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{
"created": "2020-12-02T08:20:37.684268+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:20:28.737041+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to Region: ISCA-37486-Loss.",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:19:50.545073+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to Region: ISCA-37446-Loss.",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:18:32.153788+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37446-Loss as ready",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:18:32.144124+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37446-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:18:29.135859+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37446-Loss were changed from Chromosome 22q11.2 deletion syndrome, distal MIM#611867 to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:18:22.251882+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:18:03.417098+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37446-Loss as Green List (high evidence)",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:18:03.409899+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37446-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:17:51.971739+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed Region: ISCA-37446-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671380; Phenotypes: Chromosome 22q11.2 deletion syndrome, distal MIM#611867, intellectual disability, autism, multiple congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:16:30.536394+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.71",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37446-Gain was added\nRegion: ISCA-37446-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37446-Gain were set to PMID: 18707033\nPhenotypes for Region: ISCA-37446-Gain were set to Chromosome 22q11.2 microduplication syndrome\tMIM#608363\nReview for Region: ISCA-37446-Gain was set to GREEN\nAdded comment: Established CNV\r\n\r\nExtremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects.\r\n\r\nBoth de novo and familial reports \nSources: Expert list",
"entity_name": "ISCA-37446-Gain",
"entity_type": "region"
},
{
"created": "2020-12-02T08:13:32.286569+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.71",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37443-Loss was added\nRegion: ISCA-37443-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37443-Loss were set to PMID: 20830797; 19460468; 19610115\nPhenotypes for Region: ISCA-37443-Loss were set to Chromosome 3q29 microdeletion syndrome MIM#609425\nReview for Region: ISCA-37443-Loss was set to GREEN\nAdded comment: Established CNV\r\n\r\nPatients have intellectual disabilities, a history of autism and psychiatric symptoms. \r\n\r\nThe region of overlap encompasses 20 RefSeq genes, including FBX045, DLG1, and PAK2. \r\n\r\nBoth familial and de novo reports \nSources: Expert list",
"entity_name": "ISCA-37443-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:12:15.871219+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37486-Loss as ready",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:12:15.861211+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37486-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:12:11.567673+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913 to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:11:58.568182+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for Region: ISCA-37486-Loss were set to PMID: 19914906",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:11:46.639397+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37486-Loss as Green List (high evidence)",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:11:46.629125+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37486-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:11:36.133148+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed Region: ISCA-37486-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 32993859, 32732550, 32597026, 32537635; Phenotypes: Chromosome 16p11.2 deletion syndrome MIM#611913, distal BP2-BP3, intellectual disability, autism, obesity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:08:12.228251+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.68",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37446-Loss was added\nRegion: ISCA-37446-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049\nPhenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867\nReview for Region: ISCA-37446-Loss was set to GREEN\nAdded comment: Established CNV\r\n\r\nUsually de novo\r\nAll patients presented with characteristic facial dysmorphic features. A history of prematurity, prenatal and postnatal growth delay, developmental delay, and mild skeletal abnormalities was prevalent among the patients. Two patients were found to have a cardiovascular malformation, one had truncus arteriosus, and another had a bicuspid aortic valve. \nSources: Expert list",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:04:40.829445+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37493-Loss as ready",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:04:40.815702+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37493-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:04:38.587812+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37493-Loss were changed from 1q43q44 microdeletion syndrome to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:04:31.822355+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for Region: ISCA-37493-Loss were set to PMID: 28283832",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:04:16.200576+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37493-Loss as Green List (high evidence)",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:04:16.190738+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37493-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2020-12-02T08:04:05.560726+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed Region: ISCA-37493-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 31929334, 31830750, 30853971; Phenotypes: 1q43q44 microdeletion syndrome, intellectual disability, seizures, microcephaly, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T21:18:09.672123+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37494-Gain as ready",
