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Regression

Gene: COX4I1

Amber List (moderate evidence)

COX4I1 (cytochrome c oxidase subunit 4I1)
EnsemblGeneIds (GRCh38): ENSG00000131143
EnsemblGeneIds (GRCh37): ENSG00000131143
OMIM: 123864, Gene2Phenotype
COX4I1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported, regression was a feature in both.
Sources: Expert list
Created: 25 Oct 2020, 9:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
OMIM
123864
Clinvar variants
Variants in COX4I1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox4i1 has been classified as Amber List (Moderate Evidence).

25 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox4i1 has been classified as Amber List (Moderate Evidence).

25 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COX4I1 was added gene: COX4I1 was added to Regression. Sources: Expert list Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX4I1 were set to 28766551; 22592081; 31290619 Phenotypes for gene: COX4I1 were set to Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 Review for gene: COX4I1 was set to AMBER