{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2041","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2039","results":[{"created":"2019-12-17T13:05:56.610885+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKRD11 was added\ngene: ANKRD11 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKRD11 were set to KBG syndrome 148050","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2019-12-17T13:05:56.514695+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKH was added\ngene: ANKH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKH were set to Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000","entity_name":"ANKH","entity_type":"gene"},{"created":"2019-12-17T13:05:56.406427+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMER1 was added\ngene: AMER1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: AMER1 were set to Osteopathia striata with cranial sclerosis\t300373; Osteopathia striata with cranial sclerosis 300373","entity_name":"AMER1","entity_type":"gene"},{"created":"2019-12-17T13:05:56.311892+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALX4 was added\ngene: ALX4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ALX4 were set to Frontonasal dysplasia 2 613451","entity_name":"ALX4","entity_type":"gene"},{"created":"2019-12-17T13:05:56.241500+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALX3 was added\ngene: ALX3 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALX3 were set to Frontonasal dysplasia 1 136760; Frontonasal dysplasia 1 136760 (frontorhiny)","entity_name":"ALX3","entity_type":"gene"},{"created":"2019-12-17T13:05:56.151314+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALX1 was added\ngene: ALX1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALX1 were set to 20451171; 27324866\nPhenotypes for gene: ALX1 were set to Frontonasal dysplasia 3 613456; Frontonasal dysplasia type 3 613456","entity_name":"ALX1","entity_type":"gene"},{"created":"2019-12-17T13:05:56.061407+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALPL was added\ngene: ALPL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: ALPL were set to hypophosphatasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias","entity_name":"ALPL","entity_type":"gene"},{"created":"2019-12-17T13:05:55.950104+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG9 was added\ngene: ALG9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG9 were set to 25966638\nPhenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome\t263210; Congenital disorder of glycosylation, type Il 608776; Gillessen-Kaesbach-Nishimura syndrome 263210","entity_name":"ALG9","entity_type":"gene"},{"created":"2019-12-17T13:05:55.879722+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG3 was added\ngene: ALG3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110","entity_name":"ALG3","entity_type":"gene"},{"created":"2019-12-17T13:05:55.810290+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG12 was added\ngene: ALG12 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143","entity_name":"ALG12","entity_type":"gene"},{"created":"2019-12-17T13:05:55.737015+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGPS was added\ngene: AGPS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGPS were set to Foundation Trust)\tRhizomelic chondrodysplasia punctata, type 3 600121; Rhizomelic chondrodysplasia punctata, type 3 600121","entity_name":"AGPS","entity_type":"gene"},{"created":"2019-12-17T13:05:55.643332+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGA was added\ngene: AGA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGA were set to Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)","entity_name":"AGA","entity_type":"gene"},{"created":"2019-12-17T13:05:55.542699+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTSL2 was added\ngene: ADAMTSL2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2019-12-17T13:05:55.472608+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTS17 was added\ngene: ADAMTS17 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS17 were set to 19836009; 31019231; 22486325; 24940034\nPhenotypes for gene: ADAMTS17 were set to Weill-Marchesani syndrome type 4","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2019-12-17T13:05:55.402281+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTS10 was added\ngene: ADAMTS10 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS10 were set to 19836009; 30060141; 15368195\nPhenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, 277600","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2019-12-17T13:05:55.331330+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACVR1 was added\ngene: ACVR1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva 135100","entity_name":"ACVR1","entity_type":"gene"},{"created":"2019-12-17T13:05:55.260558+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACP5 was added\ngene: ACP5 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation 607944","entity_name":"ACP5","entity_type":"gene"},{"created":"2019-12-17T13:05:55.191205+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACAN was added\ngene: ACAN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ACAN were set to 24762113\nPhenotypes for gene: ACAN were set to Spondyloepiphyseal dysplasia, Kimberley type 608361; Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283","entity_name":"ACAN","entity_type":"gene"},{"created":"2019-12-17T13:05:55.104075+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC9 was added\ngene: ABCC9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia  23985 (Cantu syndrome); Hypertrichotic osteochondrodysplasia\t239850","entity_name":"ABCC9","entity_type":"gene"},{"created":"2019-12-17T13:05:55.056160+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"panel","text":"Added panel Skeletal dysplasia","entity_name":null,"entity_type":null},{"created":"2019-12-17T10:24:52.029538+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTLL10 as ready","entity_name":"TTLL10","entity_type":"gene"},{"created":"2019-12-17T10:24:52.021760+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttll10 has been classified as Red List (Low