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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2048",
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"results": [
{
"created": "2019-12-11T15:46:27.412284+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1308",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SCAMP5 as Amber List (moderate evidence)",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:46:27.404461+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1308",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: scamp5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:46:15.770271+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1307",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SCAMP5 was added\ngene: SCAMP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCAMP5 were set to PMID: 31439720\nPhenotypes for gene: SCAMP5 were set to no OMIM number yet\nReview for gene: SCAMP5 was set to AMBER\nAdded comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect. \nSources: Literature",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:46:11.229879+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA5A as ready",
"entity_name": "SEMA5A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:46:11.222194+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA5A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:46:01.576510+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA5A as Amber List (moderate evidence)",
"entity_name": "SEMA5A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:46:01.568822+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA5A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:45:43.129800+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA5A was added\ngene: SEMA5A was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA5A were set to 26395558\nPhenotypes for gene: SEMA5A were set to Intellectual disability; autism\nReview for gene: SEMA5A was set to AMBER\nAdded comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.\r\n\r\n2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies \nSources: Literature",
"entity_name": "SEMA5A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:43:26.308704+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCC2 as ready",
"entity_name": "SMARCC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:43:26.301426+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcc2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:43:15.641265+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCC2 as Green List (high evidence)",
"entity_name": "SMARCC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:43:15.633991+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcc2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:42:56.068564+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCC2 was added\ngene: SMARCC2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCC2 were set to 30580808\nPhenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362\nReview for gene: SMARCC2 was set to GREEN\nAdded comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features. \nSources: Literature",
"entity_name": "SMARCC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:42:39.692651+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1306",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SCAPER as Green List (high evidence)",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:42:39.685228+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1306",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:42:27.227919+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1305",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SCAPER was added\ngene: SCAPER was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCAPER were set to PMID: 28794130; 31069901; 31192531; 30723319\nPhenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa; OMIM #618195\nReview for gene: SCAPER was set to GREEN\nAdded comment: 28 patients from 14 unrelated families with ID and retinitis pigmentosa (some with BBS phenotype), and homozygous or compound heterozygous mutations in SCAPER gene. No functional evidence of specific variants.\r\n\r\nAnalyses of SCAPER expression in human and mouse brain revealed an upregulation of SCAPER expression during cortical development and a higher expression of SCAPER in neurons compared to neural progenitors. \nSources: Literature",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:40:17.036419+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCD1 as ready",
"entity_name": "SMARCD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:40:17.028898+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:40:07.683335+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCD1 as Green List (high evidence)",
"entity_name": "SMARCD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:40:07.675508+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:39:45.381652+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCD1 was added\ngene: SMARCD1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCD1 were set to 30879640\nPhenotypes for gene: SMARCD1 were set to Intellectual disability; dysmorphic features\nReview for gene: SMARCD1 was set to GREEN\nAdded comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet. \nSources: Literature",
"entity_name": "SMARCD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:36:46.193479+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCD1 as ready",
"entity_name": "SMARCD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:36:46.186143+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:35:57.083485+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCC2 as ready",
"entity_name": "SMARCC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:35:56.999606+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcc2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:35:17.140828+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA5A as ready",
"entity_name": "SEMA5A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:35:17.132690+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA5A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:33:41.436504+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRSK2 as ready",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:33:41.429443+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brsk2 has been classified as Green List (High Evidence).",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:33:31.432330+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRSK2 as Green List (high evidence)",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:33:31.425108+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brsk2 has been classified as Green List (High Evidence).",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:33:12.577388+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRSK2 was added\ngene: BRSK2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRSK2 were set to 30879638\nPhenotypes for gene: BRSK2 were set to Intellectual disability; autism\nReview for gene: BRSK2 was set to GREEN\nAdded comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available). \nSources: Literature",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:31:16.248204+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRSK2 as ready",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:31:16.240188+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brsk2 has been classified as Green List (High Evidence).",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:31:09.299360+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRSK2 as Green List (high evidence)",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:31:09.292147+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brsk2 has been classified as Green List (High Evidence).",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:30:57.723221+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRSK2 was added\ngene: BRSK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRSK2 were set to 30879638\nPhenotypes for gene: BRSK2 were set to Intellectual disability; autism\nReview for gene: BRSK2 was set to GREEN\nAdded comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available). \nSources: Literature",
"entity_name": "BRSK2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:30:48.173792+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1302",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SEMA5A as Amber List (moderate evidence)",
"entity_name": "SEMA5A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:30:48.165957+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1302",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: sema5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA5A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:30:33.334747+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1301",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SEMA5A was added\ngene: SEMA5A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA5A were set to PMID: 26395558\nPhenotypes for gene: SEMA5A were set to no OMIM number yet\nReview for gene: SEMA5A was set to AMBER\nAdded comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.\r\n\r\n2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies. \nSources: Literature",
"entity_name": "SEMA5A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:25:44.833420+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCORL1 as ready",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:25:44.823505+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcorl1 has been classified as Green List (High Evidence).",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:25:33.605557+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCORL1 as Green List (high evidence)",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:25:33.598261+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcorl1 has been classified as Green List (High Evidence).",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:25:13.987154+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCORL1 was added\ngene: BCORL1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: BCORL1 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 gene: BCORL1 were set to 24123876; 30941876\nPhenotypes for gene: BCORL1 were set to Shukla-Vernon syndrome, MIM#301029\nReview for gene: BCORL1 was set to GREEN\nAdded comment: Four unrelated families reported altogether; some mothers mildly affected. \nSources: Literature",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:22:31.912870+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCORL1 as ready",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:22:31.905434+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcorl1 has been classified as Green List (High Evidence).",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:22:24.902938+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCORL1 as Green List (high evidence)",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:22:24.893379+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcorl1 has been classified as Green List (High Evidence).",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:22:11.367141+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1299",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SMARCC2 as Green List (high evidence)",
"entity_name": "SMARCC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:22:11.363753+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCORL1 was added\ngene: BCORL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: BCORL1 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 gene: BCORL1 were set to 24123876; 30941876\nPhenotypes for gene: BCORL1 were set to Shukla-Vernon syndrome, MIM#301029\nReview for gene: BCORL1 was set to GREEN\nAdded comment: Four unrelated families reported altogether; some mothers mildly affected. \nSources: Literature",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:22:11.358834+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1299",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: smarcc2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:21:30.386124+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1298",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SMARCC2 was added\ngene: SMARCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCC2 were set to PMID: 30580808\nPhenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362\nReview for gene: SMARCC2 was set to GREEN\nAdded comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features. They found heterozygous de novo SMARCC2 variants, but no functional evidence of specific variants. Transcriptomic analysis of fibroblasts from affected individuals highlighted a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4. \nSources: Literature",
"entity_name": "SMARCC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:17:08.772716+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL11B as ready",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:17:08.765216+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11b has been classified as Green List (High Evidence).",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:16:58.887194+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCL11B as Green List (high evidence)",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:16:58.879947+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11b has been classified as Green List (High Evidence).",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:16:39.097549+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCL11B was added\ngene: BCL11B was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BCL11B were set to 29985992\nPhenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM#\t618092\nReview for gene: BCL11B was set to GREEN\nAdded comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay. \nSources: Literature",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:16:16.249633+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1297",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SMARCD1 as Green List (high evidence)",
"entity_name": "SMARCD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:16:16.242212+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1297",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: smarcd1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:15:50.563499+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1296",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SMARCD1 was added\ngene: SMARCD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCD1 were set to PMID: 30879640\nPhenotypes for gene: SMARCD1 were set to no OMIM number yet\nReview for gene: SMARCD1 was set to GREEN\nAdded comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet. No functional evidence of some variants was not conclusive with immunoblot or co-immunoprecipitation studies. Targeted knockdown of Drosophila ortholog Bap60 in the mushroom body of adult flies causes defects in long-term memory. Mushroom-body-specific transcriptome analysis revealed that Bap60 is required for context-dependent expression of genes involved in neuron function and development in juvenile flies when synaptic connections are actively being formed in response to experience. T \nSources: Literature",
"entity_name": "SMARCD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:14:50.973284+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL11B as ready",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:14:50.965197+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11b has been classified as Green List (High Evidence).",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:14:42.396003+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCL11B as Green List (high evidence)",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:14:42.388146+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11b has been classified as Green List (High Evidence).",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:14:24.758428+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCL11B was added\ngene: BCL11B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BCL11B were set to 29985992\nPhenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM#\t618092\nReview for gene: BCL11B was set to GREEN\nAdded comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay. \nSources: Literature",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:09:21.440849+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1293",
"user_name": "chirag patel",
"item_type": "entity",
