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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1494",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1492",
"results": [
{
"created": "2020-11-28T11:54:35.398842+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPAA1 was added\ngene: GPAA1 was added to Congenital Disorders of Glycosylation. Sources: Expert Review\nMode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPAA1 were set to 29100095\nPhenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, MIM#\t617810\nReview for gene: GPAA1 was set to GREEN\nAdded comment: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. \nSources: Expert Review",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:17:40.963179+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37400-Loss as ready",
"entity_name": "ISCA-37400-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T11:17:40.954723+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37400-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37400-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T11:17:35.260561+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37400-Loss as Green List (high evidence)",
"entity_name": "ISCA-37400-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T11:17:35.250101+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37400-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37400-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T11:16:24.463273+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to Region: ISCA-37400-Loss.",
"entity_name": "ISCA-37400-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T11:16:14.513048+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37400-Loss was added\nRegion: ISCA-37400-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM#\t611913; autism; intellectual disability; seizures\nReview for Region: ISCA-37400-Loss was set to GREEN\nAdded comment: Well established recurrent CNV. \nSources: Expert list",
"entity_name": "ISCA-37400-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T11:10:55.822308+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to Region: ISCA-37400-Gain.",
"entity_name": "ISCA-37400-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T11:10:32.399298+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37400-Gain as ready",
"entity_name": "ISCA-37400-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T11:10:32.383775+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37400-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37400-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T11:09:15.056582+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37400-Gain as Green List (high evidence)",
"entity_name": "ISCA-37400-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T11:09:15.046368+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37400-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37400-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T11:09:03.459877+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37400-Gain was added\nRegion: ISCA-37400-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881\nPhenotypes for Region: ISCA-37400-Gain were set to Chromosome 16p11.2 duplication syndrome, MIM#\t614671; intellectual disability; autism\nReview for Region: ISCA-37400-Gain was set to GREEN\nAdded comment: Well established recurrent CNV. \nSources: Expert list",
"entity_name": "ISCA-37400-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T10:20:56.973135+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37397-Loss as ready",
"entity_name": "ISCA-37397-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T10:20:56.963035+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37397-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37397-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T10:20:52.813812+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37397-Loss as Green List (high evidence)",
"entity_name": "ISCA-37397-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T10:20:52.806672+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37397-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37397-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T10:20:43.460044+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established recurrent CNV, distinct from the proximal 22.q11.2 deletion causing VCFS/DiGeorge syndrome. \nSources: Expert list; to: Well established recurrent CNV, distinct from the proximal 22q11.2 deletion causing VCFS/DiGeorge syndrome. \r\nSources: Expert list",
"entity_name": "ISCA-37397-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T10:20:31.935538+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37397-Loss was added\nRegion: ISCA-37397-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37397-Loss.\nMode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902\nPhenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies\nReview for Region: ISCA-37397-Loss was set to GREEN\nAdded comment: Well established recurrent CNV, distinct from the proximal 22.q11.2 deletion causing VCFS/DiGeorge syndrome. \nSources: Expert list",
"entity_name": "ISCA-37397-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T10:13:49.674689+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37397-Gain as ready",
"entity_name": "ISCA-37397-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T10:13:49.631480+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37397-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37397-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T10:13:45.321938+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37397-Gain as Green List (high evidence)",
"entity_name": "ISCA-37397-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T10:13:45.311590+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37397-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37397-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T10:13:36.057095+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37397-Gain was added\nRegion: ISCA-37397-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37397-Gain.\nMode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37397-Gain were set to 21671380; 31479204\nPhenotypes for Region: ISCA-37397-Gain were set to Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal; intellectual disability; dysmorphic features; congenital anomalies\nReview for Region: ISCA-37397-Gain was set to GREEN\nAdded comment: Well established recurrent CNV. \nSources: Expert list",
"entity_name": "ISCA-37397-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T08:28:54.276475+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37394-Loss were changed from Chromosome 2q37 deletion syndrome, MIM#\t600430; brachydactyly, intellectual disability to Chromosome 2q37 deletion syndrome, MIM#\t600430; brachydactyly; intellectual disability",
"entity_name": "ISCA-37394-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:24:56.712104+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37396-Loss as ready",
"entity_name": "ISCA-37396-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:24:56.701207+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37396-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37396-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:24:52.614305+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37396-Loss as Green List (high evidence)",
"entity_name": "ISCA-37396-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:24:52.603409+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37396-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37396-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:24:45.418717+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to Region: ISCA-37396-Loss.",
"entity_name": "ISCA-37396-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:24:36.808747+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37396-Loss was added\nRegion: ISCA-37396-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321; 22359776\nPhenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive\nReview for Region: ISCA-37396-Loss was set to GREEN\nAdded comment: Well established recurrent CNV. \nSources: Expert list",
"entity_name": "ISCA-37396-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:16:26.400324+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37392-Gain were changed from 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation to Chromosome 7q11.23 duplication syndrome, MIM#\t609757; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T08:16:02.521951+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of Region: ISCA-37392-Gain: Changed phenotypes: Chromosome 7q11.23 duplication syndrome, MIM#\t609757, intellectual disability, hypotonia, macrocephaly, seizures, aortic dilatation",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2020-11-28T08:15:04.945332+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to Region: ISCA-37394-Loss.",
"entity_name": "ISCA-37394-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:13:52.701084+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37392-Loss were changed from Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease to Williams-Beuren syndrome, MIM#\t194050; intellectual disability; growth retardation; cardiovascular disease",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:13:32.365038+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of Region: ISCA-37392-Loss: Changed phenotypes: Williams-Beuren syndrome, MIM#\t194050, intellectual disability, growth retardation, cardiovascular disease",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:12:44.604936+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37394-Loss as ready",
"entity_name": "ISCA-37394-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:12:44.596639+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37394-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37394-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:12:40.628197+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37394-Loss as Green List (high evidence)",
"entity_name": "ISCA-37394-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:12:40.617059+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37394-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37394-Loss",
"entity_type": "region"
},
{
"created": "2020-11-28T08:12:21.309914+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37394-Loss was added\nRegion: ISCA-37394-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review\nMode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37394-Loss were set to 20691407\nPhenotypes for Region: ISCA-37394-Loss were set to Chromosome 2q37 deletion syndrome, MIM#\t600430; brachydactyly, intellectual disability\nReview for Region: ISCA-37394-Loss was set to GREEN\nAdded comment: Well established recurrent CNV. \nSources: Expert Review",