Evidence).","entity_name":"TTLL10","entity_type":"gene"},{"created":"2019-12-17T10:24:40.703843+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TTLL10 as Red List (low evidence)","entity_name":"TTLL10","entity_type":"gene"},{"created":"2019-12-17T10:24:40.693646+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttll10 has been classified as Red List (Low Evidence).","entity_name":"TTLL10","entity_type":"gene"},{"created":"2019-12-17T10:24:18.662353+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TTLL10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"TTLL10","entity_type":"gene"},{"created":"2019-12-17T07:36:59.360484+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFHX3 as ready","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2019-12-17T07:36:59.353021+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfhx3 has been classified as Green List (High Evidence).","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2019-12-17T07:36:49.335625+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFHX3 were changed from  to Intellectual disability","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2019-12-17T07:36:26.866550+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.355","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZFHX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2019-12-17T07:36:07.317952+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2019-12-17T07:34:31.502678+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFHX3 as ready","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2019-12-17T07:34:31.495215+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfhx3 has been classified as Green List (High Evidence).","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2019-12-17T07:34:23.676286+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZFHX3 as Green List (high evidence)","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2019-12-17T07:34:23.668965+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfhx3 has been classified as Green List (High Evidence).","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2019-12-17T07:34:10.389435+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1412","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZFHX3 was added\ngene: ZFHX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research\nMode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZFHX3 were set to Intellectual disability\nReview for gene: ZFHX3 was set to GREEN\nAdded comment: Personal communication: Over 20 individuals with mostly de novo variants in this gene and mild ID/DD \nSources: Research","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2019-12-17T06:23:21.513250+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP7 as ready","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-17T06:23:21.505867+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp7 has been classified as Green List (High Evidence).","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-17T06:23:13.462002+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP7 were changed from  to Intellectual disability; Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-17T06:23:04.640011+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP7 were set to ","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-17T06:22:49.551928+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.352","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: USP7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-17T06:22:27.908030+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679821; Phenotypes: Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-16T16:43:57.261990+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1411","user_name":"Natasha Brown","item_type":"entity","text":"Marked gene: USP7 as ready","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-16T16:43:57.254611+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1411","user_name":"Natasha Brown","item_type":"entity","text":"Gene: usp7 has been classified as Green List (High Evidence).","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-16T16:43:52.139841+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1411","user_name":"Natasha Brown","item_type":"entity","text":"Classified gene: USP7 as Green List (high evidence)","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-16T16:43:52.132724+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1411","user_name":"Natasha Brown","item_type":"entity","text":"Gene: usp7 has been classified as Green List (High Evidence).","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-16T16:43:30.657478+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1410","user_name":"Natasha Brown","item_type":"entity","text":"gene: USP7 was added\ngene: USP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: USP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: USP7 were set to 30679821\nPhenotypes for gene: USP7 were set to ID; Autism\nReview for gene: USP7 was set to GREEN\nAdded comment: at least 16 individuals identified and 7 previous cases \nSources: Literature","entity_name":"USP7","entity_type":"gene"},{"created":"2019-12-16T16:10:58.210536+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.351","user_name":"Tiong Tan","item_type":"entity","text":"Marked gene: KLHL24 as ready","entity_name":"KLHL24","entity_type":"gene"},{"created":"2019-12-16T16:10:58.202634+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.351","user_name":"Tiong Tan","item_type":"entity","text":"Gene: klhl24 has been classified as Green List (High Evidence).","entity_name":"KLHL24","entity_type":"gene"},{"created":"2019-12-16T16:10:54.095945+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.351","user_name":"Tiong Tan","item_type":"entity","text":"Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy","entity_name":"KLHL24","entity_type":"gene"},{"created":"2019-12-16T16:10:46.238729+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.350","user_name":"Tiong Tan","item_type":"entity","text":"Phenotypes for gene: KLHL24 were changed from  to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy","entity_name":"KLHL24","entity_type":"gene"},{"created":"2019-12-16T16:10:29.217949+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.349","user_name":"Tiong