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| Growth failure in early childhood v1.100 | PADI6 | Ivone Leong Tag for-review was removed from gene: PADI6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PADI6 | Ivone Leong commented on gene: PADI6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.60 | PADI6 | 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 v1.60 | PADI6 | Sarah Leigh Mode of inheritance for gene: PADI6 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 v1.53 | PADI6 | Sarah Leigh Phenotypes for gene: PADI6 were changed from Short stature; IUGR; miscarriages in the family; beckwith weidemann syndrome in the family to Short stature; IUGR; miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; preimplantation embryonic lethality 2 MONDO:0014978; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.43 | PADI6 | Sarah Leigh Tag for-review tag was added to gene: PADI6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.43 | PADI6 | Sarah Leigh Classified gene: PADI6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.43 | PADI6 | Sarah Leigh Gene: padi6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.42 | PADI6 | Sarah Leigh reviewed gene: PADI6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.42 | PADI6 | Sarah Leigh Publications for gene: PADI6 were set to 32928291; 29574422; 33221824 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.42 | PADI6 | Sarah Leigh Publications for gene: PADI6 were set to Eur J Hum Genet. 2020 Nov 21. doi: 10.1038/s41431-020-00762-0. Online ahead of print. Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family. Eggermann T(1), Kadgien G(2), Begemann M(3), Elbracht M(3). Clin Epigenetics. 2020 Sep 14; 12(1):139. doi: 10.1186/s13148-020-00925-2. Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance. Maria Vittoria Cubellis 1, Laura Pignata 2, Ankit Verma 2 3, Angela Sparago 2, Rosita Del Prete 2, Maria Monticelli 1, Luciano Calzari 4, Vincenzo Antona 5, Daniela Melis 6, Romano Tenconi 7, Silvia Russo 4, Flavia Cerrato 8, Andrea Riccio 9 10 PMID: 32928291 PMCID: PMC7489023 DOI: 10.1186/s13148-020-00925-2. Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190; PMC6047157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.34 | PADI6 |
Karen Temple gene: PADI6 was added gene: PADI6 was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: PADI6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PADI6 were set to Eur J Hum Genet. 2020 Nov 21. doi: 10.1038/s41431-020-00762-0. Online ahead of print. Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family. Eggermann T(1), Kadgien G(2), Begemann M(3), Elbracht M(3). Clin Epigenetics. 2020 Sep 14; 12(1):139. doi: 10.1186/s13148-020-00925-2. Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance. Maria Vittoria Cubellis 1, Laura Pignata 2, Ankit Verma 2 3, Angela Sparago 2, Rosita Del Prete 2, Maria Monticelli 1, Luciano Calzari 4, Vincenzo Antona 5, Daniela Melis 6, Romano Tenconi 7, Silvia Russo 4, Flavia Cerrato 8, Andrea Riccio 9 10 PMID: 32928291 PMCID: PMC7489023 DOI: 10.1186/s13148-020-00925-2. Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190; PMC6047157 Phenotypes for gene: PADI6 were set to Short stature; IUGR; miscarriages in the family; beckwith weidemann syndrome in the family Penetrance for gene: PADI6 were set to unknown Review for gene: PADI6 was set to GREEN Added comment: PADi6 - there is good evidence that maternal mutations predispose to multi locus imprinting disturbance which can cause IUGR in the spectrum of SRS OR overgrowth in the spectrum of BWS. Mutations in the mother would lead to further investigation of methylation aberrations in the affected offspring/ products of conception. Sources: Expert Review |
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