"text": "edited their review of gene: SNRPE: Changed rating: RED",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:09:06.963493+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1293",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SNRPE was added\ngene: SNRPE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SNRPE were set to Hypotrichosis 11; OMIM #615059\nReview for gene: SNRPE was set to AMBER\nAdded comment: 1 patient with de novo heterozygous missense SNRPE mutation, with non-syndromic primary microcephaly and intellectual disability. SNRPE encodes SmE and they showed that the microcephaly-linked SmE variant is unable to interact with the SMN complex and as a consequence fails to assemble into U snRNPs. This results in widespread mRNA splicing alterations in fibroblast cells derived from this patient. Similar alterations were observed in HEK293 cells upon SmE depletion that could be rescued by the expression of wild type but not mutant SmE. Depletion of SmE in zebrafish causes aberrant mRNA splicing alterations and reduced brain size, reminiscent of the patient microcephaly phenotype. \nSources: Literature",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:06:06.403384+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1292",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SOX4 as Green List (high evidence)",
"entity_name": "SOX4",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:06:06.394527+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1292",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: sox4 has been classified as Green List (High Evidence).",
"entity_name": "SOX4",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:05:56.192961+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1291",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SOX4 was added\ngene: SOX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX4 were set to PMID: 30661772\nPhenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506\nReview for gene: SOX4 was set to GREEN\nAdded comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells. \nSources: Literature",
"entity_name": "SOX4",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:02:11.497912+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATN1 as ready",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:02:11.490325+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atn1 has been classified as Green List (High Evidence).",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:02:04.533662+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1290",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SVBP as Green List (high evidence)",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:02:04.524767+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1290",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: svbp has been classified as Green List (High Evidence).",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:02:01.228282+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATN1 were changed from to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:01:38.734879+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATN1 were set to ",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:01:31.161244+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1289",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SVBP was added\ngene: SVBP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SVBP were set to PMID: 31363758; 30607023\nPhenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569\nReview for gene: SVBP was set to GREEN\nAdded comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \nSources: Literature",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:01:17.570639+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:00:58.055685+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827498; Phenotypes: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:58:18.272238+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1288",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TANC2 as Green List (high evidence)",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:58:18.264695+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1288",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tanc2 has been classified as Green List (High Evidence).",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:58:11.660741+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATN1 as ready",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:58:11.653263+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atn1 has been classified as Green List (High Evidence).",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:58:06.719097+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATN1 as Green List (high evidence)",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:58:06.711845+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atn1 has been classified as Green List (High Evidence).",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:57:47.187782+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1287",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: TANC2 was added\ngene: TANC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TANC2 were set to PMID: 31616000\nPhenotypes for gene: TANC2 were set to no OMIM number yet\nReview for gene: TANC2 was set to GREEN\nAdded comment: 19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes. \nSources: Literature",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:57:38.923860+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATN1 was added\ngene: ATN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATN1 were set to 30827498\nPhenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494\nReview for gene: ATN1 was set to GREEN\nAdded comment: Eight unrelated individuals with de novo heterozygous variants in this gene and syndromic ID; all variants result in substitutions within the highly conserved 16-amino acid histidine-rich 'HX repeat' motif near the C terminus. \nSources: Literature",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:56:17.586520+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATN1 as ready",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:56:17.579035+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atn1 has been classified as Green List (High Evidence).",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:56:12.460669+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATN1 as Green List (high evidence)",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:56:12.453384+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atn1 has been classified as Green List (High Evidence).",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:55:59.204293+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATN1 was added\ngene: ATN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATN1 were set to 30827498\nPhenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494\nReview for gene: ATN1 was set to GREEN\nAdded comment: Eight unrelated individuals with de novo heterozygous variants in this gene and syndromic ID; all variants result in substitutions within the highly conserved 16-amino acid histidine-rich 'HX repeat' motif near the C terminus. \nSources: Literature",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:51:33.535187+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APC2 as ready",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:51:33.527943+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apc2 has been classified as Green List (High Evidence).",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:51:29.264362+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APC2 as Green List (high evidence)",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:51:29.254649+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apc2 has been classified as Green List (High Evidence).",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:51:21.923148+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1284",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TARS as Amber List (moderate evidence)",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:51:21.912710+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1284",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tars has been classified as Amber List (Moderate Evidence).",
"entity_name": "TARS",
"entity_type": "gene"
},
{
"created": "2019-12-11T14:50:59.630259+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APC2 was added\ngene: APC2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APC2 were set to 31585108\nPhenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677\nReview for gene: APC2 was set to GREEN\nAdded comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum. \nSources: Literature",
"entity_name": "APC2",
"entity_type": "gene"
}
]
}