HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220817,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1244",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1242",
"results": [
{
"created": "2021-08-11T18:36:26.468104+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP3 as ready",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T18:36:26.457148+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp3 has been classified as Green List (High Evidence).",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T18:36:20.246212+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LTBP3 were set to 28084688; 25669657",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T18:35:59.324741+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344874, 25899461, 25669657, 29625025; Phenotypes: Dental anomalies and short stature, MIM# 601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T18:35:37.701468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP3 as ready",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T18:35:37.691992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp3 has been classified as Green List (High Evidence).",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T18:35:21.079529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP3 were changed from to Dental anomalies and short stature, MIM# 601216; Geleophysic dysplasia 3, MIM# 617809; Thoracic aneurysm",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T18:35:02.622063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LTBP3 were set to ",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T18:34:16.835176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LTBP3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T18:33:55.215446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344874, 25899461, 25669657, 29625025, 27068007, 34150014; Phenotypes: Dental anomalies and short stature, MIM# 601216, Geleophysic dysplasia 3, MIM# 617809, Thoracic aneurysm; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:59:31.300066+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Consider changing the listed disease association relevant to this panel.; to: Consider changing the listed disease association relevant to this panel: currently set to 'tooth agenesis'.",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:59:05.031784+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LTBP3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Dental anomalies and short stature, MIM# 601216; Mode of inheritance: None",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:57:46.918097+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP3 as ready",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:57:46.905073+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:56:15.378310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:56:01.378195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARIH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:54:15.941568+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIDD1 as ready",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:54:15.929437+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pidd1 has been classified as Green List (High Evidence).",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:54:04.102143+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIDD1 as Green List (high evidence)",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:54:04.091706+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pidd1 has been classified as Green List (High Evidence).",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:53:39.612514+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIDD1 was added\ngene: PIDD1 was added to Lissencephaly and Band Heterotopia. Sources: Expert Review\nMode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIDD1 were set to 28397838; 29302074; 33414379; 34163010\nPhenotypes for gene: PIDD1 were set to Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum\nReview for gene: PIDD1 was set to GREEN\nAdded comment: There is enough evidence to include this gene in the current panel with green rating.\r\n\r\nBiallelic PIDD1 pathogenic variants have been reported in 26 individuals (11 families) with DD (all), variable degrees of ID (mild to severe), behavioral (eg. aggression/self-mutilation in several, ADHD) and/or psychiatric abnormalities (ASD, psychosis in 5 belonging to 3 families), well-controlled epilepsy is some (9 subjects from 6 families) and MRI abnormalities notably abnormal gyration pattern (pachygyria with predominant anterior gradient) as well as corpus callosum anomalies (commonly thinning) in several. Dysmorphic features have been reported in almost all, although there has been no specific feature suggested.\r\n\r\nThe first reports on the phenotype associated with biallelic PIDD1 mutations were made by Harripaul et al (2018 - PMID: 28397838) and Hu et al (2019 - PMID: 29302074) [both studies investigating large cohorts of individuals with ID from consanguineous families].\r\n\r\nSheikh et al (2021 - PMID: 33414379) provided details on the phenotype of 15 individuals from 5 families including those from the previous 2 reports and studied provided evidence on the role of PIDD1 and the effect of variants.\r\n\r\nZaki et al (2021 - PMID: 34163010) reported 11 additional individuals from 6 consanguineous families, summarize the features of all subjects published in the literature and review the neuroradiological features of the disorder.\r\n\r\nPIDD1 encodes p53-induced death domain protein 1. The protein is part of the PIDDosome, a multiprotein complex also composed of the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 and induces apoptosis in response to DNA damage.