"entity_name": "ISCA-37394-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:57:14.676776+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37390-Loss were changed from Cri-du-chat syndrome; intellectual disability; microcephaly to Cri-du-chat syndrome MIM#123450; intellectual disability; microcephaly",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:56:54.169659+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of Region: ISCA-37390-Loss: Changed phenotypes: Cri-du-chat syndrome MIM#123450, intellectual disability, microcephaly",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:56:02.825512+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37393-Gain as ready",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:56:02.812464+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37393-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:55:59.395847+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37393-Gain as Green List (high evidence)",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:55:59.388256+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37393-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:55:49.086852+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37393-Gain was added\nRegion: ISCA-37393-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review\nSV/CNV tags were added to Region: ISCA-37393-Gain.\nMode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM#\t115470; coloboma; anal atresia; heart and renal malformations\nReview for Region: ISCA-37393-Gain was set to GREEN\nAdded comment: Well established CNV. \nSources: Expert Review",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:50:05.173532+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37392-Loss as ready",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:50:05.163119+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37392-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:50:01.441439+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37392-Loss as Green List (high evidence)",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:50:01.426613+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37392-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:49:53.170131+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37392-Loss was added\nRegion: ISCA-37392-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review\nSV/CNV tags were added to Region: ISCA-37392-Loss.\nMode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37392-Loss were set to 20301427\nPhenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease\nReview for Region: ISCA-37392-Loss was set to GREEN\nAdded comment: Well established recurrent CNV. \nSources: Expert Review",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:43:56.419986+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to Region: ISCA-37392-Gain.",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:42:37.743970+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37392-Gain as ready",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:42:37.733712+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37392-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:42:33.810451+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37392-Gain as Green List (high evidence)",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:42:33.801182+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37392-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:42:23.587420+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37392-Gain was added\nRegion: ISCA-37392-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review\nMode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37392-Gain were set to 33187326; 27615053; 26610320\nPhenotypes for Region: ISCA-37392-Gain were set to 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation\nReview for Region: ISCA-37392-Gain was set to GREEN\nAdded comment: Well established recurrent CNV. \nSources: Expert Review",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2020-11-27T20:38:00.806561+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37390-Loss as ready",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:38:00.794537+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37390-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:37:58.198006+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for Region: ISCA-37390-Loss were set to ",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:37:40.462887+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of Region: ISCA-37390-Loss: Changed publications: 16953888",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:36:46.908458+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to Region: ISCA-37390-Loss.",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:36:39.165527+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37390-Loss as Green List (high evidence)",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:36:39.157807+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37390-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:36:29.516439+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37390-Loss was added\nRegion: ISCA-37390-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review\nMode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37390-Loss were set to Cri-du-chat syndrome; intellectual disability; microcephaly\nReview for Region: ISCA-37390-Loss was set to GREEN\nAdded comment: Well established recurrent CNV. \nSources: Expert Review",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2020-11-27T20:30:40.311982+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added Panel Common deletion and duplication syndromes\nSet panel types to: Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-11-27T19:38:53.590248+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS2 as ready",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:38:53.582680+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Green List (High Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:37:57.478621+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARS2 as Green List (high evidence)",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:37:57.468949+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Green List (High Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:37:25.408086+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KARS as ready",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:37:25.396883+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:37:15.425355+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KARS were changed from deafness and leukodystrophy to Deafness, autosomal recessive 89, MIM#\t613916; Leukodystrophy",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:36:08.002917+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KARS as Green List (high evidence)",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:36:07.992502+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:35:30.802217+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KARS as ready",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:35:30.794453+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:35:26.791901+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KARS were changed from Hearing loss; Charcot-Marie-Tooth disease, recessive intermediate to deafness with progressive leukodystrophy",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:35:12.089486+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KARS were set to ",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:34:59.851669+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KARS as Green List (high evidence)",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:34:59.841189+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Green List (High Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:34:24.030884+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOMER2 as ready",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:34:24.019212+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: homer2 has been classified as Green List (High Evidence).",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:32:14.342207+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOMER2 as Green List (high evidence)",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:32:14.334535+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: homer2 has been classified as Green List (High Evidence).",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:31:45.834547+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGF as ready",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:31:45.824208+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgf has been classified as Green List (High Evidence).",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:31:36.558762+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HGF as Green List (high evidence)",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:31:36.550892+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgf has been classified as Green List (High Evidence).",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:31:07.450440+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LDLR as ready",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:31:07.437272+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldlr has been classified as Green List (High Evidence).",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:08:32.616896+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LDLR were changed from to Hypercholesterolemia, familial, 1 143890",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:08:02.980275+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LDLR were set to ",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:07:29.310745+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LDLR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:05:47.794138+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HARS2 as ready",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:05:47.786174+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hars2 has been classified as Green List (High Evidence).",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:05:38.516426+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HARS2 were changed from Perrault syndrome to Perrault syndrome; autosomal recessive sensorineural hearing loss",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:05:22.294118+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HARS2 as Green List (high evidence)",
"entity_name": "HARS2",
"entity_type": "gene"
}
]
}