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| Genomic imprinting v0.97 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.97 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.77 | PADI6 | Sarah Leigh Phenotypes for gene: PADI6 were changed from Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance to Preimplantation embryonic lethality 2 OMIM:617234; preimplantation embryonic lethality 2 MONDO:0014978; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.76 | PADI6 | Sarah Leigh Phenotypes for gene: PADI6 were changed from Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome to Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.75 | PADI6 | 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.75 | PADI6 | Sarah Leigh Mode of inheritance for gene: PADI6 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 v0.74 | PADI6 | Sarah Leigh Classified gene: PADI6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.74 | PADI6 | Sarah Leigh Added comment: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of PADI6 variants in Multi Locus Imprinting Disturbances. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.74 | PADI6 | Sarah Leigh Gene: padi6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.25 | PADI6 |
Sarah Leigh gene: PADI6 was added gene: PADI6 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: PADI6 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: PADI6 were set to 32928291; 33221824; 27545678 Phenotypes for gene: PADI6 were set to Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome Review for gene: PADI6 was set to AMBER Added comment: PMID: 32928291 reports three variants associated with Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance in three cases. Five variants have also been associated with Preimplantation embryonic lethality 2, where they have been biallelic in the women affected (pmid 27545678). Sources: Literature |
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