\r\n\r\nThere are 5 potential PIDD1 mRNA transcript variants with NM_145886.4 corresponding to the longest. Similar to the protein encoded by CRADD, PIDD1 contains a death domain (DD - aa 774-893). Constitutive post-translational processing gives PIDD1-N, PIDD1-C the latter further processed into PIDD1-CC (by auto-cleavage). Serine residues at pos. 446 and 588 are involved in this autoprocessing generating PIDD1-C (aa 446-910) and PIDD1-CC (aa 774-893). The latter is needed for caspase-2 activation.\r\n\r\nMost (if not all) individuals belonged to consanguineous families of different origins and harbored pLoF or missense variants.\r\n\r\nVariants reported so far include : c.2587C>T; p.Gln863* / c.1909C>T ; p.Arg637* / c.2443C>T / p.Arg815Trp / c.2275-1G>A which upon trap assay was shown to lead to skipping of ex15 with direct splicing form exon14 to the terminal exon 16 (resulting to p.Arg759Glyfs*1 with exlcusion of the entire DD) / c.2584C>T; p.Arg862Trp / c.1340G>A; p.Trp447* / c.2116_2120del; p.Val706His*, c.1564_1565del; p.Gly602fs*26\r\n\r\nEvidence so far provided includes:\r\n- Biallelic CRADD variants cause a NDD disorder and a highly similar gyration pattern.\r\n- Confirmation of splicing effect (eg. for c.2275-1G>A premature stop in position 760) or poor expression (NM_145886.3:c.2587C>T; p.Gln863*). Arg815Trp did not affect autoprocessing or protein stability.\r\n- Abnormal localization pattern, loss of interaction with CRADD and failure to activate caspase-2 (MDM2 cleavage assay) [p.Gln863* and Arg815Trp]\r\n- Available expression data from GTEx (PIDD1 having broad expression in multiple tissues, but higher in brain cerebellum) as well as BrainSpan and PsychEncode studies suggesting high coexpression of PIDD1, CRADD and CASP2 in many regions in the developing human brain.\r\n- Variants in other genes encoding proteins interacting with PIDD1 (MADD, FADD, DNAJ, etc) are associated with NDD.\r\n\r\nPidd-1 ko mice (ex3-15 removal) lack however CNS-related phenotypes. These show decreased anxiety but no motor anomalies. This has also been the case with Cradd-/- mice displaying no significant CNS phenotypes without lamination defects. \nSources: Expert Review",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:51:41.936368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIDD1 as ready",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:51:41.924532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pidd1 has been classified as Green List (High Evidence).",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:51:10.680072+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIDD1 as Green List (high evidence)",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:51:10.669346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pidd1 has been classified as Green List (High Evidence).",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:50:49.438912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIDD1 was added\ngene: PIDD1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIDD1 were set to 28397838; 29302074; 33414379; 34163010\nPhenotypes for gene: PIDD1 were set to Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum\nReview for gene: PIDD1 was set to GREEN\nAdded comment: There is enough evidence to include this gene in the current panel with green rating.\r\n\r\nBiallelic PIDD1 pathogenic variants have been reported in 26 individuals (11 families) with DD (all), variable degrees of ID (mild to severe), behavioral (eg. aggression/self-mutilation in several, ADHD) and/or psychiatric abnormalities (ASD, psychosis in 5 belonging to 3 families), well-controlled epilepsy is some (9 subjects from 6 families) and MRI abnormalities notably abnormal gyration pattern (pachygyria with predominant anterior gradient) as well as corpus callosum anomalies (commonly thinning) in several. Dysmorphic features have been reported in almost all, although there has been no specific feature suggested.\r\n\r\nThe first reports on the phenotype associated with biallelic PIDD1 mutations were made by Harripaul et al (2018 - PMID: 28397838) and Hu et al (2019 - PMID: 29302074) [both studies investigating large cohorts of individuals with ID from consanguineous families].\r\n\r\nSheikh et al (2021 - PMID: 33414379) provided details on the phenotype of 15 individuals from 5 families including those from the previous 2 reports and studied provided evidence on the role of PIDD1 and the effect of variants.\r\n\r\nZaki et al (2021 - PMID: 34163010) reported 11 additional individuals from 6 consanguineous families, summarize the features of all subjects published in the literature and review the neuroradiological features of the disorder.\r\n\r\nPIDD1 encodes p53-induced death domain protein 1. The protein is part of the PIDDosome, a multiprotein complex also composed of the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 and induces apoptosis in response to DNA damage.\r\n\r\nThere are 5 potential PIDD1 mRNA transcript variants with NM_145886.4 corresponding to the longest. Similar to the protein encoded by CRADD, PIDD1 contains a death domain (DD - aa 774-893). Constitutive post-translational processing gives PIDD1-N, PIDD1-C the latter further processed into PIDD1-CC (by auto-cleavage). Serine residues at pos. 446 and 588 are involved in this autoprocessing generating PIDD1-C (aa 446-910) and PIDD1-CC (aa 774-893). The latter is needed for caspase-2 activation.\r\n\r\nMost (if not all) individuals belonged to consanguineous families of different origins and harbored pLoF or missense variants.\r\n\r\nVariants reported so far include : c.2587C>T; p.Gln863* / c.1909C>T ; p.Arg637* / c.2443C>T / p.Arg815Trp / c.2275-1G>A which upon trap assay was shown to lead to skipping of ex15 with direct splicing form exon14 to the terminal exon 16 (resulting to p.Arg759Glyfs*1 with exlcusion of the entire DD) / c.2584C>T; p.Arg862Trp / c.1340G>A; p.Trp447* / c.2116_2120del; p.Val706His*, c.1564_1565del; p.Gly602fs*26\r\n\r\nEvidence so far provided includes:\r\n- Biallelic CRADD variants cause a NDD disorder and a highly similar gyration pattern.\r\n- Confirmation of splicing effect (eg. for c.2275-1G>A premature stop in position 760) or poor expression (NM_145886.3:c.2587C>T; p.Gln863*). Arg815Trp did not affect autoprocessing or protein stability.\r\n- Abnormal localization pattern, loss of interaction with CRADD and failure to activate caspase-2 (MDM2 cleavage assay) [p.Gln863* and Arg815Trp]\r\n- Available expression data from GTEx (PIDD1 having broad expression in multiple tissues, but higher in brain cerebellum) as well as BrainSpan and PsychEncode studies suggesting high coexpression of PIDD1, CRADD and CASP2 in many regions in the developing human brain.\r\n- Variants in other genes encoding proteins interacting with PIDD1 (MADD, FADD, DNAJ, etc) are associated with NDD.\r\n\r\nPidd-1 ko mice (ex3-15 removal) lack however CNS-related phenotypes. These show decreased anxiety but no motor anomalies. This has also been the case with Cradd-/- mice displaying no significant CNS phenotypes without lamination defects.\r\n\r\nThere is currently no associated phenotype in OMIM. PIDD1 is listed in the DD panel of G2P (PIDD1-related NDD / biallelic / loss of function / probable) . SysID includes PIDD1 among the current primary ID genes. \nSources: Expert Review",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:49:54.236642+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIDD1 as ready",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:49:54.226606+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pidd1 has been classified as Green List (High Evidence).",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:48:25.356065+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIDD1 as Green List (high evidence)",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:48:25.346867+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pidd1 has been classified as Green List (High Evidence).",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:47:44.317498+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIDD1 as ready",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:47:44.306809+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pidd1 has been classified as Green List (High Evidence).",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:47:32.234870+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIDD1 as Green List (high evidence)",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:47:32.224483+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pidd1 has been classified as Green List (High Evidence).",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:42:33.284608+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.228",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COLGALT1 as ready",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:42:33.272513+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.228",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: colgalt1 has been classified as Green List (High Evidence).",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:41:12.147467+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.228",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COLGALT1 as Green List (high evidence)",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:41:12.137642+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.228",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: colgalt1 has been classified as Green List (High Evidence).",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:41:03.377949+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.227",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COLGALT1 was added\ngene: COLGALT1 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COLGALT1 were set to 30412317; 33709034; 31759980\nPhenotypes for gene: COLGALT1 were set to Brain small vessel disease 3 MIM#618360\nReview for gene: COLGALT1 was set to GREEN\nAdded comment: 3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy (paediatric onset), lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. \nSources: Literature",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:39:37.758200+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COLGALT1 as ready",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:39:37.746029+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: colgalt1 has been classified as Green List (High Evidence).",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:39:17.075778+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COLGALT1 as Green List (high evidence)",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:39:17.065546+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: colgalt1 has been classified as Green List (High Evidence).",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:39:10.300069+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COLGALT1 was added\ngene: COLGALT1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COLGALT1 were set to 30412317; 33709034; 31759980\nPhenotypes for gene: COLGALT1 were set to Brain small vessel disease 3 MIM#618360\nReview for gene: COLGALT1 was set to GREEN\nAdded comment: 3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos \nSources: Literature",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:38:38.963064+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COLGALT1 as ready",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:38:38.948372+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: