Multi locus imprinting disorders
Gene: PADI6
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 disorderCreated: 21 Apr 2021, 2:42 p.m. | Last Modified: 21 Apr 2021, 2:42 p.m.
Panel Version: 0.97
Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).Created: 2 Feb 2021, 3:03 p.m. | Last Modified: 2 Feb 2021, 3:03 p.m.
Panel Version: 0.75
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.Created: 2 Feb 2021, 3:01 p.m. | Last Modified: 2 Feb 2021, 3:01 p.m.
Panel Version: 0.74
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: LiteratureCreated: 22 Dec 2020, 4:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome
Publications
gene: PADI6 was added gene: PADI6 was added to Multi locus imprinting disorders. Sources: Literature,Expert Review Green 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 32928291; 33221824; 27545678 Phenotypes for gene: PADI6 were set to Preimplantation embryonic lethality 2 OMIM:617234; preimplantation embryonic lethality 2 MONDO:0014978; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance