DSG4

desmoglein 4
OMIM: 607892, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green DSG4 in Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • localized autosomal recessive hypotrichosis-1 (LAH1)
  • Autosomal recessive hypotrichosis
  • Hypotrichosis 6, 607903
  • HYPT6
  • Localized AR Hypotrichosis
  • localized autosomal recessive hypotrichosis
  • Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent)
Tags
  • deletions

Green DSG4 in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • HYPT6
  • localized autosomal recessive hypotrichosis-1 (LAH1)
  • Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent)
  • Autosomal recessive hypotrichosis
  • Hereditary hypotrichosis simplex (HHS)
  • Localized AR Hypotrichosis
  • localized autosomal recessive hypotrichosis
  • Hypotrichosis 6, 607903
  • Hypotrichosis simplex (HS)

Green DSG4 in Palmoplantar keratodermas


Version 1.9
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders