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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=448",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=446",
"results": [
{
"created": "2024-05-23T14:41:09.011770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAPBP: Changed phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571, MHC class I deficiency 3, MIM# 620814",
"entity_name": "TAPBP",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:40:06.648964+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAP2 were changed from Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis to MHC class I deficiency 2, MIM#\t620813; Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis",
"entity_name": "TAP2",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:39:13.376044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAP2 were changed from Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis to MHC class I deficiency 2, MIM#\t620813; Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis",
"entity_name": "TAP2",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:24:58.436182+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "changed review comment from: Established gene disease association with Aicardi-Goutières Syndrome\r\nHeterogeneity with variable phenotype, ranges from preserved cognition to severe intellectual disability\r\nTREX1-related Aicardi Goutières syndrome have higher impairment (31559893)\r\nID common presenting feature (PMID: 25604658); to: Established gene disease association with Aicardi-Goutières Syndrome\r\nHeterogeneity with variable phenotype, ranges from preserved cognition to severe intellectual disability\r\nTREX1-related Aicardi Goutières syndrome have higher impairment (PMID: 31559893)\r\nID common presenting feature (PMID: 25604658)",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:24:51.243190+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "edited their review of gene: TREX1: Changed publications: 25604658, 16845398, 17357087, 31559893",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-05-23T14:24:31.448713+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25604658, 16845398, 17357087; Phenotypes: Aicardi-Goutieres syndrome MONDO:0018866; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-05-23T13:47:02.822408+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK3 as ready",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2024-05-23T13:47:02.791556+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2024-05-23T13:46:49.380697+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus to Wolcott-Rallison syndrome MONDO:0009192; neonatal diabetes mellitus MONDO:0016391",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2024-05-23T13:46:36.248702+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2AK3 were set to 19837917",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2024-05-23T13:45:51.451030+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA4 as ready",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2024-05-23T13:45:51.434854+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata4 has been classified as Green List (High Evidence).",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2024-05-23T13:45:44.706311+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA4 were changed from to neonatal diabetes mellitus MONDO:0016391",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2024-05-23T13:44:49.161162+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2024-05-23T12:50:45.498172+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24696446, 20854389; Phenotypes: neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2024-05-23T12:09:23.066154+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20581743, 22962692, 32524025, 28049534; Phenotypes: pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2024-05-23T12:08:11.691150+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: AGA was added\ngene: AGA was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGA were set to 8252036, 20301412\nPhenotypes for gene: AGA were set to Canavan disease MONDO:0010079\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/10/2020 - https://search.clinicalgenome.org/CCID:004188\r\n\r\nCanavan disease is most prevalent in the AJ population however has been reported in other individuals as well. The most common variants in AJ population are p.Glu285Ala and p.Tyr231Ter (PMID:8252036). The most common variant reported in the non-Jewish population is p.Ala305Glu (PMID:20301412). All variants have been reported as pathogenic on ClinVar with at least 2/4 stars.\r\n\r\nVariants have been reported in >10 individuals with elevated N-acetylaspartic acid (NAA) levels and LoF is the mechanism of disease. \nSources: ClinGen",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-05-23T11:59:49.385902+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 34965699, 8288049, 28765322; Phenotypes: insulin-resistance syndrome type A MONDO:0012520, Rabson-Mendenhall syndrome MONDO:0009874, Donohue syndrome MONDO:0009517; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2024-05-23T11:54:04.913833+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ASNS was added\ngene: ASNS was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573\nPhenotypes for gene: ASNS were set to congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258\nReview for gene: ASNS was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004187\r\n\r\nWell established gene-disease association. Individuals have been reported with an inborn error of asparagine synthetase metabolism. \nSources: ClinGen",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-05-23T11:01:55.261614+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17855560, 18451997, 18162506, 18192540, 32034745, 30182532; Phenotypes: diabetes mellitus, permanent neonatal 4 MONDO:0030089, maturity-onset diabetes of the young type 10 MONDO:0013240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2024-05-23T11:00:40.279261+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASL were set to 2263616, 17326097, 19703900, 12559843, 22081021\nPhenotypes for gene: ASL were set to argininosuccinic aciduria MONDO:0008815\nReview for gene: ASL was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 15/09/2018 - https://search.clinicalgenome.org/CCID:004186\r\n\r\nEstablished gene-disease association with reported individuals having an inborn error of argininosuccinate lyase metabolism. \nSources: ClinGen",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-23T11:00:17.401805+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2024-05-23T11:00:13.192832+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2024-05-23T10:58:19.185271+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17855560, 18451997, 18162506, 18192540, 32034745, 30182532; Phenotypes: diabetes mellitus, permanent neonatal 4 MONDO:0030089, maturity-onset diabetes of the young type 10 MONDO:0013240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2024-05-23T10:41:09.088190+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: AMT: Changed rating: GREEN",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-05-23T10:40:36.075184+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045\nPhenotypes for gene: ARG1 were set to hyperargininemia MONDO:0008814\nReview for gene: ARG1 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004163\r\n\r\nReported in >5 unrelated probands with manifestations of hyperammonemia and hyperargininemia. It is an inborn error of L-arginine metabolism.