Hydrocephalus_Ventriculomegaly
Gene: COG8EnsemblGeneIds (GRCh38): ENSG00000213380
EnsemblGeneIds (GRCh37): ENSG00000213380
OMIM: 606979, Gene2Phenotype
COG8 is in 7 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 30690882: single patient with a homozygous splice COG8 variant, sibling was similarly affected but no DNA available. Patient displayed antenatal phenotype arthrogryposis multiplex congenita, Dandy Walker malformation and ventriculomegaly.
Sources: LiteratureCreated: 26 Oct 2020, 1:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIh 611182
Publications
- PMID: 30690882
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Congenital disorder of glycosylation, type IIh 611182
- OMIM
- 606979
- Clinvar variants
- Variants in COG8
- Penetrance
- None
- Publications
-
- PMID: 30690882
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cog8 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cog8 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: COG8 was added gene: COG8 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG8 were set to PMID: 30690882 Phenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh 611182 Review for gene: COG8 was set to RED