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| Imprinting disorders v0.16 | NLRP7 | Zornitza Stark Publications for gene: NLRP7 were set to 19246479; 28916717; 31201414; 16462743; 29574422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.13 | NLRP7 | Anna Le Fevre edited their review of gene: NLRP7: Added comment: There is one report of an individual with recurrent hydatiform mole and biallelic variants in this gene who experienced a single digynic triploid pregnancy presenting as a CHM, whereas other pregnancies were BiCHM (23125094).; Changed publications: 16462743, 28561018, 29574422, 19246479, 22315435, 19066229, 23722513, 23125094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.11 | NLRP7 | Zornitza Stark Marked gene: NLRP7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.11 | NLRP7 | Zornitza Stark Gene: nlrp7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.11 | NLRP7 | Zornitza Stark Mode of inheritance for gene: NLRP7 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 v0.10 | NLRP7 | Anna Le Fevre reviewed gene: NLRP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16462743, 28561018, 29574422, 19246479, 22315435, 19066229, 23722513; Phenotypes: Biparental complete hydatiform mole, Hydatiform mole, recurrent 1 MIM#231090, Multi locus imprinting disturbance in offspring, reproductive loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.0 | NLRP7 |
Zornitza Stark gene: NLRP7 was added gene: NLRP7 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP7 were set to 19246479; 28916717; 31201414; 16462743; 29574422 Phenotypes for gene: NLRP7 were set to Affected tissue: all (incompatible with life); hydatidiform mole, recurrent, 1 MONDO:0009273; Phenotype resulting from under expression: Biparental complete hydatidiform mole; Multi Locus Imprinting Disturbance |
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