\r\nTwo knock out mouse models have been conducted attesting to the LoF mechanism of disease. \nSources: ClinGen",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-05-23T10:37:34.320933+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32574610; Phenotypes: congenital malabsorptive diarrhea 4 MONDO:0012479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2024-05-23T10:31:54.479151+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: AMT was added\ngene: AMT was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMT were set to 27362913, 8005589, 25231368, 26179960, 26371980, 27164344, 6863283, 18941301\nPhenotypes for gene: AMT were set to glycine encephalopathy MONDO:0011612\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 24/05/2019 - https://search.clinicalgenome.org/CCID:004120\r\n\r\nEstablished gene-disease association with around 15-20% of the reported individuals having glycine encephalopathy (inborn error of glycine metabolism). LoF is the mechanism of disease that has been supported by biochemical functional assays (PMID: 6863283, 18941301) \nSources: ClinGen",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2024-05-22T23:45:36.689601+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Kirsty Choi",
"item_type": "entity",
"text": "reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21266382, 8392290, 8392291, 26510951; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), 220111, developmental delay, hypotonia, mild facial dysmorphism, chronic well-compensated metabolic acidosis, high mortality due to episodes of severe acidosis and coma, hypertension, cerebrospinal fluid lactate levels, decreased blood bicarbonate levels, microvesicular steatosis, psychomotor delay, ataxia, hypotonia, transient tachypnea of the newborn, poor sucking, tremor, hypoglycemia, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2024-05-22T21:47:30.133135+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Anissa Johnson",
"item_type": "entity",
"text": "changed review comment from: PMID: 23873973: 1 patient identified, homozygous with a variant in SLC35A1. Parents were heterozygous for the variant. Presented with \"intellectual disability, seizures, ataxia, macrothrombocytopaenia, renal and cardiac involvement, and abnormal protein glycosylation\". Biochemical assay showed \"combined N- and O-glycosylation abnormalities and specific reduction in sialylation\".\r\nAR inheritance.; to: PMID: 23873973: 1 patient identified, homozygous with a variant in SLC35A1. Parents, consanguineous, were heterozygous for the variant. Presented with \"intellectual disability, seizures, ataxia, macrothrombocytopaenia, renal and cardiac involvement, and abnormal protein glycosylation\". Biochemical assay showed \"combined N- and O-glycosylation abnormalities and specific reduction in sialylation\".\r\nAR inheritance.",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-22T21:38:26.702457+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Anissa Johnson",
"item_type": "entity",
"text": "changed review comment from: PMID: 23873973: 1 patient identified, homozygous with a variant in SLC35A1. Parents were heterozygous for the variant. Presented with \"intellectual disability, seizures, ataxia, macrothrombocytopaenia, renal and cardiac involvement, and abnormal protein glycosylation\". Biochemical assay showed \"combined N- and O-glycosylation abnormalities and specific reduction in sialylation\".; to: PMID: 23873973: 1 patient identified, homozygous with a variant in SLC35A1. Parents were heterozygous for the variant. Presented with \"intellectual disability, seizures, ataxia, macrothrombocytopaenia, renal and cardiac involvement, and abnormal protein glycosylation\". Biochemical assay showed \"combined N- and O-glycosylation abnormalities and specific reduction in sialylation\".\r\nAR inheritance.",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-22T21:37:51.006637+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Anissa Johnson",
"item_type": "entity",
"text": "commented on gene: SLC35A1: PMID: 23873973: 1 patient identified, homozygous with a variant in SLC35A1. Parents were heterozygous for the variant. Presented with \"intellectual disability, seizures, ataxia, macrothrombocytopaenia, renal and cardiac involvement, and abnormal protein glycosylation\". Biochemical assay showed \"combined N- and O-glycosylation abnormalities and specific reduction in sialylation\".",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-22T21:07:26.079830+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Anissa Johnson",
"item_type": "entity",
"text": "reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23873973; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2024-05-22T21:02:28.285416+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.0",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:59:44.171026+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.111",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302, 11779494; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:53:48.965250+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.6",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:51:38.314850+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.23",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302, 11779494; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:48:16.978972+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.245",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 15333585, 20133615, 32534991, 11779494, 16088910; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:47:13.234190+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.76",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, , images, related citations] [Full Text] 15175260, 19451691, 17554302; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:44:18.098735+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.278",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:41:59.993537+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.109",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982; Phenotypes: lIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:33:16.090796+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: lIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:26:44.777303+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.186",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:24:11.278053+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.61",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302, 11779494, 10395545; Phenotypes: LIG4, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: None",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:18:26.676377+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.260",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16357942, 32534991, 32471509, 11779494, 16088910, 15333585; Phenotypes: LIG4 syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:17:21.548212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1794",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:14:11.383217+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.118",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 10911993, 15333585, 9809069, 12023982, 11040211; Phenotypes: LIG4 Syndrome, Multiple Myeloma, Resistance to; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:12:48.255992+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Raluca Rusu",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: RED; Mode of pathogenicity: Other; Publications: PMID: 27182967, 34659124, 32194975, 29175836, 37195360, 30900330, 37745698; Phenotypes: MIRAGE Syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:11:50.932767+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.19",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:10:47.553172+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.366",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:06:58.083291+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, DNA ligase IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-05-22T20:04:10.574748+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "sabitha sateesh",
"item_type": "entity",
"text": "reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31230762, 31904126, 28256214, 31904120, 31924505, 31205438, 1325650, 17021166; Phenotypes: Intellectual disability, autism, motor delay, epileptic seizures, uncoordinated oral movements, gastrointestinal disturbances, sleep problems.; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:48:04.054615+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 14656875; Phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:45:54.981302+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30247636' 34159722, 36395340; Phenotypes: Thrombocytopenia 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:44:23.575348+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19118303, 20799326, 25492228, 17318259, 20616219; Phenotypes: Neutropaenia, severe congenital 4, autosomal recessive, Dursun syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:43:31.916861+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19405097, 25754594, 33394227, 33224012; Phenotypes: Fanconi anemia, complementation group L; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:42:46.003644+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17452773; Phenotypes: Fanconi anemia, complementation group I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:42:03.106813+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 9806548, 12552564; Phenotypes: Fanconi anaemia, complementation group G; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:41:20.239682+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10615118, 31288759; Phenotypes: Fanconi anaemia, complementation group F; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:40:44.854732+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:40:03.030192+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:39:22.052028+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:38:38.387033+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:37:57.457517+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:37:17.473058+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25581430, 25807284; Phenotypes: Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:36:40.050257+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24507776, 27185855; Phenotypes: Bone marrow failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:36:06.541725+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23623386; Phenotypes: Fanconi anemia, complementation group Q; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:35:32.290458+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19036076, 3124897, 33968054; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:34:40.016103+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28331068, 31151987; Phenotypes: Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:34:01.877702+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: DUT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28073829, 35611808; Phenotypes: Bone marrow failure and diabetes mellitus syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:33:27.390727+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: DNASE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29259162, 31775019; Phenotypes: Autoinflammatory-pancytopenia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:32:50.230677+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: None; Publications: 29700810, 28062395, 27346687; Phenotypes: Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:32:13.561988+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:32:11.409359+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Reetoo Ramessur",
"item_type": "entity",
"text": "reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301648, 29239743, 25246298, 19525956, 21102625, 33307271, 35418820; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:31:11.441930+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10607561, 26712909, 25920683; Phenotypes: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:29:22.897569+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: DCLRE1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 10699141, 20479256, 35007328; Phenotypes: Dyskeratosis congenita, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:28:36.936969+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: ; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:28:00.585547+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753537, 26324699, 33511998, 32966608; Phenotypes: Neutropaenia, severe congenital, 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:27:05.431703+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34115842, 25597510, 25597511; Phenotypes: 3-@METHYLGLUTACONIC ACIDURIA, TYPE VIIB, 3-@METHYLGLUTACONIC ACIDURIA, TYPE VIIA, NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:23:05.716630+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2024-05-22T18:22:02.095254+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23716552, 32293259, 31191338, 29885034; Phenotypes: Dyserythropoietic anemia, congenital, type Ib; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C15orf41",
"entity_type": "gene"
},
{
