GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: COG1

COG1 (component of oligomeric golgi complex 1)
EnsemblGeneIds (GRCh38): ENSG00000166685
EnsemblGeneIds (GRCh37): ENSG00000166685
OMIM: 606973, Gene2Phenotype
COG1 is in 8 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Dysostoses with predominant vertebral with and without costal involvement gp of SD. At least 3 cases reported - green; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIg 611209

Publications

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

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Congenital disorder of glycosylation, type IIg 611209

OMIM

606973

Clinvar variants

Variants in COG1

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: COG1 was added gene: COG1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG1 were set to Congenital disorder of glycosylation, type IIg 611209

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: COG1