PADI6

peptidyl arginine deiminase 6
OMIM: 610363, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PADI6 in Genomic imprinting


Version 0.149

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Preimplantation embryonic lethality 2 OMIM:617234
  • preimplantation embryonic lethality 2 MONDO:0014978
  • Beckwith-Wiedemann syndrome
  • Multi Locus Imprinting Disturbance
Green PADI6 in Segmental overgrowth disorders - Deep sequencing


Version 3.17
Latest signed off version: v3.3 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Preimplantation embryonic lethality 2 OMIM:617234
  • Beckwith-Wiedemann syndrome
Amber PADI6 in Growth failure in early childhood


Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • 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
Green PADI6 in Multi locus imprinting disorders


Level 2: Endocrinology
Version 1.6
Latest signed off version: v1.2 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Preimplantation embryonic lethality 2 OMIM:617234
  • preimplantation embryonic lethality 2 MONDO:0014978
  • Beckwith-Wiedemann syndrome
  • Multi Locus Imprinting Disturbance