{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=607","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=605","results":[{"created":"2023-05-04T12:48:28.193567+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.840","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPL39 as Green List (high evidence)","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:48:28.181394+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.840","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl39 has been classified as Green List (High Evidence).","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:48:25.946102+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RARA as ready","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:48:25.937587+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rara has been classified as Amber List (Moderate Evidence).","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:48:23.026705+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5219","user_name":"Karina Sandoval","item_type":"entity","text":"gene: CNOT9 was added\ngene: CNOT9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CNOT9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CNOT9 were set to PMID: 37092538\nPhenotypes for gene: CNOT9 were set to neurodevelopmental disorder, MONDO:0700092\nReview for gene: CNOT9 was set to GREEN\nAdded comment: 7 individuals with de novo variants. In silico predictions of functional relevance. All affected persons have DD/ID, with five of them showing seizures. Other symptoms include.\r\n\r\nSymptoms: Neuro dev disorder. ID, Epilepsy. All affected persons have DD/ID, with five of them showing seizures. Other symptoms include muscular hypotonia, facial dysmorphism, and behavioral abnormalities. \nSources: Literature","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:48:16.928518+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.839","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: CBX1 was added\ngene: CBX1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CBX1 were set to PMID: 37087635\nPhenotypes for gene: CBX1 were set to Neurodevelopmental disorder (MONDO#0700092), CBX1-related\nReview for gene: CBX1 was set to GREEN\nAdded comment: Three different de novo missense variants identified in three unrelated individuals with developmental delay, hypotonia, autistic features, and variable dysmorphic features such as broad forehead and head circumference above average. Mutant mice displayed increased latency-to-peak response, suggesting the possibility of synaptic delay or myelination deficits. Functional studies confirmed the reduction of mutant HP1β binding to heterochromatin. \nSources: Expert list","entity_name":"CBX1","entity_type":"gene"},{"created":"2023-05-04T12:48:07.766731+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RARA as Amber List (moderate evidence)","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:48:07.755284+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rara has been classified as Amber List (Moderate Evidence).","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:47:50.262555+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.839","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: MCAT as Amber List (moderate evidence)","entity_name":"MCAT","entity_type":"gene"},{"created":"2023-05-04T12:47:50.245110+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.839","user_name":"Seb Lunke","item_type":"entity","text":"Gene: mcat has been classified as Amber List (Moderate Evidence).","entity_name":"MCAT","entity_type":"gene"},{"created":"2023-05-04T12:47:08.954688+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.16","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: MCAT were changed from Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309 to Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309","entity_name":"MCAT","entity_type":"gene"},{"created":"2023-05-04T12:46:26.164454+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:46:10.589608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.838","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRSF1 as ready","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:46:10.579895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.838","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srsf1 has been classified as Green List (High Evidence).","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:46:07.954703+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5219","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: CBX1 was added\ngene: CBX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CBX1 were set to PMID: 37087635\nPhenotypes for gene: CBX1 were set to Neurodevelopmental disorder (MONDO#0700092), CBX1-related\nReview for gene: CBX1 was set to GREEN\nAdded comment: Three different de novo missense variants identified in three unrelated individuals with developmental delay, hypotonia, autistic features, and variable dysmorphic features such as broad forehead and head circumference above average. Mutant mice displayed increased latency-to-peak response, suggesting the possibility of synaptic delay or myelination deficits. Functional studies confirmed the reduction of mutant HP1β binding to heterochromatin. \nSources: Expert list","entity_name":"CBX1","entity_type":"gene"},{"created":"2023-05-04T12:46:07.441297+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.838","user_name":"Karina Sandoval","item_type":"entity","text":"gene: CNOT9 was added\ngene: CNOT9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CNOT9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CNOT9 were set to PMID: 37092538\nPhenotypes for gene: CNOT9 were set to neurodevelopmental disorder, MONDO:0700092\nReview for gene: CNOT9 was set to GREEN\nAdded comment: 7 individuals with de novo variants. In silico predictions of functional relevance. All affected persons have DD/ID, with five of them showing seizures. Other symptoms include.