PADI6

peptidyl arginine deiminase 6
OMIM: 610363, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PADI6 in Segmental overgrowth disorders - Deep sequencing


Level 2: Dermatology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Preimplantation embryonic lethality 2 OMIM:617234
  • Beckwith-Wiedemann syndrome
Green PADI6 in Multi locus imprinting disorders


Level 2: Endocrinology
Version 1.18
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
Amber PADI6 in Monogenic short stature


Level 2: Endocrinology
Version 1.31
Latest signed off version: v1.0 (7 Aug 2024)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
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