colgalt1 has been classified as Green List (High Evidence).",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:38:19.842158+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COLGALT1 as Green List (high evidence)",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:38:19.833019+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: colgalt1 has been classified as Green List (High Evidence).",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:37:48.822628+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COLGALT1 was added\ngene: COLGALT1 was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COLGALT1 were set to 30412317; 33709034; 31759980\nPhenotypes for gene: COLGALT1 were set to Brain small vessel disease 3 MIM#618360\nReview for gene: COLGALT1 was set to GREEN\nAdded comment: 3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos \nSources: Literature",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:36:18.259399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8735",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COLGALT1 as ready",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:36:18.250100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8735",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: colgalt1 has been classified as Green List (High Evidence).",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:35:22.975316+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8735",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COLGALT1 as Green List (high evidence)",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:35:22.964946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8735",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: colgalt1 has been classified as Green List (High Evidence).",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T17:33:43.320976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8734",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COLGALT1 was added\ngene: COLGALT1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COLGALT1 were set to 30412317; 33709034; 31759980\nPhenotypes for gene: COLGALT1 were set to Brain small vessel disease 3 MIM#618360\nReview for gene: COLGALT1 was set to GREEN\nAdded comment: 3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos. \nSources: Other",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2021-08-11T16:44:19.501861+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL11A1 as Green List (high evidence)",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T16:44:19.487419+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col11a1 has been classified as Green List (High Evidence).",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T16:32:16.351430+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL11A1 was added\ngene: COL11A1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL11A1 were set to 8872475; 20301479\nPhenotypes for gene: COL11A1 were set to Stickler syndrome, type II MIM#604841\nReview for gene: COL11A1 was set to GREEN\ngene: COL11A1 was marked as current diagnostic\nAdded comment: Stickler syndrome is a multi-system connective tissue disorder. Monoallelic loss of function variants in COL11A1 are a well-established cause of Stickler syndrome. \nSources: Literature",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T16:29:28.273500+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COL2A1 as ready",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T16:29:28.262610+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Green List (High Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T16:20:54.582223+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL2A1 as Green List (high evidence)",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T16:20:54.572935+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Green List (High Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T16:20:18.034384+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL2A1 was added\ngene: COL2A1 was added to Aortopathy_Connective Tissue Disorders. Sources: Other\nMode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL2A1 were set to 1677770; 20301479\nPhenotypes for gene: COL2A1 were set to Stickler syndrome, type I MIM#108300\nReview for gene: COL2A1 was set to GREEN\ngene: COL2A1 was marked as current diagnostic\nAdded comment: Stickler syndrome is a multi-system connective tissue disorder. Monoallelic loss of function variants in COL2A1 are the most common cause of Stickler syndrome. \nSources: Other",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T15:49:06.287446+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LTBP3 as Amber List (moderate evidence)",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T15:49:06.277142+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ltbp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T15:48:34.192076+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LTBP3 was added\ngene: LTBP3 was added to Aortopathy_Connective Tissue Disorders. Sources: Other\nMode of inheritance for gene: LTBP3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LTBP3 were set to 29625025; 34150014\nPhenotypes for gene: LTBP3 were set to Thoracic aortic aneurysms and dissections\nReview for gene: LTBP3 was set to AMBER\nAdded comment: 2 families with biallelic variants with thoracic aortic aneurysms and dissections and other arterial aneurysms, along with skeletal and dental defects. TAA hasn't been reported in other dental anomalies and short stature cases with biallelic LTBP3 variants. Individuals with heterozygous mutations in LTBP3 may also be at increased risk for later-onset thoracic aortic disease, 9/338 isolated TAD individuals had rare heterozygous variants. Null mouse model had