\r\n\r\nSymptoms: Neuro dev disorder. ID, Epilepsy. All affected persons have DD/ID, with five of them showing seizures. Other symptoms include muscular hypotonia, facial dysmorphism, and behavioral abnormalities. \nSources: Literature","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:45:49.870827+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:45:39.995975+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPL39 as ready","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:45:39.983638+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl39 has been classified as Green List (High Evidence).","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:45:30.370711+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.15","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: MCAT were changed from progressive autosomal recessive optic neuropathy to Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309","entity_name":"MCAT","entity_type":"gene"},{"created":"2023-05-04T12:45:18.536478+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPL39 were changed from Leigh Syndrome MONDO:0009723 to Mitochondrial disease MONDO:0044970","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:44:44.193655+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.838","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRSF1 as Green List (high evidence)","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:44:44.164679+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.838","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srsf1 has been classified as Green List (High Evidence).","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:43:54.784285+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.55","user_name":"Krithika Murali","item_type":"entity","text":"Deleted their review","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:43:47.673039+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPL39 as Green List (high evidence)","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:43:47.661062+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5219","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: INTS11 as Green List (high evidence)","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:43:47.646812+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl39 has been classified as Green List (High Evidence).","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:43:47.642585+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5219","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ints11 has been classified as Green List (High Evidence).","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:43:02.121958+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.14","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: MCAT as Amber List (moderate evidence)","entity_name":"MCAT","entity_type":"gene"},{"created":"2023-05-04T12:43:02.056437+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.14","user_name":"Seb Lunke","item_type":"entity","text":"Gene: mcat has been classified as Amber List (Moderate Evidence).","entity_name":"MCAT","entity_type":"gene"},{"created":"2023-05-04T12:43:01.006749+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1845","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: POLR1A as Amber List (moderate evidence)","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:43:00.992572+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1845","user_name":"Elena Savva","item_type":"entity","text":"Gene: polr1a has been classified as Amber List (Moderate Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:42:45.487189+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5218","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRSF1 as Green List (high evidence)","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:42:45.470747+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srsf1 has been classified as Green List (High Evidence).","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:42:34.592557+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPL39 as Green List (high evidence)","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:42:34.579610+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl39 has been classified as Green List (High Evidence).","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:41:50.012492+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1845","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: POLR1A as Amber List (moderate evidence)","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:41:49.976923+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5218","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: INTS11 as Green List (high evidence)","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:41:49.976892+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1845","user_name":"Elena Savva","item_type":"entity","text":"Gene: polr1a has been classified as Amber List (Moderate Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:41:49.951338+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5218","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ints11 has been classified as Green List (High Evidence).","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:41:45.401159+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5218","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRSF1 as ready","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:41:45.391482+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srsf1 has been classified as Green List (High Evidence).","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:41:38.488225+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.13","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: MCAT were set to 31915829","entity_name":"MCAT","entity_type":"gene"},{"created":"2023-05-04T12:41:37.662785+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPL39 as Green List (high evidence)","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:41:37.590295+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl39 has been classified as Green List (High Evidence).","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:40:42.491311+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.837","user_name":"Chern Lim","item_type":"entity","text":"gene: DNAH7 was added\ngene: DNAH7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNAH7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH7 were set to 34476482; 35543642\nPhenotypes for gene: DNAH7 were set to non-syndromic male infertility due to sperm motility disorder (MONDO#0017173), DNAH7-related\nReview for gene: DNAH7 was set to GREEN\ngene: DNAH7 was marked as current diagnostic\nAdded comment: PMID: 34476482 (Wei et al 2021):\r\n-\tHom/chet missense DNAH7 variants in three unrelated infertile patients with idiopathic asthenozoospermia, presented with primary ciliary dyskinesia (PCD)-associated symptoms.