NUDT6:Ensemblv90

nudix hydrolase 6
OMIM: 606261, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red NUDT6 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert List
  • Expert List
Phenotypes
  • Osteogenesis imperfecta, MONDO:0019019, NUDT6-related

Red NUDT6 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 1.16

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert List
Phenotypes
  • Osteogenesis imperfecta, MONDO:0019019, NUDT6-related

Red NUDT6 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Red
Phenotypes
  • Osteogenesis imperfecta, MONDO:0019019, NUDT6-related