thoracic aortic aneurysms \nSources: Other",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:42:27.007162+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4042",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: JAKMIP1 as ready",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:42:26.993854+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4042",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: jakmip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:42:19.390269+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1163",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: JAKMIP1 as ready",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:42:19.376502+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1163",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: jakmip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:42:15.903356+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4042",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: JAKMIP1 as Amber List (moderate evidence)",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:42:15.893152+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4042",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: jakmip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:42:04.188729+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1163",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: JAKMIP1 as Amber List (moderate evidence)",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:42:04.177773+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1163",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: jakmip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:39:56.202088+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1162",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: JAKMIP1 was added\ngene: JAKMIP1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: JAKMIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: JAKMIP1 were set to 29158550; 26627310; 27799067\nPhenotypes for gene: JAKMIP1 were set to Intellectual disability; Seizures\nReview for gene: JAKMIP1 was set to AMBER\nAdded comment: Identified in two independent patients in the literature with a mouse model. Patient 1 (27799067) with developmental delay, speech delay, and cognitive impairment; self-injurious and aggressive behaviour, seizures, dysmorphic features. De-novo missense JAKMIP1 (p.D586H). Patient 2 (29158550) with feeding difficulties, hypotonia, epilepsy, severe ID, no active speech, kyphoscoliosis, constipation, autism, short stature. Splice variant c.1432-2A>G, no segregation or RNA data available. KO mouse model (27799067) displays social deficits, stereotyped activity, abnormal postnatal vocalisations, and other autistic-like behaviours. \nSources: Literature",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:39:43.426972+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4041",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: JAKMIP1 was added\ngene: JAKMIP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: JAKMIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: JAKMIP1 were set to 29158550; 26627310; 27799067\nPhenotypes for gene: JAKMIP1 were set to Intellectual disability; Seizures\nReview for gene: JAKMIP1 was set to AMBER\nAdded comment: Identified in two independent patients in the literature with a mouse model. Patient 1 (27799067) with developmental delay, speech delay, and cognitive impairment; self-injurious and aggressive behaviour, seizures, dysmorphic features. De-novo missense JAKMIP1 (p.D586H). Patient 2 (29158550) with feeding difficulties, hypotonia, epilepsy, severe ID, no active speech, kyphoscoliosis, constipation, autism, short stature. Splice variant c.1432-2A>G, no segregation or RNA data available. KO mouse model (27799067) displays social deficits, stereotyped activity, abnormal postnatal vocalizations, and other autistic-like behaviors. \nSources: Literature",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:35:04.971283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8733",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: JAKMIP1 as ready",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:35:04.958963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8733",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: jakmip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:34:41.627600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8733",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: JAKMIP1 as Amber List (moderate evidence)",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:34:41.617860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8733",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: jakmip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T11:34:08.829479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8732",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: JAKMIP1 was added\ngene: JAKMIP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: JAKMIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: JAKMIP1 were set to 29158550; 26627310; 27799067\nPhenotypes for gene: JAKMIP1 were set to Intellectual disability; Seizures\nReview for gene: JAKMIP1 was set to AMBER\nAdded comment: Identified in two independent patients in the literature with a mouse model.\r\n\r\nPatient 1 (27799067) with developmental delay, speech delay, and cognitive impairment; self-injurious and aggressive behaviour, seizures, dysmorphic features. De-novo missense JAKMIP1 (p.D586H).\r\n\r\nPatient 2 (29158550) with feeding difficulties, hypotonia, epilepsy, severe ID, no active speech, kyphoscoliosis, constipation, autism, short stature. Splice variant c.1432-2A>G, no segregation or RNA data available.