"created": "2024-05-22T17:46:56.921288+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ALDH7A1 was added\ngene: ALDH7A1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH7A1 were set to 19142996, 16491085, 22784480, 29053735\nPhenotypes for gene: ALDH7A1 were set to pyridoxine-dependent epilepsy MONDO:0009945\nReview for gene: ALDH7A1 was set to GREEN\nAdded comment: Classified Definitive on 26/07/2019 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004097\r\n\r\nReported in 10 individuals and functional evidence supporting the gene-disease association. \nSources: ClinGen",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-05-22T17:32:44.478463+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2024-05-22T17:28:36.899112+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: BRCA2: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16825431; Phenotypes: Fanconi anaemia, complementation group D1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2024-05-22T17:27:21.545437+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23269703, 29133208, 25472942, 29712865; Phenotypes: Fanconi anemia, complementation group S; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2024-05-22T17:24:57.349220+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: Thrombocytopaenia 2; Phenotypes: 21211618; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2024-05-22T17:24:12.432010+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10029606; Phenotypes: Anemia, sideroblastic, 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2024-05-22T17:23:20.333773+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19043417, 19043416; Phenotypes: Reticular dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2024-05-22T17:15:24.220515+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ALDH4A1 was added\ngene: ALDH4A1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH4A1 were set to 2624476, 13835167, 4369405, 8621661\nPhenotypes for gene: ALDH4A1 were set to hyperprolinemia type 2 MONDO:0009401\nReview for gene: ALDH4A1 was set to GREEN\nAdded comment: Classified Definitive on 23/10/2020 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004094\r\n\r\nWell reported gene-disease association in individuals with abnormal biochemistry. Most individuals present with elevated P5C levels \nSources: ClinGen",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2024-05-22T15:57:27.034909+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "edited their review of gene: ADA2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2024-05-22T15:56:52.869897+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "edited their review of gene: ACD: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2024-05-22T15:56:04.504168+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ADH5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33147438; Phenotypes: AMED syndrome, digenic, Aplastic anaemia, myelodysplasia, short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ADH5",
"entity_type": "gene"
},
{
"created": "2024-05-22T15:52:57.966713+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25075847, 30406060, 12804991, 24552285, 10756095, 31652311, 26867732, 15926889, 20147294, 24552284; Phenotypes: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME, SNEDDON SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2024-05-22T15:51:05.961449+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.32",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38649918, 36507858; Phenotypes: Retinitis pigmentosa with or without situs inversus MIM#615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2024-05-22T15:47:20.128331+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32170967, 24458642, 28347698, 28487785, 29220674, 11311002, 23756437, 2837653, 31970217, 10928857, 12325076; Phenotypes: Dystonia-Deafness Syndrome 1, Baraitser-Winter Syndrome 1, Becker Nevus Syndrome and Becker Nevi, Congenital Smooth Muscle Hamartoma with or without Hemihypertrophy, Thrombocytopenia 8 with Dysmorphic Features and Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2024-05-22T15:39:57.105268+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25205116, 15537664, 25233904, 15181449, 18535244, 23103865, 17237768, 17237767, 15231715; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2024-05-22T14:53:46.629018+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Laura Mazurkijevic",
"item_type": "entity",
"text": "reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20531442, 19346217, 20157829, 15635066; Phenotypes: Holoprosencephaly 2, autosomal dominant, MIM#157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2024-05-22T13:47:05.097423+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Hnin Aung",
"item_type": "entity",
"text": "changed review comment from: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestation for truncating variants have been observed. \r\n\r\nMost of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938).\r\n\r\nFunctional evidence suggests altered gene product with possible dominant negative effect (PMID: 22168587, 28471274). Knock in mouse model available for E403X presenting with similar phenotype as seen in the human patients, including growth retardation and variable presentation of psychomotor deficit (PMID: 32924834). A small number THRA sequence variant (missense) reported among autism cohort [PMID: 28856816, 25621899].; to: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestations for truncating variants have been observed. \r\n\r\nMost of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938).\r\n\r\nFunctional evidence suggests altered gene product with possible dominant negative effect (PMID: 22168587, 28471274). Knock in mouse model available for E403X presenting with similar phenotype as seen in the human patients, including growth retardation and variable presentation of psychomotor deficit (PMID: 32924834). A small number THRA sequence variant (missense) reported among autism cohort [PMID: 28856816, 25621899].",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2024-05-22T13:41:52.026284+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Hnin Aung",
"item_type": "entity",
"text": "changed review comment from: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestation for truncating variants have been observed. \r\n\r\nMost of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938).\r\n\r\nFunctional evidence suggests altered gene product with possible dominant negative effect (PMID: 22168587, 28471274). Knock in mouse model available for E403X presenting with similar phenotype as seen in the human patients, including growth retardation and variable presentation of psychomotor deficit (PMID: 32924834). A small number THRA sequence variant (missense) reported among autism cohort [PMID: 28856816, 25621899].; to: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestation for truncating variants have been observed. \r\n\r\nMost of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938).\r\n\r\nFunctional evidence suggests altered gene product with possible dominant negative effect (PMID: 22168587, 28471274). Knock in mouse model available for E403X presenting with similar phenotype as seen in the human patients, including growth retardation and variable presentation of psychomotor deficit (PMID: 32924834). A small number THRA sequence variant (missense) reported among autism cohort [PMID: 28856816, 25621899].",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2024-05-22T13:41:01.909719+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Hnin Aung",
"item_type": "entity",
"text": "reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22494134, 23940126, 24847461, 25670821, 26037512, 25621899, 27144938, 28856816, 30842990, 37469961; Phenotypes: Hypothyroidism congenital nongoitrous 6 (MIM 614450), Intellectual disability syndromic, Growth retardation, Facial dysmorphism, Constipation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THRA",
"entity_type": "gene"
}
]
}