"entity_name": "ISCA-37494-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T21:18:09.664152+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37494-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37494-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T21:18:06.741060+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37494-Gain were changed from Chromosome Xq28 duplication syndrome MIM#300815 to Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections",
"entity_name": "ISCA-37494-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T21:17:59.282441+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for Region: ISCA-37494-Gain were set to PMID: 25927380",
"entity_name": "ISCA-37494-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T21:17:38.948843+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37494-Gain as Green List (high evidence)",
"entity_name": "ISCA-37494-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T21:17:38.940625+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37494-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37494-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T21:17:24.859472+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed Region: ISCA-37494-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301461, 32043567, 32112660; Phenotypes: Chromosome Xq28 duplication syndrome MIM#300815, intellectual disability, hypotonia, seizures, spasticity, recurrent respiratory infections; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ISCA-37494-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T18:30:01.259914+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37500-Loss as ready",
"entity_name": "ISCA-37500-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:30:01.251809+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37500-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37500-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:29:59.065068+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37500-Loss were changed from Chromosome 15q25 deletion syndrome\tMIM#614294 to Chromosome 15q25 deletion syndrome\tMIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities",
"entity_name": "ISCA-37500-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:29:41.786492+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for Region: ISCA-37500-Loss were set to PMID: 20921022",
"entity_name": "ISCA-37500-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:29:28.177242+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37500-Loss as Green List (high evidence)",
"entity_name": "ISCA-37500-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:29:28.167103+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37500-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37500-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:29:14.352116+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed Region: ISCA-37500-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 24352913; Phenotypes: Chromosome 15q25 deletion syndrome MIM#614294, intellectual disability, congenital abnormalities, haematological abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ISCA-37500-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:24:31.551410+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37501-Loss as ready",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:24:31.528368+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37501-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:24:25.627325+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37501-Loss were changed from Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355 to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355; intellectual disability; microcephaly; congenital anomalies; pulmonary hypertension",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:24:18.074416+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for Region: ISCA-37501-Loss were set to PMID: 20206336",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:23:57.637497+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37501-Loss as Green List (high evidence)",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:23:57.630534+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37501-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T18:23:47.258407+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed Region: ISCA-37501-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 31151956, 30639323; Phenotypes: Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355, intellectual disability, microcephaly, congenital anomalies, pulmonary hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:41:46.521384+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46290-Gain as ready",
"entity_name": "ISCA-46290-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T17:41:46.511873+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46290-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46290-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T17:41:44.436123+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-46290-Gain were changed from Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures",
"entity_name": "ISCA-46290-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T17:41:36.877961+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for Region: ISCA-46290-Gain were set to PMID: 19716111",
"entity_name": "ISCA-46290-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T17:41:21.459205+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46290-Gain as Green List (high evidence)",
"entity_name": "ISCA-46290-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T17:41:21.443216+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46290-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46290-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T17:41:13.250419+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed Region: ISCA-46290-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: 27605428, 29707408, 16900295; Phenotypes: Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801, intellectual disability, seizures; Mode of inheritance: None",
"entity_name": "ISCA-46290-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T17:37:32.082463+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-46295-Loss as ready",
"entity_name": "ISCA-46295-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:37:32.072424+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46295-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46295-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:37:28.427095+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-46295-Loss were changed from Chromosome 15q13.3 microdeletion syndrome MIM#612001 to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures",
