Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: COX7B

Amber List (moderate evidence)

COX7B (cytochrome c oxidase subunit 7B)
EnsemblGeneIds (GRCh38): ENSG00000131174
EnsemblGeneIds (GRCh37): ENSG00000131174
OMIM: 300885, Gene2Phenotype
COX7B is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single report of 4 affected individuals in 2012, of whom only two had dev delay/ID.
Created: 29 Nov 2019, 8:49 p.m. | Last Modified: 29 Nov 2019, 8:49 p.m.
Panel Version: 0.44

Mode of inheritance
Other

Phenotypes
Linear skin defects with multiple congenital anomalies 2, MIM#300887

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Linear skin defects with multiple congenital anomalies 2, MIM#300887
OMIM
300885
Clinvar variants
Variants in COX7B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox7b has been classified as Amber List (Moderate Evidence).

29 Nov 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887

29 Nov 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX7B were set to

29 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox7b has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COX7B was added gene: COX7B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COX7B was set to Unknown