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Intellectual disability syndromic and non-syndromic

Gene: COG7

Green List (high evidence)

COG7 (component of oligomeric golgi complex 7)
EnsemblGeneIds (GRCh38): ENSG00000168434
EnsemblGeneIds (GRCh37): ENSG00000168434
OMIM: 606978, Gene2Phenotype
COG7 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported, IVS1+4A-C variant is recurrent (founder), supportive functional data.
Created: 29 May 2024, 5:01 a.m. | Last Modified: 29 May 2024, 5:01 a.m.
Panel Version: 0.6004

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIe , MIM#608779

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Congenital disorder of glycosylation, type IIe , MIM#608779
OMIM
606978
Clinvar variants
Variants in COG7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cog7 has been classified as Green List (High Evidence).

29 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779

29 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COG7 were set to

29 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

29 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COG7 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: COG7 was added gene: COG7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COG7 was set to Unknown