\r\n\r\nKO mouse model (27799067) displays social deficits, stereotyped activity, abnormal postnatal vocalizations, and other autistic-like behaviors. \nSources: Literature",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2021-08-11T10:29:35.782657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8731",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARIH1 as ready",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T10:29:35.771886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8731",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arih1 has been classified as Green List (High Evidence).",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T10:28:32.298195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8731",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARIH1 as Green List (high evidence)",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T10:28:32.288180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8731",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arih1 has been classified as Green List (High Evidence).",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T10:28:16.150285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8730",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARIH1 was added\ngene: ARIH1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: ARIH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARIH1 were set to 29689197; 32102558\nPhenotypes for gene: ARIH1 were set to Thoracic aortic aneurysm\nReview for gene: ARIH1 was set to GREEN\nAdded comment: 3 unrelated families: A de novo case (R171*) with thoracic aortic aneurysm (TAA), and 2 siblings with TAA and a missense (E15Q). Another proband with cerebrovascular aneurysm (family history of TAA) and a missense variant (E44G). Supporting functional assays of the variants and a drosophila model. \nSources: Other",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T10:24:31.911384+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARIH1 as ready",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T10:24:31.900498+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arih1 has been classified as Green List (High Evidence).",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T10:24:27.015296+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARIH1 as Green List (high evidence)",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T10:24:27.005955+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arih1 has been classified as Green List (High Evidence).",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T10:23:55.413040+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARIH1 was added\ngene: ARIH1 was added to Aortopathy_Connective Tissue Disorders. Sources: Other\nMode of inheritance for gene: ARIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARIH1 were set to 29689197; 32102558\nPhenotypes for gene: ARIH1 were set to Thoracic aortic aneurysm\nReview for gene: ARIH1 was set to GREEN\nAdded comment: 3 unrelated families: A de novo case (R171*) with thoracic aortic aneurysm (TAA), and 2 siblings with TAA and a missense (E15Q). Another proband with cerebrovascular aneurysm (family history of TAA) and a missense variant (E44G). Supporting functional assays of the variants and a drosophila model. \nSources: Other",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:51:25.028617+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ADAMTS17 as ready",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:51:25.018771+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adamts17 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:51:05.091451+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ADAMTS17 as Green List (high evidence)",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:51:05.079456+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adamts17 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:50:37.174451+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAMTS17 was added\ngene: ADAMTS17 was added to Aortopathy_Connective Tissue Disorders. Sources: Other\nMode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS17 were set to 19836009; 20301293\nPhenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive MIM#613195\nReview for gene: ADAMTS17 was set to GREEN\ngene: ADAMTS17 was marked as current diagnostic\nAdded comment: Weill-Marchesani syndrome is a multi-system connective tissue disorder. Biallelic variants in ADAMTS17 have been reported in at least 6 families. \nSources: Other",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:46:53.105255+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ADAMTS10 as ready",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:46:53.094459+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adamts10 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:46:50.248758+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ADAMTS10 as Green List (high evidence)",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:46:50.239148+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adamts10 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:46:20.096119+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAMTS10 was added\ngene: ADAMTS10 was added to Aortopathy_Connective Tissue Disorders. Sources: Other\nMode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS10 were set to 15368195; 20301293\nPhenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive MIM#277600\nReview for gene: ADAMTS10 was set to GREEN\ngene: ADAMTS10 was marked as current diagnostic\nAdded comment: Weill-Marchesani syndrome is a multi-system connective tissue disorder. Biallelic variants in ADAMTS10 have been reported in >10 families. \nSources: Other",
"entity_name": "ADAMTS10",
"entity_type": "gene"
}
]
}