SLC4A2

solute carrier family 4 member 2
OMIM: 109280, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SLC4A2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Osteopetrosis, autosomal recessive 9, MIM# 620366

Amber SLC4A2 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Osteopetrosis, autosomal recessive 9, MIM# 620366