BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: COG8

COG8 (component of oligomeric golgi complex 8)
EnsemblGeneIds (GRCh38): ENSG00000213380
EnsemblGeneIds (GRCh37): ENSG00000213380
OMIM: 606979, Gene2Phenotype
COG8 is in 8 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIh, 611182

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:16 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Congenital disorder of glycosylation, type IIh, 611182

OMIM

606979

Clinvar variants

Variants in COG8

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COG8 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source