Mitochondrial disease
Gene: COX4I1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Further family with two affected sibs reported in PMID 31290619, upgrade to Amber.
Created: 25 Oct 2020, 9:24 a.m. | Last Modified: 25 Oct 2020, 9:24 a.m.

Panel Version: 0.536

Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals, i.e. heterozygous in each individual.
Created: 12 Apr 2020, 7:12 a.m. | Last Modified: 19 Apr 2020, 4:27 a.m.

Panel Version: 0.430

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 12 Apr 2020, 7:12 a.m.
Last Modified: 19 Apr 2020, 4:27 a.m.
Panel version: 0.536

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family with a homozygous variant, with assays in patient fibroblasts only.
Sources: NHS GMS
Created: 22 Mar 2020, 11:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
short stature; mild dysmorphic features; Fanconi anemia

Publications

28766551

Created: 22 Mar 2020, 11:31 p.m.

Panel version: 0.312

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS

Phenotypes

Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
regression
seizures
short stature
mild dysmorphic features
Fanconi anemia

OMIM

123864

Clinvar variants

Variants in COX4I1

Penetrance

None

Publications

Panels with this gene