{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=606","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=604","results":[{"created":"2023-05-04T13:24:56.649719+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMEPA1 as ready","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:24:56.637840+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmepa1 has been classified as Amber List (Moderate Evidence).","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:24:51.066639+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMEPA1 as Amber List (moderate evidence)","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:24:51.056964+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmepa1 has been classified as Amber List (Moderate Evidence).","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:22:36.441729+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PMEPA1 was added\ngene: PMEPA1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: PMEPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PMEPA1 were set to 36928819\nPhenotypes for gene: PMEPA1 were set to Hereditary disorder of connective tissue, MONDO:0023603, PMEPA1-related\nMode of pathogenicity for gene: PMEPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PMEPA1 was set to AMBER\nAdded comment: PMID: 36928819; Greene, D. et al. (2023) Nat Med. 29(3):679-688.\r\nA paper by Genomics England Research Consortium. Genetic association analysis of 77,539 genomes .\r\n\r\nEight families with truncating variants affecting the same stretch of cytosines in this gene. \r\n\r\nIn the 100KGP discovery cohort, in three families with Familial thoracic aortic aneurysm disease (FTAAD) of European ancestry, the variant found was an insertion of a cytosine within a seven-cytosine stretch in the last exon, predicted to cause p.(S209Qfs*3). This variant was also identified independently in eight affected members of three pedigrees of Japanese ancestry in a separate Japanese patient group.\r\n(Note: the variant is present in gnomAD v2.1.1 in 22 heterozygotes as a filtered out variant.).\r\n\r\nAlso, this study found a deletion of one of those cytosines causing p.(S209Afs*61), in one individual or family. \r\nAlso, there was one family in Belgium in which the affected members carried a 5-bp deletion in the same stretch of polycytosines inducing a frameshift p.(P207Qfs*3). \r\n\r\nPhenotypic analysis of the individuals suggest that the phenotype of these FTAAD individuals and families is more like Loeys-Dietz syndrome. \nSources: Literature","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:20:57.206536+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.850","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PMEPA1 were changed from Familial thoracic aortic aneurysm disease (FTAAD); Loeys-Dietz syndrome to Hereditary disorder of connective tissue, MONDO:0023603, PMEPA1-related","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:20:33.783562+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.849","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PMEPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary disorder of connective tissue, MONDO:0023603, PMEPA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:17:38.121551+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NAF1 as ready","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:17:38.107905+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: naf1 has been classified as Green List (High Evidence).","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:17:03.781871+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NAF1 as Green List (high evidence)","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:17:03.777999+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Included because of the increased risk for progressive bone marrow failure associated with telomere biology disorders","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:17:03.757201+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: naf1 has been classified as Green List (High Evidence).","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:15:09.829786+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NAF1 as ready","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:15:09.811714+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: naf1 has been classified as Green List (High Evidence).","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:15:01.079616+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NAF1 as Green List (high evidence)","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:15:01.067737+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: naf1 has been classified as Green List (High Evidence).","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:12:59.652458+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NAF1 was added\ngene: NAF1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: NAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NAF1 were set to 27510903\nPhenotypes for gene: NAF1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148\nReview for gene: NAF1 was set to GREEN\nAdded comment: At least 3 probands/families with telomere-related pulmonary fibrosis and a supporting mouse model\r\nPMID: 27510903 - 5 individuals from 2 unrelated families with pulmonary fibrosis-emphysema and extrapulmonary manifestations including myelodysplastic syndrome and liver disease, with LoF variants. Truncated NAF1 was detected in cells derived from patients, and, in cells in which a frameshift mutation was introduced by genome editing telomerase RNA levels were reduced. Shortened telomere length also segregated with the variants. A Naf1+/- mouse model had reduced telomerase RNA levels\r\n\r\nClinVar - 1 nonsense and 2 splice site variants (ID: 2443185, 1338525, 2443184) called LP by the Genetic Services Laboratory, University of Chicago but no clinical details were provided\r\n- SCV002547372.1 - Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center - at least one individual with pulmonary fibrosis and leukocyte telomere length (by qPCR) less than 10th percentile age-adjusted \nSources: Literature","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:12:51.358833+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.33","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NAF1 was added\ngene: NAF1 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: NAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NAF1 were set to 27510903\nPhenotypes for gene: NAF1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148\nReview for gene: NAF1 