:45.690185+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADIPOR1 as Amber List (moderate evidence)","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:56:45.677084+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adipor1 has been classified as Amber List (Moderate Evidence).","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:56:34.421425+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Not syndromic.; to: ID and obesity in addition to RP reported with bi-allelic disease.","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:56:04.637434+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADIPOR1: Changed rating: AMBER","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:55:05.632133+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADIPOR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:54:32.764971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2857","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADIPOR1 as ready","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:54:32.748374+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adipor1 has been classified as Amber List (Moderate Evidence).","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:54:24.567052+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2857","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADIPOR1 were changed from  to Retinitis pigmentosa","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:54:04.045654+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2856","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADIPOR1 were set to ","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:53:42.775526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2855","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADIPOR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:53:23.151030+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2854","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADIPOR1 as Amber List (moderate evidence)","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:53:23.140121+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adipor1 has been classified as Amber List (Moderate Evidence).","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:53:05.516855+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2853","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27655171, 26662040; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADIPOR1","entity_type":"gene"},{"created":"2020-05-21T20:45:24.020012+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2853","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: TRIP12: At least 10 unrelated patients reported with ID with or without autism (PMIDs: 27848077, 28251352).","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:45:00.080223+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIP12 as ready","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:45:00.070783+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trip12 has been classified as Green List (High Evidence).","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:44:55.980774+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIP12 were changed from  to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:42:35.476085+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:41:49.457067+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:40:51.783723+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2853","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIP12 as ready","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:40:51.772659+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2853","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trip12 has been classified as Green List (High Evidence).","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:40:42.664539+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2853","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIP12 were changed from  to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:40:12.249028+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2852","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIP12 were set to ","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:39:48.656710+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2851","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:39:28.186774+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2850","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:39:02.209733+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2644","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIP12 as ready","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:39:02.197104+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2644","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trip12 has been classified as Green List (High Evidence).","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:38:52.729393+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2644","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIP12 were changed from  to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:38:31.960946+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2643","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIP12 were set to 27848077; 28251352","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:38:09.692134+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2643","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIP12 were set to ","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T20:37:36.441555+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2642","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T19:45:08.676615+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2641","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TRIP12","entity_type":"gene"},{"created":"2020-05-21T16:36:06.293933+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ERCC8 as ready","entity_name":"ERCC8","entity_type":"gene"},{"created":"2020-05-21T16:36:06.284975+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ercc8 has been classified as Green List (High Evidence).","entity_name":"ERCC8","entity_type":"gene"},{"created":"2020-05-21T16:36:02.178367+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ERCC8 as Green List (high evidence)","entity_name":"ERCC8","entity_type":"gene"},{"created":"2020-05-21T16:36:02.166351+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ercc8 has been classified as Green List (High Evidence).","entity_name":"ERCC8","entity_type":"gene"},{"created":"2020-05-21T16:35:54.229084+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ERCC8 was added\ngene: ERCC8 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC8 were set to 26204423\nPhenotypes for gene: ERCC8 were set to Cockayne syndrome, type A MIM#216400\nReview for gene: ERCC8 was set to GREEN\nAdded comment: Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%). \nSources: Literature","entity_name":"ERCC8","entity_type":"gene"},{"created":"2020-05-21T16:34:09.848615+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ERCC6 as Green List (high evidence)","entity_name":"ERCC6","entity_type":"gene"},{"created":"2020-05-21T16:34:09.839628+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ercc6 has been classified as Green List (High Evidence).","entity_name":"ERCC6","entity_type":"gene"},{"created":"2020-05-21T16:33:59.532485+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ERCC6 was added\ngene: ERCC6 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC6 were set to 26204423\nPhenotypes for gene: ERCC6 were set to Cockayne syndrome, type B MIM#133540\nReview for gene: ERCC6 was set to GREEN\nAdded comment: Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%). \nSources: Expert list","entity_name":"ERCC6","entity_type":"gene"},{"created":"2020-05-21T16:14:49.803639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2850","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CX3CR1 as ready","entity_name":"CX3CR1","entity_type":"gene"},{"created":"2020-05-21T16:14:49.794699+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2850","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cx3cr1 has been classified as Red List (Low Evidence).","entity_name":"CX3CR1","entity_type":"gene"},{"created":"2020-05-21T16:14:41.149908+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2850","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CX3CR1 were changed from  to Coronary artery disease, resistance to}, MIM# 607339; {Macular degeneration, age-related, 12} 613784; {Rapid progression to AIDS from HIV1 infection} 609423","entity_name":"CX3CR1","entity_type":"gene"},{"created":"2020-05-21T16:14:18.659176+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2849","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CX3CR1 as Red List (low evidence)","entity_name":"CX3CR1","entity_type":"gene"},{"created":"2020-05-21T16:14:18.649037+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2849","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cx3cr1 has been classified as Red List (Low Evidence).","entity_name":"CX3CR1","entity_type":"gene"}]}