This Panel is marked as Internal
Congenital anaemias
Gene: COX4I2
COX4I2 (cytochrome c oxidase subunit 4I2)
EnsemblGeneIds (GRCh38): ENSG00000131055
EnsemblGeneIds (GRCh37): ENSG00000131055
OMIM: 607976, Gene2Phenotype
COX4I2 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000131055
EnsemblGeneIds (GRCh37): ENSG00000131055
OMIM: 607976, Gene2Phenotype
COX4I2 is in 7 panels
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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
- 607976
- 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 Congenital anaemiaspanel. 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 Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
28 Apr 2015, Gel status: 2
Added New Source
GEL ()COX4I2 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 1
Added New Source
GEL ()COX4I2 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services