Genomics England
GMS Panels
Panels
Genes and Entities

PADI6

peptidyl arginine deiminase 6
OMIM: 610363
PanelMode of inheritanceDetails
2 panels
Green
in Multi locus imprinting disorders
R-numbers: R417.2
Signed-off version 1.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Preimplantation embryonic lethality 2 OMIM:617234, preimplantation embryonic lethality 2 MONDO:0014978, Beckwith-Wiedemann syndrome, Multi Locus Imprinting Disturbance
Green
in Segmental overgrowth disorders - Deep sequencing
R-numbers: R110
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Preimplantation embryonic lethality 2 OMIM:617234, Beckwith-Wiedemann syndrome