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Prepair 1000+

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

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Mutations in COG7 impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.
Features include dysmorphic facies with a small mouth, micro- and retrognathia, short neck, wrinkled and loose skin, adducted thumbs, overlapping long fingers, hypotonia, hepatosplenomegaly and progressive jaundice, seizures, and early death.
Created: 6 Aug 2024, 7:59 a.m. | Last Modified: 6 Aug 2024, 7:59 a.m.
Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Aug 2024, 7:59 a.m.
Last Modified: 6 Aug 2024, 7:59 a.m.
Panel version: 1.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

8 Aug 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).

8 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COG7 were changed from Congenital disorder of glycosylation, type IIe, 608779 (3) to Congenital disorder of glycosylation, type IIe, MIM # 608779

8 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COG7 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COG7 was added gene: COG7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe, 608779 (3)