\r\n-\tFunctional studies showed expression of DNAH7 in the spermatozoa from the DNAH7-defective patients was significantly decreased.\r\n\r\nPMID: 35543642 (Gao et al 2022):\r\n-\tOne proband with idiopathic asthenozoospermia, presented a history of PCD-like symptoms. Hom frameshift variant predicted to cause NMD, both parents are heterozygous.\r\n-\tImmunofluorescent staining showed DNAH7 signal significantly decreased or was even completely absent in the sperm from the investigated patient. \nSources: Literature","entity_name":"DNAH7","entity_type":"gene"},{"created":"2023-05-04T12:40:03.771698+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1845","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: POLR1A as Amber List (moderate evidence)","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:40:03.765227+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5218","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRSF1 as Green List (high evidence)","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:40:03.686510+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1845","user_name":"Elena Savva","item_type":"entity","text":"Gene: polr1a has been classified as Amber List (Moderate Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:40:03.685382+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srsf1 has been classified as Green List (High Evidence).","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:39:23.772946+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.864","user_name":"Lilian Downie","item_type":"entity","text":"edited their review of gene: MRPL39: Changed phenotypes: Mitochondrial disease MONDO:0044970","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:39:23.315659+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.156","user_name":"Anna Ritchie","item_type":"entity","text":"gene: GPR156 was added\ngene: GPR156 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: GPR156 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPR156 were set to PMID: 36928819\nPhenotypes for gene: GPR156 were set to Sensorineural hearing loss, MONDO:60700002, GPR156-related\nReview for gene: GPR156 was set to GREEN\nAdded comment: Eight affected individuals from three unrelated families all had congenital nonsyndromic bilateral sensorineural hearing loss. Homozygous and compound heterozygous loss of function variants were reported in these families. \nSources: Literature","entity_name":"GPR156","entity_type":"gene"},{"created":"2023-05-04T12:38:44.795310+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.28","user_name":"Chern Lim","item_type":"entity","text":"gene: DNAH7 was added\ngene: DNAH7 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: DNAH7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH7 were set to 34476482; 35543642\nPhenotypes for gene: DNAH7 were set to non-syndromic male infertility due to sperm motility disorder (MONDO#0017173), DNAH7-related\nReview for gene: DNAH7 was set to GREEN\ngene: DNAH7 was marked as current diagnostic\nAdded comment: PMID: 34476482 (Wei et al 2021):\r\n-\tHom/chet missense DNAH7 variants in three unrelated infertile patients with idiopathic asthenozoospermia, presented with primary ciliary dyskinesia (PCD)-associated symptoms.\r\n-\tFunctional studies showed expression of DNAH7 in the spermatozoa from the DNAH7-defective patients was significantly decreased.\r\n\r\nPMID: 35543642 (Gao et al 2022):\r\n-\tOne proband with idiopathic asthenozoospermia, presented a history of PCD-like symptoms. Hom frameshift variant predicted to cause NMD, both parents are heterozygous.\r\n-\tImmunofluorescent staining showed DNAH7 signal significantly decreased or was even completely absent in the sperm from the investigated patient. \nSources: Literature","entity_name":"DNAH7","entity_type":"gene"},{"created":"2023-05-04T12:38:35.360167+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.837","user_name":"Lilian Downie","item_type":"entity","text":"edited their review of gene: MRPL39: Changed rating: GREEN; Changed phenotypes: Mitochondrial disease MONDO:0044970","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:38:29.928054+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1845","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: POLR1A as Amber List (moderate evidence)","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:38:29.918308+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1845","user_name":"Elena Savva","item_type":"entity","text":"Gene: polr1a has been classified as Amber List (Moderate Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:38:07.100476+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.837","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: INTS11 as ready","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:38:07.087884+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.837","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ints11 has been classified as Green List (High Evidence).","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:37:52.685467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.837","user_name":"Lilian Downie","item_type":"entity","text":"changed review comment from: AR \r\n3 unrelated individuals, confirmed variants in trans\r\nFunctional studies on patient fibroblasts\r\nMultisystem disease, variable onset \r\n2x infants with a clinical diagnosis of Leigh syndrome (congestive cardiac\r\nfailure, increased lactates, seizures, apnea, poor feeding, and global developmental delay, leading\r\nto early death (< 1 year of age))\r\nAdult with hypertrophic cardiomyopathy, lactic acidosis, ADHD \r\nSources: Literature; to: AR \r\n3 unrelated individuals, confirmed variants in trans\r\nFunctional studies on patient fibroblasts\r\nMultisystem disease, variable onset \r\n2x infants with a clinical diagnosis of Leigh syndrome (congestive cardiac\r\nfailure, increased lactates, seizures, apnea, poor feeding, and global developmental delay, leading\r\nto