was set to GREEN\nAdded comment: At least 3 probands/families with telomere-related pulmonary fibrosis and a supporting mouse model\r\nPMID: 27510903 - 5 individuals from 2 unrelated families with pulmonary fibrosis-emphysema and extrapulmonary manifestations including myelodysplastic syndrome and liver disease, with LoF variants. Truncated NAF1 was detected in cells derived from patients, and, in cells in which a frameshift mutation was introduced by genome editing telomerase RNA levels were reduced. Shortened telomere length also segregated with the variants. A Naf1+/- mouse model had reduced telomerase RNA levels\r\n\r\nClinVar - 1 nonsense and 2 splice site variants (ID: 2443185, 1338525, 2443184) called LP by the Genetic Services Laboratory, University of Chicago but no clinical details were provided\r\n- SCV002547372.1 - Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center - at least one individual with pulmonary fibrosis and leukocyte telomere length (by qPCR) less than 10th percentile age-adjusted \nSources: Literature","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:11:55.749282+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5225","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX2 as ready","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T13:11:55.740016+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5225","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx2 has been classified as Green List (High Evidence).","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T13:11:22.193126+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.849","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NAF1 as ready","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:11:22.179951+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.849","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: naf1 has been classified as Green List (High Evidence).","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:10:50.964473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.849","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NAF1 as Green List (high evidence)","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:10:50.932656+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.849","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: naf1 has been classified as Green List (High Evidence).","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:10:29.888939+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.848","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NAF1 was added\ngene: NAF1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NAF1 were set to 27510903\nPhenotypes for gene: NAF1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148\nReview for gene: NAF1 was set to GREEN\nAdded comment: At least 3 probands/families with telomere-related pulmonary fibrosis and a supporting mouse model\r\nPMID: 27510903 - 5 individuals from 2 unrelated families with pulmonary fibrosis-emphysema and extrapulmonary manifestations including myelodysplastic syndrome and liver disease, with LoF variants. Truncated NAF1 was detected in cells derived from patients, and, in cells in which a frameshift mutation was introduced by genome editing telomerase RNA levels were reduced. Shortened telomere length also segregated with the variants. A Naf1+/- mouse model had reduced telomerase RNA levels\r\n\r\nClinVar - 1 nonsense and 2 splice site variants (ID: 2443185, 1338525, 2443184) called LP by the Genetic Services Laboratory, University of Chicago but no clinical details were provided\r\n- SCV002547372.1 - Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center - at least one individual with pulmonary fibrosis and leukocyte telomere length (by qPCR) less than 10th percentile age-adjusted \nSources: Expert list","entity_name":"NAF1","entity_type":"gene"},{"created":"2023-05-04T13:07:05.406586+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.847","user_name":"Hazel Phillimore","item_type":"entity","text":"changed review comment from: PMID: 36928819; Greene, D. et al. (2023) Nat Med. 29(3):679-688.\r\nA paper by Genomics England Research Consortium. Genetic association analysis of 77,539 genomes .\r\n\r\nEight families with truncating variants affecting the same stretch of cytosines in this gene. \r\n\r\nIn the 100KGP discovery cohort, in three families with Familial thoracic aortic aneurysm disease (FTAAD) of European ancestry, the variant found was an insertion of a cytosine within a seven-cytosine stretch in the last exon, predicted to cause p.(S209Qfs*3). This variant was also identified independently in eight affected members of three pedigrees of Japanese ancestry in a separate Japanese patient group.\r\nAlso, this study found a deletion of one of those cytosines causing p.(S209Afs*61), in one individual or family.  \r\nAlso, there was one family in Belgium in which the affected members carried a 5-bp deletion in the same stretch of polycytosines inducing a frameshift p.(P207Qfs*3). \r\n\r\nPhenotypic analysis of the individuals suggest that the phenotype of these FTAAD individuals and families is more like Loeys-Dietz syndrome. \nSources: Literature; to: PMID: 36928819; Greene, D. et al. (2023) Nat Med. 29(3):679-688.\r\nA paper by Genomics England Research Consortium. Genetic association analysis of 77,539 genomes .\r\n\r\nEight families with truncating variants affecting the same stretch of cytosines in this gene. \r\n\r\nIn the 100KGP discovery cohort, in three families with Familial thoracic aortic aneurysm disease (FTAAD) of European ancestry, the variant found was an insertion of a cytosine within a seven-cytosine stretch in the last exon, predicted to cause p.(S209Qfs*3). This variant was also identified independently in eight affected members of three pedigrees of Japanese ancestry in a separate Japanese patient group.\r\n(Note: the variant is present in gnomAD v2.1.1 in 22 heterozygotes as a filtered out variant.).\r\n\r\nAlso, this study found a deletion of one of those cytosines causing p.(S209Afs*61), in one individual or family.  \r\nAlso, there was one family in Belgium in which the affected members carried a 5-bp deletion in the same stretch of polycytosines inducing a frameshift p.