| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Growth failure in early childhood v1.100 | NLRP7 | Ivone Leong Tag for-review was removed from gene: NLRP7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.100 | PADI6 | Ivone Leong commented on gene: PADI6: Submitted on behalf of NHS GMS "This gene does not go on the panel as linked to MLID and suggest separate panel for this. Genes NLRP5, NLRP7, PAD16, NLRP2 & KHDC3L" | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.100 | NLRP7 | Ivone Leong commented on gene: NLRP7: Submitted on behalf of NHS GMS "This gene does not go on the panel as linked to MLID and suggest separate panel for this. Genes NLRP5, NLRP7, PAD16, NLRP2 & KHDC3L" | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.100 | NLRP5 | Ivone Leong commented on gene: NLRP5: Submitted on behalf of NHS GMS "This gene does not go on the panel as linked to MLID and suggest separate panel for this. Genes NLRP5, NLRP7, PAD16, NLRP2 & KHDC3L" | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.100 | NLRP7 | Ivone Leong commented on gene: NLRP7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.61 | NLRP7 | Sarah Leigh Added comment: Comment on mode of inheritance: Review from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.61 | NLRP7 | Sarah Leigh 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.52 | NLRP7 | Sarah Leigh changed review comment from: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).; to: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP7 variants in Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.52 | NLRP7 | Sarah Leigh edited their review of gene: NLRP7: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.52 | NLRP7 | Sarah Leigh Phenotypes for gene: NLRP7 were changed from IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance to IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance; Hydatidiform mole, recurrent, 1 OMIM:231090; hydatidiform mole, recurrent, 1 MONDO:0009273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.51 | NLRP7 | Sarah Leigh Phenotypes for gene: NLRP7 were changed from IUGR; Short stature; fetal wastage to IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.50 | NLRP7 | Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.50 | NLRP7 | Sarah Leigh Mode of inheritance for gene: NLRP7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.41 | NLRP7 | Sarah Leigh Classified gene: NLRP7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.41 | NLRP7 | Sarah Leigh Added comment: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.41 | NLRP7 | Sarah Leigh Gene: nlrp7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.40 | NLRP7 | Sarah Leigh Publications for gene: NLRP7 were set to Eur J Hum Genet. 2017 Aug; 25(8):924-929. PMID: 28561018 doi: 10.1038/ejhg.2017.94. Epub 2017 May 31. Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring. Soellner L(1), Begemann M(1), Degenhardt F(2), Geipel A(3), Eggermann T(1), Mangold E(2). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.39 | NLRP7 | Sarah Leigh Tag for-review tag was added to gene: NLRP7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.34 | NLRP7 |
Karen Temple gene: NLRP7 was added gene: NLRP7 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NLRP7 were set to Eur J Hum Genet. 2017 Aug; 25(8):924-929. PMID: 28561018 doi: 10.1038/ejhg.2017.94. Epub 2017 May 31. Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring. Soellner L(1), Begemann M(1), Degenhardt F(2), Geipel A(3), Eggermann T(1), Mangold E(2). Phenotypes for gene: NLRP7 were set to IUGR; Short stature; fetal wastage Penetrance for gene: NLRP7 were set to unknown Review for gene: NLRP7 was set to GREEN Added comment: NOte that this gene is tested for in recurrent hydatidiform mole. But some pregnancies progress with growth disorders due to multilocus imprinting disturbance. This can missed on genome testing and so patients require methylation testing at imprinted loci to confirm The mutation in NLRP7 is in the mother of the proband. Sources: Expert list |
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