"entity_name": "ISCA-46295-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:37:21.416815+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for Region: ISCA-46295-Loss was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ISCA-46295-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:37:14.004808+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-46295-Loss as Green List (high evidence)",
"entity_name": "ISCA-46295-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:37:13.997268+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-46295-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-46295-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:37:01.036280+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed Region: ISCA-46295-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 15q13.3 microdeletion syndrome MIM#612001, intellectual disability, seizures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ISCA-46295-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:32:14.681554+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37478-Loss as ready",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:32:14.673845+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37478-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:32:10.650203+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37478-Loss as Green List (high evidence)",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:32:10.639691+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37478-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:32:02.568537+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37478-Loss was added\nRegion: ISCA-37478-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37478-Loss.\nMode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37478-Loss were set to 22045295\nPhenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270\nReview for Region: ISCA-37478-Loss was set to GREEN\nAdded comment: Well established CNV. Deletion classes The deletion classes are subdivided into Type 1 and Type 2 based on their proximal breakpoints (BP1-BP3 and BP2-BP3, respectively). \nSources: Expert list",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:24:58.627361+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed region:ISCA-37478-Loss from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-01T17:14:28.968499+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on Region: ISCA-37468-Loss: Contiguous gene deletion syndrome, RP2 responsible for retinal dystrophy. ID not observed in individuals with deletions involving RP2 and ZNF630, arguing against involvement of ZNF630 in the ID component observed with larger deletions.",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:12:58.618657+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37468-Loss as ready",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:12:58.610053+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37468-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:12:56.355324+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578 to Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:12:45.449769+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37468-Loss as Green List (high evidence)",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:12:45.439299+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37468-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T17:12:36.350873+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed Region: ISCA-37468-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome Xp11.3 deletion syndrome MIM#300578, intellectual disability, retinal dystrophy; Mode of inheritance: None",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T16:46:27.651130+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37468-Loss was added\nRegion: ISCA-37468-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for Region: ISCA-37468-Loss were set to PMID: 22126752; 16385466; 20186789\nPhenotypes for Region: ISCA-37468-Loss were set to Chromosome Xp11.3 deletion syndrome MIM#300578\nReview for Region: ISCA-37468-Loss was set to GREEN\nAdded comment: Established CNV\r\n\r\nOne-third of XL retinal dystrophies are accounted for by RP2 mutations at the Xp11.23 locus. \r\n\r\nRecurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation \nSources: Expert list",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T16:41:15.622631+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "commented on Region: ISCA-37500-Loss: Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects.\r\n\r\nContains an imprinted region",
"entity_name": "ISCA-37500-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T16:30:36.708734+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37486-Loss was added\nRegion: ISCA-37486-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37486-Loss were set to PMID: 19914906\nPhenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913\nReview for Region: ISCA-37486-Loss was set to GREEN\nAdded comment: Established CNV\r\n\r\nThe most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures ( approximately 40%), behavioural problems ( approximately 40%), congenital anomalies ( approximately 30%), and autism ( approximately 20%)\r\n\r\nOne subject with the deletion was asymptomatic \nSources: Expert list",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T16:27:28.838821+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37493-Loss was added\nRegion: ISCA-37493-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37493-Loss were set to PMID: 28283832\nPhenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome\nReview for Region: ISCA-37493-Loss was set to GREEN\nAdded comment: Established CNV\r\n\r\nAKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance \nSources: Expert list",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T16:20:48.752778+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37494-Gain was added\nRegion: ISCA-37494-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37494-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for Region: ISCA-37494-Gain were set to PMID: 25927380\nPhenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815\nReview for Region: ISCA-37494-Gain was set to GREEN\nAdded comment: Established CNV\r\n\r\nThis syndrome has recently been described in 9 males with cognitive impairment, behavioral problems, and distinctive facial features; and 6 females with milder phenotypes.\r\n\r\nPrenatally diagnosed de novo int22h1/int22h2-mediated deletion in a healthy female infant. \nSources: Expert list",
