NUDT6

1 panel

Panel	Reviews	Mode of inheritance	Details
Amber NUDT6 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert list Phenotypes recurrent fractures, accompanied with other skeletal manifestations including short-limb dwarfism, mild frontal bossing, bowing of legs and scoliosis.

Panel

Reviews

Mode of inheritance

Details

Level 2: Musculoskeletal
Version 5.5
Latest signed off version: v5.0 (30 Apr 2025)

review

BIALLELIC, autosomal or pseudoautosomal

recurrent fractures, accompanied with other skeletal manifestations including short-limb dwarfism, mild frontal bossing, bowing of legs and scoliosis.