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Intellectual disability syndromic and non-syndromic

Gene: COX4I2

Red List (low evidence)

COX4I2 (cytochrome c oxidase subunit 4I2)
EnsemblGeneIds (GRCh38): ENSG00000131055
EnsemblGeneIds (GRCh37): ENSG00000131055
OMIM: 607976, Gene2Phenotype
COX4I2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ID not really part of the phenotype. Two families reported, functional data to support gene-disease association.
Created: 29 Nov 2019, 8:14 a.m. | Last Modified: 29 Nov 2019, 8:14 a.m.
Panel Version: 0.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714
OMIM
607976
Clinvar variants
Variants in COX4I2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox4i2 has been classified as Red List (Low Evidence).

29 Nov 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714

29 Nov 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX4I2 were set to

29 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox4i2 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COX4I2 was added gene: COX4I2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COX4I2 was set to Unknown