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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=595",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=593",
"results": [
{
"created": "2023-06-01T12:10:16.084360+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5242",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: nsun6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:10:01.126491+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5241",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: NSUN6 as ready",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:10:01.111681+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5241",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: nsun6 has been removed from the panel.",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:09:17.612277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.911",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36697720, 36652330; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:08:56.215872+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1856",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:08:39.401783+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.232",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36697720, 36652330; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:08:12.317920+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1856",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:07:41.191865+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.911",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: PRSS8 as Amber List (moderate evidence)",
"entity_name": "PRSS8",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:07:41.178041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.911",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: prss8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRSS8",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:07:26.520592+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.4",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: PRSS8 as Amber List (moderate evidence)",
"entity_name": "PRSS8",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:07:26.508254+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.4",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: prss8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRSS8",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:07:22.746003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.910",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: PRSS8 as ready",
"entity_name": "PRSS8",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:07:22.729707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.910",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: prss8 has been removed from the panel.",
"entity_name": "PRSS8",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:07:17.788868+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1856",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:07:10.250983+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.3",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: PRSS8 as ready",
"entity_name": "PRSS8",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:07:10.214217+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.3",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: prss8 has been removed from the panel.",
"entity_name": "PRSS8",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:06:50.181619+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.527",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: RNH1 were set to PMID: 36935417; 37191094",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:06:49.901344+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1855",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: UNC79 as Green List (high evidence)",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:06:49.824423+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1855",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: unc79 has been classified as Green List (High Evidence).",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:05:37.763744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.910",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:05:37.691073+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.527",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:05:28.781124+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5241",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: UNC79 as Green List (high evidence)",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:05:28.712436+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5241",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: unc79 has been classified as Green List (High Evidence).",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:05:28.607046+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1855",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: UNC79 were changed from Complex neurodevelopmental disorder - MONDO:0100038 to Neurodevelopmental disorder (MONDO:0700092), UNC70-related",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:05:23.269597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.909",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: RNH1 were set to PMID: 36935417",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:05:03.388428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.909",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RNH1 as Green List (high evidence)",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:05:03.365599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.909",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Green List (High Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:04:45.961130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.908",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PRSS8 was added\ngene: PRSS8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRSS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRSS8 were set to 36715754\nPhenotypes for gene: PRSS8 were set to ichthyosis MONDO:0019269, PRSS8-related\nReview for gene: PRSS8 was set to AMBER\nAdded comment: PMID: 36715754\r\n1 family with 3 affected sons with congenital ichthyosis, consanguineous parents. All 3 affected members are homozygous for a canonical splice in PRSS8, quantitative RT-PCR showed a significant reduction in normal PRSS8 transcript.\r\n\r\nA second family with 4 affected members (proband and 3 cousins) with ichthyosis (3 also had autism), also consanguineous. Only the proband was tested who is homozygous for a missense in PTSS8. However this patient also had a TAAR1 missense (no disease association, but the paper suggests this could be responsible for the autism phenotype- KO mice have abnormal learning behaviour). \nSources: Literature",