(P207Qfs*3). \r\n\r\nPhenotypic analysis of the individuals suggest that the phenotype of these FTAAD individuals and families is more like Loeys-Dietz syndrome. \r\nSources: Literature","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:06:17.945398+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5225","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LHX2 were set to PMID:","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T13:05:45.607603+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5224","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHX2 were changed from  to Neurodevelopmental disorder (MONDO: 0700092)","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T13:04:37.297746+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5223","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LHX2 as Green List (high evidence)","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T13:04:37.285172+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5223","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx2 has been classified as Green List (High Evidence).","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T13:02:15.647986+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.847","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PMEPA1 as ready","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:02:15.639495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.847","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pmepa1 has been classified as Amber List (Moderate Evidence).","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:02:03.050802+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.847","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PMEPA1 as Amber List (moderate evidence)","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:02:03.042567+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.847","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pmepa1 has been classified as Amber List (Moderate Evidence).","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T13:00:51.756251+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX2 as ready","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T13:00:51.737590+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx2 has been classified as Green List (High Evidence).","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T13:00:46.591726+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.204","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LHX2 as Green List (high evidence)","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T13:00:46.583888+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx2 has been classified as Green List (High Evidence).","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T12:59:59.467783+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.846","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX2 as ready","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T12:59:59.456473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.846","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx2 has been classified as Green List (High Evidence).","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T12:59:40.296759+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.846","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LHX2 as Green List (high evidence)","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T12:59:40.279749+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.846","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx2 has been classified as Green List (High Evidence).","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T12:58:09.595268+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.203","user_name":"Manny Jacobs","item_type":"entity","text":"gene: LHX2 was added\ngene: LHX2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LHX2 were set to PMID: 37057675\nPhenotypes for gene: LHX2 were set to Neurodevelopmental disorder (MONDO: 0700092)\nReview for gene: LHX2 was set to GREEN\nAdded comment: PMID: 37057675\r\n\r\nCase series of 19 individuals across 18 families.\r\n1 whole gene deletion, 7 missense, 10 predicted LoF variants. \r\nProposed loss-of-function mechanism. \r\nVariable phenotype, with variable intellectual disability and behavioural (ASD/ADHD) features common. \r\nMicrocephaly in 7 individuals. \r\n1 variant inherited from a mildly affected parent, all other variants with parental genotype available shown to be de novo. \nSources: Literature","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T12:58:08.047074+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5222","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CBX1 as ready","entity_name":"CBX1","entity_type":"gene"},{"created":"2023-05-04T12:58:08.038167+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5222","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbx1 has been classified as Green List (High Evidence).","entity_name":"CBX1","entity_type":"gene"},{"created":"2023-05-04T12:57:07.944907+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5222","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNOT9 as ready","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:57:07.930337+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5222","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot9 has been classified as Green List (High Evidence).","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:56:58.686924+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5222","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CNOT9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:56:23.534007+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5221","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CNOT9 as Green List (high evidence)","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:56:23.526115+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot9 has been classified as Green List (High Evidence).","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:55:50.424987+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5220","user_name":"Manny Jacobs","item_type":"entity","text":"reviewed gene: LHX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37057675; Phenotypes: Neurodevelopmental disorder (MONDO: 0700092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T12:55:43.643867+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1847","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNOT9 as ready","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:55:43.630500+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1847","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot9 has been classified as Green List (High Evidence).","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:55:26.423033+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1847","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CNOT9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:54:59.643812+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1846","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CNOT9 