"entity_name": "ISCA-37494-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T16:03:40.912528+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37500-Loss was added\nRegion: ISCA-37500-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37500-Loss were set to PMID: 20921022\nPhenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome\tMIM#614294\nReview for Region: ISCA-37500-Loss was set to GREEN\nAdded comment: Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects. \nSources: Expert list",
"entity_name": "ISCA-37500-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T16:01:01.704764+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37501-Loss was added\nRegion: ISCA-37501-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37501-Loss were set to PMID: 20206336\nPhenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355\nReview for Region: ISCA-37501-Loss was set to GREEN\nAdded comment: These individuals have common features, including mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, and hand, foot, and limb abnormalities. \nSources: Expert list",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T15:57:58.553789+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-46290-Gain was added\nRegion: ISCA-46290-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for Region: ISCA-46290-Gain were set to PMID: 19716111\nPhenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801\nReview for Region: ISCA-46290-Gain was set to GREEN\nAdded comment: Males and females affected - Most affected females show preferential activation of the duplicated X chromosome. \nSources: Expert list",
"entity_name": "ISCA-46290-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T15:35:25.453418+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-46295-Loss was added\nRegion: ISCA-46295-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-46295-Loss were set to PMID: 19289393\nPhenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001\nReview for Region: ISCA-46295-Loss was set to GREEN\nAdded comment: Well established CNV\r\n\r\nPMID: 19289393: incomplete penetrance well reported for autism, mental retardation, and psychiatric disorders\r\n\r\nSpecific genes implicated in the phenotype include CHRNA7 (118511) and OTUD7A (612024) \nSources: Expert list",
"entity_name": "ISCA-46295-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T08:33:51.165845+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37415-Loss as ready",
"entity_name": "ISCA-37415-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T08:33:51.155247+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37415-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37415-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T08:33:47.465716+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37415-Loss as Green List (high evidence)",
"entity_name": "ISCA-37415-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T08:33:47.456150+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37415-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37415-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T08:33:36.831692+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37415-Loss was added\nRegion: ISCA-37415-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37415-Loss.\nMode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37415-Loss were set to 24105370; 23637818; 22523559\nPhenotypes for Region: ISCA-37415-Loss were set to 16p13.11 microdeletion syndrome; intellectual disability; autism; epilepsy\nReview for Region: ISCA-37415-Loss was set to GREEN\nAdded comment: Well established CNV. \nSources: Expert list",
"entity_name": "ISCA-37415-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T08:03:44.600791+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37415-Gain as ready",
"entity_name": "ISCA-37415-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T08:03:44.593179+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37415-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37415-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T08:03:41.116068+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37415-Gain as Green List (high evidence)",
"entity_name": "ISCA-37415-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T08:03:41.103294+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37415-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37415-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T08:03:33.147098+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37415-Gain was added\nRegion: ISCA-37415-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37415-Gain.\nMode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37415-Gain were set to 30287593\nPhenotypes for Region: ISCA-37415-Gain were set to 16p13.11 microduplication syndrome; intellectual disability; autism; aortopathy\nReview for Region: ISCA-37415-Gain was set to GREEN\nAdded comment: 16p13.11 are associated with DD/ID/autism. Duplication contains MYH11, and there is also evidence of association with aortopathy. \nSources: Expert list",
"entity_name": "ISCA-37415-Gain",
"entity_type": "region"
},
{
"created": "2020-12-01T07:52:54.727531+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37411-Loss as ready",
"entity_name": "ISCA-37411-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T07:52:54.715987+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37411-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37411-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T07:52:51.286275+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37411-Loss as Green List (high evidence)",
"entity_name": "ISCA-37411-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T07:52:51.278982+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37411-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37411-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T07:52:43.630550+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to Region: ISCA-37411-Loss.",
"entity_name": "ISCA-37411-Loss",
"entity_type": "region"
},
{
"created": "2020-12-01T07:52:34.700032+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37411-Loss was added\nRegion: ISCA-37411-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for Region: ISCA-37411-Loss were set to 19372089; 20979196\nPhenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM#\t612001; intellectual disability; epilepsy\nReview for Region: ISCA-37411-Loss was set to GREEN\nAdded comment: Well established CNV, variable penetrance and expressivity. Individuals with homozygous deletions have neurodevelopmental problems, hypotonia, epileptic encephalopathy. \nSources: Expert list",
"entity_name": "ISCA-37411-Loss",
"entity_type": "region"
}
]
}