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Genomic imprinting v0.104 | NLRP2 | Sarah Leigh changed review comment from: Comment on list classification: Eamonn Maher has recommented a green rating for this gene on this panel. Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.; to: Comment on list classification: Eamonn Maher (Department of Medical Genetics, University of Cambridge) has recommented a green rating for this gene on this panel. Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.101 | NLRP2 | Sarah Leigh changed review comment from: Comment on list classification: Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.; to: Comment on list classification: Eamonn Maher has recommented a green rating for this gene on this panel. Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.101 | NLRP2 | Sarah Leigh changed review comment from: Comment on list classification: Maternal bialliec variants may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.; to: Comment on list classification: Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.101 | NLRP2 | Sarah Leigh changed review comment from: Comment on list classification: Bialliec variants in a mother may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.; to: Comment on list classification: Maternal bialliec variants may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.101 | NLRP2 | Sarah Leigh changed review comment from: Comment on mode of pathogenicity: NLRP2 variants result in epigenitic disturbance at sites in trans, eg IC2 in imprinting region at 11p15.5 (PMID 19300480).; to: Comment on mode of pathogenicity: Maternal NLRP2 variants result in epigenitic disturbance at sites in trans, eg: IC2 in imprinting region at 11p15.5 (PMID 19300480). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.101 | NLRP2 | Sarah Leigh Phenotypes for gene: NLRP2 were changed from Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome. Multi-locus imprinting disorder; Affected tissue: all to Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.100 | NLRP2 | Sarah Leigh Added comment: Comment on mode of pathogenicity: NLRP2 variants result in epigenitic disturbance at sites in trans, eg IC2 in imprinting region at 11p15.5 (PMID 19300480). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.100 | NLRP2 | Sarah Leigh Mode of pathogenicity for gene: NLRP2 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.99 | NLRP2 | Sarah Leigh Classified gene: NLRP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.99 | NLRP2 | Sarah Leigh Added comment: Comment on list classification: Bialliec variants in a mother may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.99 | NLRP2 | Sarah Leigh Gene: nlrp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.98 | NLRP2 |
Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. As a NLRP gene, NLRP2 has epigenetic control of imprinted regions that are part of Multi Locus Imprinting Disturbances. Review from imprinting expert: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing. Karen Temple (Wessex GMC), 29 Jan 2021; to: Not associated with relevant phenotype in OMIM or in Gen2Phen. As a NLRP gene, NLRP2 has epigenetic control of imprinted regions that are part of Multi Locus Imprinting Disturbances. Review from imprinting expert: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) that is caused by variants in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing. Karen Temple (Wessex GMC), 29 Jan 2021 |
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Genomic imprinting v0.98 | NLRP2 | Sarah Leigh Publications for gene: NLRP2 were set to 19300480; 30221575; 32169557; 28422141; 28317850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.84 | NLRP2 | Sarah Leigh commented on gene: NLRP2: Comments from Prof Ian Morison (Department of Pathology, University of Otago) NLRP2 is a component of the subcortical maternal complex. Required for the establishment of imprinting, but not imprinted itself. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.67 | NLRP2 | Sarah Leigh Tag watchlist tag was added to gene: NLRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.67 | NLRP2 |
Sarah Leigh changed review comment from: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing. Karen Temple (Wessex GMC), 29 Jan 2021; to: Not associated with relevant phenotype in OMIM or in Gen2Phen. As a NLRP gene, NLRP2 has epigenetic control of imprinted regions that are part of Multi Locus Imprinting Disturbances. Review from imprinting expert: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing. Karen Temple (Wessex GMC), 29 Jan 2021 |
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Genomic imprinting v0.67 | NLRP2 |
Sarah Leigh commented on gene: NLRP2: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing. Karen Temple (Wessex GMC), 29 Jan 2021 |
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Genomic imprinting v0.67 | NLRP2 | Sarah Leigh Added comment: Comment on mode of inheritance: The MOI based on review by Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.67 | NLRP2 | Sarah Leigh Mode of inheritance for gene: NLRP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.58 | NLRP2 | Sarah Leigh Publications for gene: NLRP2 were set to 19300480; 30221575; 32169557; 28422141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.45 | NLRP2 | Sarah Leigh Publications for gene: NLRP2 were set to 19300480; 30221575; 32169557 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting v0.44 | NLRP2 | Sarah Leigh Publications for gene: NLRP2 were set to PMID: 19300480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic imprinting | NLRP2 | Ellen McDonagh reviewed NLRP2 |