as Green List (high evidence)","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:54:59.628380+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1846","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot9 has been classified as Green List (High Evidence).","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:54:32.393114+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1846","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CNOT9 as Green List (high evidence)","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:54:32.372469+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1846","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot9 has been classified as Green List (High Evidence).","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:54:31.776556+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5220","user_name":"Karina Sandoval","item_type":"entity","text":"edited their review of gene: CNOT9: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:54:16.872357+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.16","user_name":"Suliman Khan","item_type":"entity","text":"changed review comment from: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients have optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356. \nSources: Literature; to: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients had optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356. \r\nSources: Literature","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2023-05-04T12:54:10.615451+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5220","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: CBX1 as Green List (high evidence)","entity_name":"CBX1","entity_type":"gene"},{"created":"2023-05-04T12:54:10.600861+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5220","user_name":"Seb Lunke","item_type":"entity","text":"Gene: cbx1 has been classified as Green List (High Evidence).","entity_name":"CBX1","entity_type":"gene"},{"created":"2023-05-04T12:53:39.063171+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5219","user_name":"Manny Jacobs","item_type":"entity","text":"gene: LHX2 was added\ngene: LHX2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LHX2 were set to PMID:","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T12:53:34.723894+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.16","user_name":"Suliman Khan","item_type":"entity","text":"gene: NDUFA12 was added\ngene: NDUFA12 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA12 were set to PMID: 35141356\nPhenotypes for gene: NDUFA12 were set to isolated optic atrophy; MONDO:0003608\nReview for gene: NDUFA12 was set to GREEN\nAdded comment: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients have optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356. \nSources: Literature","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2023-05-04T12:53:24.788664+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.845","user_name":"Karina Sandoval","item_type":"entity","text":"edited their review of gene: CNOT9: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:53:16.652442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.845","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNOT9 as ready","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:53:16.642977+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.845","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot9 has been classified as Green List (High Evidence).","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:53:12.757208+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1845","user_name":"Karina Sandoval","item_type":"entity","text":"edited their review of gene: CNOT9: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:53:07.634575+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.845","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: CBX1 as ready","entity_name":"CBX1","entity_type":"gene"},{"created":"2023-05-04T12:53:07.621230+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.845","user_name":"Seb Lunke","item_type":"entity","text":"Gene: cbx1 has been classified as Green List (High Evidence).","entity_name":"CBX1","entity_type":"gene"},{"created":"2023-05-04T12:53:05.841438+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.56","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: RARA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37086723; Phenotypes: Craniosynostosis - MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:53:01.323412+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.845","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CNOT9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:52:44.606188+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.844","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: CBX1 as Green List (high evidence)","entity_name":"CBX1","entity_type":"gene"},{"created":"2023-05-04T12:52:44.596206+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.844","user_name":"Seb Lunke","item_type":"entity","text":"Gene: cbx1 has been classified as Green List (High Evidence).","entity_name":"CBX1","entity_type":"gene"},{"created":"2023-05-04T12:52:23.907407+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.843","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CNOT9 as Green List (high evidence)","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:52:23.899600+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.843","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnot9 has been classified as Green List (High Evidence).","entity_name":"CNOT9","entity_type":"gene"},{"created":"2023-05-04T12:52:08.790825+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.56","user_name":"Krithika Murali","item_type":"entity","text":"Deleted their review","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:51:56.187336+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.842","user_name":"Manny Jacobs","item_type":"entity","text":"gene: LHX2 was added\ngene: LHX2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LHX2 were set to PMID: 37057675\nPhenotypes for gene: LHX2 were set to Neurodevelopmental disorder (MONDO: 0700092)\nReview for gene: LHX2 was set to GREEN\nAdded comment: PMID: 37057675\r\n\r\nCase series of 19 individuals across 18 families.