GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: NOG

NOG (noggin)
EnsemblGeneIds (GRCh38): ENSG00000183691
EnsemblGeneIds (GRCh37): ENSG00000183691
OMIM: 602991, Gene2Phenotype
NOG is in 8 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Defects in joint formation and synostoses gp of SD - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

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

OMIM

602991

Clinvar variants

Variants in NOG

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: NOG was added gene: NOG was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOG were set to 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

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: NOG