DDRGK1

DDRGK domain containing 1
OMIM: 616177, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Green DDRGK1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557

Panel

Reviews

Mode of inheritance

Details

Green DDRGK1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Paediatric disorders

review

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Literature

Phenotypes

Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557