"entity_name": "PRSS8",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:04:23.492583+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.526",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:04:12.491542+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5241",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:03:49.318914+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1855",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: UNC79 as Green List (high evidence)",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:03:49.244052+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1855",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: unc79 has been classified as Green List (High Evidence).",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:03:48.997635+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5240",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: UNC79 as Green List (high evidence)",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:03:48.977320+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5240",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: unc79 has been classified as Green List (High Evidence).",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:03:29.542047+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.526",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: RNH1 were set to PMID: 36935417",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:02:46.591683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.908",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37191094; Phenotypes: encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:02:10.446038+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5240",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: UNC79 were changed from Complex neurodevelopmental disorder - MONDO:0100038 to Neurodevelopmental disorder (MONDO:0700092), UNC70-related",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:01:53.737221+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1854",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: UNC79 as ready",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:01:53.696215+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1854",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: unc79 has been removed from the panel.",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:01:50.156120+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5239",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: UNC79 as ready",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:01:50.073347+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5239",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: unc79 has been removed from the panel.",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:01:47.242066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.908",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: UNC79 as ready",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:01:47.163121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.908",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: unc79 has been classified as Green List (High Evidence).",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:01:42.269150+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.526",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RNH1 as Green List (high evidence)",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:01:42.248063+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.526",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Green List (High Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:01:28.060622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.908",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorderMONDO:0700092 to Neurodevelopmental disorder (MONDO:0700092), UNC70-related",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:00:49.951198+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.3",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PRSS8 was added\ngene: PRSS8 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: PRSS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRSS8 were set to 36715754\nPhenotypes for gene: PRSS8 were set to ichthyosis MONDO:0019269, PRSS8-related\nReview for gene: PRSS8 was set to AMBER\nAdded comment: PMID: 36715754\r\n1 family with 3 affected sons with congenital ichthyosis, consanguineous parents. All 3 affected members are homozygous for a canonical splice in PRSS8, quantitative RT-PCR showed a significant reduction in normal PRSS8 transcript. \r\n\r\nA second family with 4 affected members (proband and 3 cousins) with ichthyosis (3 also had autism), also consanguineous. Only the proband was tested who is homozygous for a missense in PTSS8. However this patient also had a TAAR1 missense (no disease association, but the paper suggests this could be responsible for the autism phenotype- KO mice have abnormal learning behaviour). \nSources: Literature",
"entity_name": "PRSS8",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:00:45.580573+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1854",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RNH1 as Green List (high evidence)",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:00:45.490333+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1854",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Green List (High Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:00:40.388514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.907",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: UNC79 as Green List (high evidence)",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:00:40.368933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.907",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: unc79 has been classified as Green List (High Evidence).",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T12:00:24.668502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.906",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: NSUN6 was added\ngene: NSUN6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NSUN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSUN6 were set to 37226891\nPhenotypes for gene: NSUN6 were set to neurodevelopmental disorder MONDO:0700092, NSUN6-related\nReview for gene: NSUN6 was set to AMBER\nAdded comment: Three unrelated consanguineous families with developmental delay, intellectual disability, motor delay, and behavioral anomalies. WES detected homozygous variants:\r\n- p.(Leu9Glufs*3): even though authors say is is predicted to cause NMD, it actually is NMD escape. No further studies were performed. A deceased affected sibling and parents were NOT tested.\r\n- p.(Asp323Asn): Shown to result in a misfolded protein. Methylation assay showed mutant could not catalyze m5C deposition in transcribed tRNACys and tRNAThr substrates in vitro. One of the parents and both unaffected siblings were shown to be carriers.\r\n- p.(Glu441Profs*15): truncation (full protein is 470aa) which would result in loss of residues involved in recognition and methylation. Shown to result in a misfolded protein. Parents were shown carriers. \nSources: Literature",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:59:55.508431+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1854",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: RNH1 were set to PMID: 36935417; 37191094",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:59:55.500306+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOPORS were changed from Joubert syndrome, MONDO:0018772, TOPORS-related to Joubert syndrome, MONDO:0018772, TOPORS-related",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:59:43.983895+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.525",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37191094; Phenotypes: encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:59:31.724629+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOPORS as ready",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:59:31.709536+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: topors has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:59:22.278848+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: TOPORS.",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:58:47.744178+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1854",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RNH1 as Green List (high evidence)",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:58:47.721828+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1854",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rnh1 has been classified as Green List (High Evidence).",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:58:14.477642+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1854",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: RNH1 were set to PMID: 36935417; 37191094",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:58:00.395817+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOPORS were changed from macrocephaly; hypertelorism; down-slanting palpebral fissures; ptosis; polydactyly; respiratory failure; severe developmental delay to Joubert syndrome, MONDO:0018772, TOPORS-related",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:57:50.627903+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5239",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: NSUN6 was added\ngene: NSUN6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NSUN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSUN6 were set to 37226891\nPhenotypes for gene: NSUN6 were set to neurodevelopmental disorder MONDO:0700092, NSUN6-related\nReview for gene: NSUN6 was set to AMBER\nAdded comment: Three unrelated consanguineous families with developmental delay, intellectual disability, motor delay, and behavioral anomalies. WES detected homozygous variants:\r\n- p.