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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2041",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}