early death (< 1 year of age))\r\nAdult with hypertrophic cardiomyopathy, lactic acidosis, ADHD \r\nSources: Literature","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:37:18.197917+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1844","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: POLR1A as ready","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:37:18.186439+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1844","user_name":"Elena Savva","item_type":"entity","text":"Gene: polr1a has been classified as Red List (Low Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:37:04.348670+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5217","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: POLR1A as Green List (high evidence)","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:37:04.310067+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5217","user_name":"Elena Savva","item_type":"entity","text":"Gene: polr1a has been classified as Green List (High Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:37:01.467743+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.837","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: INTS11 were changed from  to intellectual disability, MONDO:0001071","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:36:49.992677+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.836","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: PMID: 37054711 - 15 individuals from 10 unrelated families with bi-allelic variants in INTS11  with global developmental and language delay, intellectual disability, impaired motor development, and brain atrophy.; to: PMID: 37054711 - 15 individuals from 10 unrelated families with bi-allelic variants in INTS11  with global developmental and language delay, intellectual disability, impaired motor development, and brain atrophy.\r\n\r\nFunctional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages.","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:36:35.514756+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.836","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SRSF1 was added\ngene: SRSF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SRSF1 were set to 37071997\nPhenotypes for gene: SRSF1 were set to Neurodevelopmental disorder, SRSF1-related MONDO:0700092\nReview for gene: SRSF1 was set to GREEN\ngene: SRSF1 was marked as current diagnostic\nAdded comment: 17 individuals from 16 families reported with mostly de novo variants. Variants were a mixture of missense, nonsense/frameshift (both NMD-predicted and not NMD-predicted) and microdeletions. In one family, only one parent was available for testing. In another family, 2 affected siblings had the variant but the variant was not identified in either parent suggesting germline mosaicism.\r\n\r\nFunctional testing of a subset of variants in Drosophila supported pathogenicity in most, but 2 missense variants showed no functional effect and were classified VUS. Episignature analysis (EpiSign) on patient DNA from blood showed a specific DNA methylation signature in patients with the variants classified pathogenic but not those classified VUS.\r\n\r\nPhenotypes included mainly neurological abnormalities (mild to moderate ID/dev delay, motor delay, speech delay, and behavioural disorders) and facial dysmorphisms.\r\n\r\nOther features included hypotonia (11/16), variable brain abnormalities on MRI (6/12), variable cardiac malformations (6/14). urogenital malformations e.g. hypospadias, cryptorchidism (6/13), scoliosis (5/17) and/or variable other skeletal abnormalities (10/17). \nSources: Literature","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:36:26.416911+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.836","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: INTS11 as Green List (high evidence)","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:36:26.406739+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.836","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ints11 has been classified as Green List (High Evidence).","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:36:25.681117+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.281","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: POLR1A as Green List (high evidence)","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:36:25.667898+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.281","user_name":"Elena Savva","item_type":"entity","text":"Gene: polr1a has been classified as Green List (High Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:36:18.579170+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1844","user_name":"Elena Savva","item_type":"entity","text":"gene: POLR1A was added\ngene: POLR1A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: POLR1A were set to PMID: 37075751\nPhenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type MIM#616462\nReview for gene: POLR1A was set to AMBER\nAdded comment: PMID: 37075751 - reports individuals with epilepsy but an infrequent occurrence, found in 1/4 of the cohort \nSources: Literature","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:36:17.034601+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5216","user_name":"Melanie Marty","item_type":"entity","text":"gene: INTS11 was added\ngene: INTS11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS11 were set to PMID: 37054711\nPhenotypes for gene: INTS11 were set to Global developmental delay; launguage delay; intellectual disability; impaired motor development; brain atrophy\nReview for gene: INTS11 was set to GREEN\nAdded comment: PMID: 37054711 - 15 individuals from 10 unrelated families with bi-allelic variants in INTS11 with global developmental and language delay, intellectual disability, impaired motor development, and brain atrophy.\r\n\r\nFunctional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages. \nSources: Literature","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:36:07.755023+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.55","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of trio exome sequencing data.\r\n\r\nThe authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure.\r\n\r\nThe variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain.\r\n\r\nBoth affected individuals had severe craniosynostosis (sagittal or bicoronal).  \r\n\r\nOther shared phenotypic features included:\r\n- limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs)\r\n- other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia)\r\n- renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency \r\nSources: Literature; to: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of trio exome sequencing data.\r\n\r\nThe authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure.\r\n\r\nThe variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain.\r\n\r\nBoth affected individuals had severe craniosynostosis (sagittal or bicoronal).  \r\n\r\nOther shared phenotypic features included:\r\n- limb anomalies (rocker-bottom feet, bowing of the legs, and short upper and lower limbs)\r\n- other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia)\r\n- renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency \r\nSources: Literature","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:35:54.921319+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5216","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: SRSF1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:35:48.460427+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.55","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of exome sequencing data.\r\n\r\nThe authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure.\r\n\r\nThe variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain.\r\n\r\nBoth affected individuals had severe craniosynostosis (sagittal or bicoronal).  \r\n\r\nOther shared phenotypic features included:\r\n- limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs)\r\n- other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia)\r\n- renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency \nSources: Literature; to: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of trio exome sequencing data.\r\n\r\nThe authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure.\r\n\r\nThe variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain.\r\n\r\nBoth affected individuals had severe craniosynostosis (sagittal or bicoronal).  \r\n\r\nOther shared phenotypic features included:\r\n- limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs)\r\n- other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia)\r\n- renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency \r\nSources: Literature","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:35:04.605495+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5216","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: POLR1A as ready","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:35:04.594704+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5216","user_name":"Elena Savva","item_type":"entity","text":"Gene: polr1a has been classified as Red List (Low Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:35:03.911413+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.55","user_name":"Krithika Murali","item_type":"entity","text":"gene: RARA was added\ngene: RARA was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RARA were set to PMID: 37086723\nPhenotypes for gene: RARA were set to Craniosynostosis - MONDO:0015469\nReview for gene: RARA was set to AMBER\nAdded comment: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of exome sequencing data.\r\n\r\nThe authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure.\r\n\r\nThe variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain.\r\n\r\nBoth affected individuals had severe craniosynostosis (sagittal or bicoronal).  \r\n\r\nOther shared phenotypic features included:\r\n- limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs)\r\n- other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia)\r\n- renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency \nSources: Literature","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:34:35.969620+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.864","user_name":"Lilian Downie","item_type":"entity","text":"gene: MRPL39 was added\ngene: MRPL39 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPL39 were set to PMID: 37133451\nPhenotypes for gene: MRPL39 were set to Leigh Syndrome MONDO:0009723\nReview for gene: MRPL39 was set to GREEN\nAdded comment: 3 unrelated individuals, confirmed variants in trans\r\nFunctional studies on patient fibroblasts\r\nMultisystem disease, variable onset\r\n2x infants with a clinical diagnosis of Leigh syndrome (congestive cardiac\r\nfailure, increased lactates, seizures, apnea, poor feeding, and global developmental delay, leading\r\nto early death (< 1 year of age))\r\nAdult with hypertrophic cardiomyopathy, lactic acidosis, ADHD \nSources: Literature","entity_name":"MRPL39","entity_type":"gene"},{"created":"2023-05-04T12:34:34.679438+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5216","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SRSF1 was added\ngene: SRSF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRSF1 were set to 37071997\nPhenotypes for gene: SRSF1 were set to Neurodevelopmental disorder, SRSF1-related MONDO:0700092\nReview for gene: SRSF1 was set to GREEN\ngene: SRSF1 was marked as current diagnostic\nAdded comment: 17 individuals from 16 families reported with mostly de novo variants. Variants were a mixture of missense, nonsense/frameshift (both NMD-predicted and not NMD-predicted) and microdeletions. In one family, only one parent was available for testing. In another family, 2 affected siblings had the variant but the variant was not identified in either parent suggesting germline mosaicism.\r\n\r\nFunctional testing of a subset of variants in Drosophila supported pathogenicity in most, but 2 missense variants showed no functional effect and were classified VUS. Episignature analysis (EpiSign) on patient DNA from blood showed a specific DNA methylation signature in patients with the variants classified pathogenic but not those classified VUS.\r\n\r\nPhenotypes included mainly neurological abnormalities (mild to moderate ID/dev delay, motor delay, speech delay, and behavioural disorders) and facial dysmorphisms.