(Leu9Glufs*3): even though authors say is is predicted to cause NMD, it actually is NMD escape. No further studies were performed. A deceased affected sibling and parents were NOT tested.\r\n- p.(Asp323Asn): Shown to result in a misfolded protein. Methylation assay showed mutant could not catalyze m5C deposition in transcribed tRNACys and tRNAThr substrates in vitro. One of the parents and both unaffected siblings were shown to be carriers.\r\n- p.(Glu441Profs*15): truncation (full protein is 470aa) which would result in loss of residues involved in recognition and methylation. Shown to result in a misfolded protein. Parents were shown carriers. \nSources: Literature",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:57:00.728242+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1853",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: RNH1 were set to PMID: 36935417",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:56:48.850658+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOPORS as Amber List (moderate evidence)",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:56:48.841864+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: topors has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:56:28.126536+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1853",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:56:06.972313+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1853",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: UNC79: Changed phenotypes: Neurodevelopmental disorder - MONDO:0700092",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:56:03.788017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.906",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: HMGCR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37167966, 36745799; Phenotypes: autosomal recessive limb-girdle muscular dystrophy (MONDO: 0015152), HMGCR-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCR",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:55:54.652848+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1853",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:55:19.465506+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1853",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:55:02.947050+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.24",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.\r\nClinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.\r\nRegions of homozygosity found in these three probands.\r\nAppears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.\r\nThis is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). \r\n \r\nSources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.\r\nClinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.\r\nRegions of homozygosity on chromosome 9 that includes the TOPORS gene was found in these three probands.\r\nAppears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.\r\nThis is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). \r\n \r\nSources: Literature",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:54:52.058966+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5239",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: UNC79: Changed phenotypes: Neurodevelopmental disorderMONDO:0700092",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:54:47.360792+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "0.145",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: HMGCR was added\ngene: HMGCR was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMGCR were set to PMID: 37167966; 36745799\nPhenotypes for gene: HMGCR were set to autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related\nReview for gene: HMGCR was set to GREEN\nAdded comment: PMID: 37167966 reports nine affected individuals from five unrelated families with hypomorphic biallelic variants. Clinical presentations ranges from 4 months to 10 years, and included hydrops, delayed delayed motor milestones, prominent calves, and neck weakness. Seven missense identified, one in-frame deletion and one non-canonical splice variant. Functional studies of three missense variants demonstrated reduced exhibit significant enzymatic activity impairment relative to wild-type (WT) HMGCR protein.\r\n\r\nPMID: 36745799 also reports a homozygous loss-of-function missense variant. \nSources: Literature",
"entity_name": "HMGCR",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:54:42.985448+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1853",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:54:30.281666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.906",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UNC79 was added\ngene: UNC79 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UNC79 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UNC79 were set to PMID:37183800\nPhenotypes for gene: UNC79 were set to Neurodevelopmental disorderMONDO:0700092\nReview for gene: UNC79 was set to AMBER\nAdded comment: PMID:37183800 Bayat et al 2023 report 6 unrelated patients with heterozygous NMD-predicted LoF variants in UNC79 - x1 canonical splice site variant, x5 nonsense/frameshift. 5 were confirmed de novo, 1 not identified in mother - father unavailable for testing. All variants absent in gnomAD and v2 pLI score for UNC79 is 1.\r\n\r\nPatients with UNC79 variants were identified through GeneMatcher or an international network of Epilepsy and Genetics departments. x1 patient underwent duo exome sequencing, remaining had trio exome sequencing - no other causative variants identified.\r\n\r\nPhenotypic features included:\r\n- 4/6 autistic features\r\n- 5/6 patients mild-moderate ID\r\n- 4/6 behavioural issues (aggression, stereotypies) \r\n- 4/6 epilepsy (focal to bilateral tonic-clonic seizures)\r\n- 5/6 hypotonia\r\n\r\nunc79 knockdown drosophila flies exhibited significantly higher rate of seizure-like behaviour than controls. unc79 haploinsufficiency shown to lead to significant reduction in protein levels of both unc79 and unc80 in mouse brains. Unc79 haploinsufficiency associated with deficiency in hippocampal-dependent learning and memory in mice.\r\n\r\nAuthors have reviewed their own evidence in relation to the gene-disease criteria detailed by Strande et al 2017 and note that their clinical and experimental data provides moderate-level evidence supporting the association between UNC79 and a neurodevelopment disorder including ASD.\r\n\r\nAmber association favoured due to clinical phenotypic range reported between affected individuals and their lack of specificity. \nSources: Literature",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:54:12.599884+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.491",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: U2AF2 as Amber List (moderate evidence)",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:54:12.585839+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.491",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: u2af2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:53:31.845016+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1853",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:53:23.004913+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.490",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: U2AF2 as Amber List (moderate evidence)",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:53:22.994127+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.490",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: u2af2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:53:05.495478+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1852",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder MONDO:0700092, MMGT1-related to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:52:58.670799+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.24",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.