Skeletal dysplasia
Gene: NOG
Defects in joint formation and synostoses gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 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
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NOG; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
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
Added phenotypes Symphalangism, proximal, 1A 185800; Brachydactyly, type B2 611377; Tarsal-carpal coalition syndrome 186570; Stapes ankylosis with broad thumb and toes 184460; Multiple synostoses syndrome 1 186500 for gene: NOG
Source NHS GMS was added to NOG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for NOG were set to 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
Mode of inheritance for NOG was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
NOG was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
NOG was added to Unexplained skeletal dysplasiapanel. Sources:
NOG was created by sleigh