C3orf52

chromosome 3 open reading frame 52
OMIM: 611956, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber C3orf52 in Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotrichosis 15, OMIM:620177
Green C3orf52 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.25
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotrichosis 15, OMIM:620177