\r\n1 whole gene deletion, 7 missense, 10 predicted LoF variants. \r\nProposed loss-of-function mechanism. \r\nVariable phenotype, with variable intellectual disability and behavioural (ASD/ADHD) features. \r\nMicrocephaly in 7 individuals. \r\n1 variant inherited from a mildly affected parent, all other variants with parental genotype available shown to be de novo. \nSources: Literature","entity_name":"LHX2","entity_type":"gene"},{"created":"2023-05-04T12:51:55.273562+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.56","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: RARA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RARA","entity_type":"gene"},{"created":"2023-05-04T12:51:46.961718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.842","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: DNAH7 as ready","entity_name":"DNAH7","entity_type":"gene"},{"created":"2023-05-04T12:51:46.938225+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.842","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dnah7 has been classified as Green List (High Evidence).","entity_name":"DNAH7","entity_type":"gene"},{"created":"2023-05-04T12:51:16.145552+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.842","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DNAH7 as Green List (high evidence)","entity_name":"DNAH7","entity_type":"gene"},{"created":"2023-05-04T12:51:16.133354+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.842","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dnah7 has been classified as Green List (High Evidence).","entity_name":"DNAH7","entity_type":"gene"},{"created":"2023-05-04T12:51:14.106526+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPR156 as ready","entity_name":"GPR156","entity_type":"gene"},{"created":"2023-05-04T12:51:14.086323+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpr156 has been classified as Green List (High Evidence).","entity_name":"GPR156","entity_type":"gene"},{"created":"2023-05-04T12:51:13.690165+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.842","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":"2023-05-04T12:51:06.670758+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.157","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GPR156 as Green List (high evidence)","entity_name":"GPR156","entity_type":"gene"},{"created":"2023-05-04T12:51:06.586617+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpr156 has been classified as Green List (High Evidence).","entity_name":"GPR156","entity_type":"gene"},{"created":"2023-05-04T12:51:05.932375+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.841","user_name":"Hazel Phillimore","item_type":"entity","text":"gene: PMEPA1 was added\ngene: PMEPA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PMEPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PMEPA1 were set to PMID: 36928819\nPhenotypes for gene: PMEPA1 were set to Familial thoracic aortic aneurysm disease (FTAAD); Loeys-Dietz syndrome\nMode of pathogenicity for gene: PMEPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PMEPA1 was set to AMBER\nAdded comment: PMID: 36928819; Greene, D. et al. (2023) Nat Med. 29(3):679-688.\r\nA paper by Genomics England Research Consortium. Genetic association analysis of 77,539 genomes .\r\n\r\nEight families with truncating variants affecting the same stretch of cytosines in this gene. \r\n\r\nIn the 100KGP discovery cohort, in three families with Familial thoracic aortic aneurysm disease (FTAAD) of European ancestry, the variant found was an insertion of a cytosine within a seven-cytosine stretch in the last exon, predicted to cause p.(S209Qfs*3). This variant was also identified independently in eight affected members of three pedigrees of Japanese ancestry in a separate Japanese patient group.\r\nAlso, this study found a deletion of one of those cytosines causing p.(S209Afs*61), in one individual or family.  \r\nAlso, there was one family in Belgium in which the affected members carried a 5-bp deletion in the same stretch of polycytosines inducing a frameshift p.(P207Qfs*3). \r\n\r\nPhenotypic analysis of the individuals suggest that the phenotype of these FTAAD individuals and families is more like Loeys-Dietz syndrome. \nSources: Literature","entity_name":"PMEPA1","entity_type":"gene"},{"created":"2023-05-04T12:50:50.034507+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.29","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: DNAH7 as ready","entity_name":"DNAH7","entity_type":"gene"},{"created":"2023-05-04T12:50:50.011288+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.29","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dnah7 has been classified as Green List (High Evidence).","entity_name":"DNAH7","entity_type":"gene"},{"created":"2023-05-04T12:50:31.630728+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":"Marked gene: INTS11 as ready","entity_name":"INTS11","entity_type":"gene"},{"created":"2023-05-04T12:50:31.622338+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":"2023-05-04T12:50:30.128414+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.29","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DNAH7 as Green List (high evidence)","entity_name":"DNAH7","entity_type":"gene"},{"created":"2023-05-04T12:50:30.106794+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.29","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dnah7 has been classified as Green List (High Evidence).","entity_name":"DNAH7","entity_type":"gene"},{"created":"2023-05-04T12:50:19.700264+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.841","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPR156 as ready","entity_name":"GPR156","entity_type":"gene"},{"created":"2023-05-04T12:50:19.689543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.841","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpr156 has been classified as Green List (High Evidence).","entity_name":"GPR156","entity_type":"gene"},{"created":"2023-05-04T12:50:04.585143+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.841","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GPR156 as Green List (high evidence)","entity_name":"GPR156","entity_type":"gene"},{"created":"2023-05-04T12:50:04.577096+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.841","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpr156 has been classified as Green List (High Evidence).","entity_name":"GPR156","entity_type":"gene"},{"created":"2023-05-04T12:50:03.034822+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1845","user_name":"Karina Sandoval","item_type":"entity","text":"gene: CNOT9 was added\ngene: CNOT9 was added to Genetic Epilepsy. 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"}]}