\r\nClinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.\r\nRegions of homozygosity found in these three probands.\r\nAppears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.\r\nThis is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). \r\n \r\nSources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.\r\nClinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.\r\nRegions of homozygosity found in these three probands.\r\nAppears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.\r\nThis is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). \r\n \r\nSources: Literature",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:52:51.555527+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.24",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.\r\nClinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.\r\nRegions of homozygosity found in these three probands.\r\nAppears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes ) ) homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.\r\nThis is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). \r\n \r\nSources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.\r\nClinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.\r\nRegions of homozygosity found in these three probands.\r\nAppears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.\r\nThis is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). \r\n \r\nSources: Literature",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:52:35.833169+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.490",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: U2AF2 as Amber List (moderate evidence)",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:52:35.807162+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.490",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: u2af2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:52:34.914388+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPR1 as ready",
"entity_name": "NPR1",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:52:34.900825+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npr1 has been classified as Red List (Low Evidence).",
"entity_name": "NPR1",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:52:33.788918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.906",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:52:22.675684+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.24",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.\r\nClinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.\r\nAppears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. Regions of homozygosity found in these three probands. \nSources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.\r\nClinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.\r\nRegions of homozygosity found in these three probands.\r\nAppears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes ) ) homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent.\r\nThis is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). \r\n \r\nSources: Literature",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:51:53.567574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.905",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: U2AF2 were set to 33057194",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:51:40.393762+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5239",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UNC79 was added\ngene: UNC79 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: UNC79 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UNC79 were set to PMID:37183800\nPhenotypes for gene: UNC79 were set to Complex neurodevelopmental disorder - MONDO:0100038\nReview for gene: UNC79 was set to AMBER\nAdded comment: PMID:37183800 Bayat et al 2023 report 6 unrelated patients with heterozygous NMD-predicted LoF variants in UNC79 - x1 canonical splice site variant, x5 nonsense/frameshift. 5 were confirmed de novo, 1 not identified in mother - father unavailable for testing. All variants absent in gnomAD and v2 pLI score for UNC79 is 1.\r\n\r\nPatients with UNC79 variants were identified through GeneMatcher or an international network of Epilepsy and Genetics departments. x1 patient underwent duo exome sequencing, remaining had trio exome sequencing - no other causative variants identified.\r\n\r\nPhenotypic features included:\r\n- 4/6 autistic features\r\n- 5/6 patients mild-moderate ID\r\n- 4/6 behavioural issues (aggression, stereotypies) \r\n- 4/6 epilepsy (focal to bilateral tonic-clonic seizures)\r\n- 5/6 hypotonia\r\n\r\nunc79 knockdown drosophila flies exhibited significantly higher rate of seizure-like behaviour than controls. unc79 haploinsufficiency shown to lead to significant reduction in protein levels of both unc79 and unc80 in mouse brains. Unc79 haploinsufficiency associated with deficiency in hippocampal-dependent learning and memory in mice.\r\n\r\nAuthors have reviewed their own evidence in relation to the gene-disease criteria detailed by Strande et al 2017 and note that their clinical and experimental data provides moderate-level evidence supporting the association between UNC79 and a neurodevelopment disorder including ASD.\r\n\r\nAmber association favoured due to clinical phenotypic range reported between affected individuals and their lack of specificity. \nSources: Literature",
"entity_name": "UNC79",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:51:40.176096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.905",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: U2AF2 as Green List (high evidence)",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:51:40.165146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.905",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: u2af2 has been classified as Green List (High Evidence).",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:51:31.030204+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1852",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: U2AF2 were set to 34112922",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:51:30.821258+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.287",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: U2AF2 as Red List (low evidence)",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:51:30.784333+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.287",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: u2af2 has been classified as Red List (Low Evidence).",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:51:28.602078+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.119",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: KIF26A was added\ngene: KIF26A was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF26A were set to 36564622\nPhenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156\nReview for gene: KIF26A was set to GREEN\ngene: KIF26A was marked as current diagnostic\nAdded comment: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia. \nSources: Literature",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:51:26.545472+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.489",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: U2AF2 as ready",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:51:26.534235+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.489",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: u2af2 has been removed from the panel.",
"entity_name": "U2AF2",
"entity_type": "gene"
}
]
}