Tan","item_type":"entity","text":"Publications for gene: KLHL24 were set to ","entity_name":"KLHL24","entity_type":"gene"},{"created":"2019-12-16T16:10:04.032823+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.348","user_name":"Tiong Tan","item_type":"entity","text":"Mode of inheritance for gene: KLHL24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KLHL24","entity_type":"gene"},{"created":"2019-12-16T16:09:29.857721+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.347","user_name":"Tiong Tan","item_type":"entity","text":"reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29779254, 30120936; Phenotypes: Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KLHL24","entity_type":"gene"},{"created":"2019-12-16T16:00:43.348548+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.44","user_name":"Tiong Tan","item_type":"entity","text":"Marked gene: SEC31A as ready","entity_name":"SEC31A","entity_type":"gene"},{"created":"2019-12-16T16:00:43.341318+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.44","user_name":"Tiong Tan","item_type":"entity","text":"Gene: sec31a has been classified as Amber List (Moderate Evidence).","entity_name":"SEC31A","entity_type":"gene"},{"created":"2019-12-16T16:00:31.315813+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.44","user_name":"Tiong Tan","item_type":"entity","text":"Classified gene: SEC31A as Amber List (moderate evidence)","entity_name":"SEC31A","entity_type":"gene"},{"created":"2019-12-16T16:00:31.308367+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.44","user_name":"Tiong Tan","item_type":"entity","text":"Gene: sec31a has been classified as Amber List (Moderate Evidence).","entity_name":"SEC31A","entity_type":"gene"},{"created":"2019-12-16T15:59:47.366452+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1409","user_name":"Tiong Tan","item_type":"entity","text":"Marked gene: SEC31A as ready","entity_name":"SEC31A","entity_type":"gene"},{"created":"2019-12-16T15:59:47.356558+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1409","user_name":"Tiong Tan","item_type":"entity","text":"Gene: sec31a has been classified as Amber List (Moderate Evidence).","entity_name":"SEC31A","entity_type":"gene"},{"created":"2019-12-16T15:59:24.916169+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1409","user_name":"Tiong Tan","item_type":"entity","text":"Classified gene: SEC31A as Amber List (moderate evidence)","entity_name":"SEC31A","entity_type":"gene"},{"created":"2019-12-16T15:59:24.908206+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1409","user_name":"Tiong Tan","item_type":"entity","text":"Gene: sec31a has been classified as Amber List (Moderate Evidence).","entity_name":"SEC31A","entity_type":"gene"},{"created":"2019-12-16T15:58:55.397268+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1408","user_name":"Tiong Tan","item_type":"entity","text":"gene: SEC31A was added\ngene: SEC31A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC31A were set to 30464055\nPhenotypes for gene: SEC31A were set to ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies,\tOMIM #618651\nReview for gene: SEC31A was set to AMBER\nAdded comment: Single family with two affected sibs with functional data (drosophila) \nSources: Literature","entity_name":"SEC31A","entity_type":"gene"},{"created":"2019-12-16T15:57:34.402976+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.43","user_name":"Tiong Tan","item_type":"entity","text":"gene: SEC31A was added\ngene: SEC31A was added to Microcephaly_VCGS. Sources: Literature\nMode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC31A were set to 30464055\nPhenotypes for gene: SEC31A were set to ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies,\tOMIM #618651\nReview for gene: SEC31A was set to AMBER\nAdded comment: Single family with two affected sibs with functional data (drosophila) \nSources: Literature","entity_name":"SEC31A","entity_type":"gene"},{"created":"2019-12-16T10:41:09.143259+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1407","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC12A2 as ready","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:41:09.136207+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1407","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc12a2 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:41:01.146326+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1407","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC12A2 as Amber List (moderate evidence)","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:41:01.139139+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1407","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc12a2 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:40:44.940847+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1406","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A2 was added\ngene: SLC12A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC12A2 were set to 30740830\nPhenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation\nReview for gene: SLC12A2 was set to AMBER\nAdded comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype. \nSources: Literature","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:39:06.965410+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC12A2 as ready","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:39:06.958544+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc12a2 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:38:56.473122+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC12A2 as Amber List (moderate evidence)","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:38:56.465660+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc12a2 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:38:37.125227+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A2 was added\ngene: SLC12A2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC12A2 were set to 30740830\nPhenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation\nReview for gene: SLC12A2 was set to AMBER\nAdded comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype. \nSources: Literature","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:35:50.365846+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC12A2 