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This Panel is marked as Internal

Non-Fanconi anaemia
Gene: COX4I2

COX4I2 (cytochrome c oxidase subunit 4I2)
EnsemblGeneIds (GRCh38): ENSG00000131055
EnsemblGeneIds (GRCh37): ENSG00000131055
OMIM: 607976, Gene2Phenotype
COX4I2 is in 7 panels

2 reviews

Mark Greenslade (Bristol Genetics Laboratory)

Red List (low evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Helen Savage (Congenica Ltd)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Exocrine pancreatic insufficiency, dyserythropoietic anemia and calvarial hyperostosis

Created: 26 Jan 2016, 2:56 p.m.

Panel version: 0.228

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714

OMIM

Clinvar variants

Variants in COX4I2

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COX4I2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COX4I2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COX4I2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COX4I2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COX4I2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COX4I2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen