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| Imprinting disorders v0.10 | NLRP5 | Zornitza Stark Marked gene: NLRP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.10 | NLRP5 | Zornitza Stark Gene: nlrp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.10 | NLRP5 | Zornitza Stark Publications for gene: NLRP5 were set to 26323243; 31201414; 31829238 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.9 | NLRP5 | Zornitza Stark Mode of inheritance for gene: NLRP5 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.8 | NLRP5 |
Anna Le Fevre edited their review of gene: NLRP5: Added comment: Most reported individuals with recurrent early embryonic arrest or mothers of children with MLID have been found to carry biallelic pathogenic variants in this gene. A minority have only been found to carry a heterozygous variant only. A relationship between zygosity and severity of the condition has not been definitively established. As is the case for other genes encoding components of the subcortical maternal complex (SCMC), the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history. Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.; Changed phenotypes: Early embryonic arrest, Multi locus imprinting disturbance in offspring |
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| Imprinting disorders v0.3 | NLRP5 | Anna Le Fevre reviewed gene: NLRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26323243, 31829238, 29574422, 30877238, 32222962, 34440388; Phenotypes: Miscarriage, Beckwith-Wiedemann syndrome, Multi locus imprinting disturbance in offspring; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.0 | NLRP5 |
Zornitza Stark gene: NLRP5 was added gene: NLRP5 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NLRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP5 were set to 26323243; 31201414; 31829238 Phenotypes for gene: NLRP5 were set to Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all |
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