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Intellectual disability syndromic and non-syndromic

Gene: COG6

Green List (high evidence)

COG6 (component of oligomeric golgi complex 6)
EnsemblGeneIds (GRCh38): ENSG00000133103
EnsemblGeneIds (GRCh37): ENSG00000133103
OMIM: 606977, Gene2Phenotype
COG6 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ID is part of the phenotype.
Created: 28 Nov 2019, 7:33 p.m. | Last Modified: 28 Nov 2019, 7:33 p.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iil, MIM#614576

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Congenital disorder of glycosylation, type Iil, MIM#614576
OMIM
606977
Clinvar variants
Variants in COG6
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COG6 were changed from Congenital disorder of glycosylation, type Iil, MIM#614576 to Congenital disorder of glycosylation, type Iil, MIM#614576

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cog6 has been classified as Green List (High Evidence).

14 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type Iil, MIM#614576

14 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COG6 was added gene: COG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COG6 was set to Unknown