as ready","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:35:50.358389+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc12a2 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:35:46.649397+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC12A2 as Amber List (moderate evidence)","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:35:46.641213+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc12a2 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:34:56.603808+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A2 was added\ngene: SLC12A2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC12A2 were set to 30740830\nPhenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation\nReview for gene: SLC12A2 was set to AMBER\nAdded comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype. \nSources: Literature","entity_name":"SLC12A2","entity_type":"gene"},{"created":"2019-12-16T10:24:56.187215+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PANK4 as ready","entity_name":"PANK4","entity_type":"gene"},{"created":"2019-12-16T10:24:56.177981+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank4 has been classified as Amber List (Moderate Evidence).","entity_name":"PANK4","entity_type":"gene"},{"created":"2019-12-16T10:24:42.133140+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PANK4 as Amber List (moderate evidence)","entity_name":"PANK4","entity_type":"gene"},{"created":"2019-12-16T10:24:42.125997+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank4 has been classified as Amber List (Moderate Evidence).","entity_name":"PANK4","entity_type":"gene"},{"created":"2019-12-16T10:24:23.449869+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PANK4 was added\ngene: PANK4 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PANK4 were set to 30585370\nPhenotypes for gene: PANK4 were set to Congenital posterior cataract\nReview for gene: PANK4 was set to AMBER\nAdded comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model. \nSources: Literature","entity_name":"PANK4","entity_type":"gene"},{"created":"2019-12-16T10:21:02.948440+11:00","panel_name":"Cataract_VCGS","panel_id":66,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PANK4 as ready","entity_name":"PANK4","entity_type":"gene"},{"created":"2019-12-16T10:21:02.940724+11:00","panel_name":"Cataract_VCGS","panel_id":66,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank4 has been classified as Amber List (Moderate Evidence).","entity_name":"PANK4","entity_type":"gene"},{"created":"2019-12-16T10:20:56.195265+11:00","panel_name":"Cataract_VCGS","panel_id":66,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PANK4 as Amber List (moderate evidence)","entity_name":"PANK4","entity_type":"gene"},{"created":"2019-12-16T10:20:56.187340+11:00","panel_name":"Cataract_VCGS","panel_id":66,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank4 has been classified as Amber List (Moderate Evidence).","entity_name":"PANK4","entity_type":"gene"},{"created":"2019-12-16T10:20:25.949684+11:00","panel_name":"Cataract_VCGS","panel_id":66,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PANK4 was added\ngene: PANK4 was added to Cataract_VCGS. Sources: Literature\nMode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PANK4 were set to 30585370\nPhenotypes for gene: PANK4 were set to Congenital posterior cataract\nReview for gene: PANK4 was set to AMBER\nAdded comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model. \nSources: Literature","entity_name":"PANK4","entity_type":"gene"},{"created":"2019-12-16T06:36:22.270213+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSNK1E as ready","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2019-12-16T06:36:22.263063+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk1e has been classified as Red List (Low Evidence).","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2019-12-16T06:36:09.151435+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSNK1E was added\ngene: CSNK1E was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSNK1E were set to 30488659\nPhenotypes for gene: CSNK1E were set to Epileptic encephalopathy\nReview for gene: CSNK1E was set to RED\nAdded comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders. \nSources: Literature","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2019-12-16T06:33:56.987923+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSNK1E as ready","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2019-12-16T06:33:56.980691+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk1e has been classified as Red List (Low Evidence).","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2019-12-16T06:33:47.591625+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSNK1E was added\ngene: CSNK1E was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSNK1E were set to 30488659\nPhenotypes for gene: CSNK1E were set to Epileptic encephalopathy\nReview for gene: CSNK1E was set to RED\nAdded comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders. \nSources: Literature","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2019-12-16T06:19:21.579991+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DST as ready","entity_name":"DST","entity_type":"gene"},{"created":"2019-12-16T06:19:21.572431+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dst has been classified as Green List (High Evidence).","entity_name":"DST","entity_type":"gene"},{"created":"2019-12-16T06:19:11.202267+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DST were changed from  to Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425","entity_name":"DST","entity_type":"gene"},{"created":"2019-12-16T06:18:45.444051+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DST were set to ","entity_name":"DST","entity_type":"gene"},{"created":"2019-12-16T06:18:25.100833+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DST","entity_type":"gene"},{"created":"2019-12-16T06:18:03.113543+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522446, 30371979, 28468842; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653, Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DST","entity_type":"gene"}]}