FAM20B

FAM20B, glycosaminoglycan xylosylkinase
OMIM: 611063, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber FAM20B in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Desbuquois dysplasia MONDO:0015426

Amber FAM20B in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Desbuquois dysplasia MONDO:0015426

Amber FAM20B in Multiple joint dislocations and laxity

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • FAM20B GLYCOSAMINOGLYCAN XYLOSYLKINASE 611063