Skeletal Dysplasia_Fetal
Gene: COG1EnsemblGeneIds (GRCh38): ENSG00000166685
EnsemblGeneIds (GRCh37): ENSG00000166685
OMIM: 606973, Gene2Phenotype
COG1 is in 7 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
IUGR known feature - but disproportionate impact on length and rhizomelia only reported in the literature in early infancy rather than prenatally.
Sources: Expert list, LiteratureCreated: 16 Oct 2022, 11:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIg - MIM#611209
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Expert list
- Phenotypes
-
- Congenital disorder of glycosylation, type IIg - MIM#611209
- OMIM
- 606973
- Clinvar variants
- Variants in COG1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cog1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cog1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: COG1 was added gene: COG1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG1 were set to 16537452; 19008299; 17904886; 11980916; 18462449 Phenotypes for gene: COG1 were set to Congenital disorder of glycosylation, type IIg - MIM#611209 Review for gene: COG1 was set to AMBER