Gastrointestinal neuromuscular disorders
Gene: COG7EnsemblGeneIds (GRCh38): ENSG00000168434
EnsemblGeneIds (GRCh37): ENSG00000168434
OMIM: 606978, Gene2Phenotype
COG7 is in 11 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted from green to red due to expert review.Created: 13 Oct 2016, 4:04 p.m.
Neil shah (GOSH)
not cipo (Chronic Intestinal Pseudobstruction) geneCreated: 12 Oct 2016, 7:10 a.m.
Mode of inheritance
Unknown
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Congenital disorder of glycosylation, type IIe 608779
- OMIM
- 606978
- Clinvar variants
- Variants in COG7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Gastrointestinal neuromuscular disorders
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- DDG2P
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for COG7 were set to Congenital disorder of glycosylation, type IIe 608779
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for COG7 were set to Congenital disorder of glycosylation, type IIe 608779
Added New Source
Sarah Leigh (Genomics England Curator)COG7 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)COG7 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)COG7 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)COG7 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)COG7 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN