Limb disorders
Gene: NOG
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:49 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 10:25 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type B2 611377; Multiple synostoses syndrome 1 186500; Stapes ankylosis with broad thumb and toes 184460; Symphalangism, proximal, 1A 185800; Tarsal-carpal coalition syndrome 186570
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 2
Expert Review Green was added to NOG. Panel: Limb disorders UKGTN was added to NOG. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to NOG. Panel: Limb disorders Expert list was added to NOG. Panel: Limb disorders Emory Genetics Laboratory was added to NOG. Panel: Limb disorders Model of inheritance for gene NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to NOG. Panel: Limb disorders
NOG was added to Limb disorders panel. Sources: Viapath
NOG was created by Ellen McDonagh