\r\n\r\nOther features included hypotonia (11/16), variable brain abnormalities on MRI (6/12), variable cardiac malformations (6/14). urogenital malformations e.g. hypospadias, cryptorchidism (6/13), scoliosis (5/17) and/or variable other skeletal abnormalities (10/17). \nSources: Literature","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-05-04T12:34:28.310276+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.280","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: POLR1A as ready","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:34:28.294362+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.280","user_name":"Elena Savva","item_type":"entity","text":"Gene: polr1a has been classified as Red List (Low Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:34:10.247075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.835","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC30A9 as ready","entity_name":"SLC30A9","entity_type":"gene"},{"created":"2023-05-04T12:34:10.218934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.835","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc30a9 has been classified as Green List (High Evidence).","entity_name":"SLC30A9","entity_type":"gene"},{"created":"2023-05-04T12:34:03.828451+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.5","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: DNA2 as ready","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-05-04T12:34:03.809880+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.5","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dna2 has been classified as Amber List (Moderate Evidence).","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-05-04T12:34:00.808922+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.5","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DNA2 as Amber List (moderate evidence)","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-05-04T12:34:00.800935+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.5","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dna2 has been classified as Amber List (Moderate Evidence).","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-05-04T12:33:58.865045+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.354","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DNA2 as Amber List (moderate evidence)","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-05-04T12:33:58.825644+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.354","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dna2 has been classified as Amber List (Moderate Evidence).","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-05-04T12:33:47.385859+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.835","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC30A9 as Green List (high evidence)","entity_name":"SLC30A9","entity_type":"gene"},{"created":"2023-05-04T12:33:47.371889+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.835","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc30a9 has been classified as Green List (High Evidence).","entity_name":"SLC30A9","entity_type":"gene"},{"created":"2023-05-04T12:33:31.847915+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.353","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: DNA2 as ready","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-05-04T12:33:31.781809+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.353","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dna2 has been classified as Red List (Low Evidence).","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-05-04T12:33:25.718772+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.4","user_name":"Seb Lunke","item_type":"entity","text":"gene: DNA2 was added\ngene: DNA2 was added to Photosensitivity Syndromes. Sources: Literature\ndeep intronic, founder tags were added to gene: DNA2.\nMode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNA2 were set to 37133451\nPhenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated\nReview for gene: DNA2 was set to AMBER\nAdded comment: A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation. \nSources: Literature","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-05-04T12:33:03.860913+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC30A9 as ready","entity_name":"SLC30A9","entity_type":"gene"},{"created":"2023-05-04T12:33:03.822193+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc30a9 has been classified as Green List (High Evidence).","entity_name":"SLC30A9","entity_type":"gene"},{"created":"2023-05-04T12:32:39.691409+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.834","user_name":"Lucy Spencer","item_type":"entity","text":"gene: SLC30A9 was added\ngene: SLC30A9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC30A9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A9 were set to 37041080\nPhenotypes for gene: SLC30A9 were set to Birk-Landau-Perez syndrome\t(MIM#617595)\nReview for gene: SLC30A9 was set to GREEN\nAdded comment: PMID:37041080 - 2 families previously reported and this paper describes 4 more with biallelic SLC30A9 variants. Original 2 families: 6 affected members all hom for Ala350del, and 1 affected member chet for 2 frameshifts. 4 families from this paper: 2 families have the same homozygous missense (Gly418Val), family 3 has 4 affected sibs hom for Ala350del, family 4 1 affected chet for a frameshift and a synonymous. So 2 fams homs for Ala350del and 2 fams hom for Gly418Val.\r\nAll have Brik-Landau-Perez syndrome: all with ID, movement disorder and dystonia, and many with oculomotor apraxia, renal abnormalitie, ptosis, some had hearing impairment. \nSources: Literature","entity_name":"SLC30A9","entity_type":"gene"},{"created":"2023-05-04T12:32:08.892735+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5216","user_name":"Elena Savva","item_type":"entity","text":"gene: POLR1A was added\ngene: POLR1A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: POLR1A were set to PMID: 37075751\nPhenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type MIM#616462\nReview for gene: POLR1A was set to GREEN\nAdded comment: PMID: 37075751 - >10 patients with developmental delay \nSources: Literature","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-05-04T12:32:04.759376+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC30A9 as Green List (high evidence)","entity_name":"SLC30A9","entity_type":"gene"}]}