Mitochondrial disease

Gene: COX4I2

Red List (low evidence)

Missense variant reported in 4 affected individuals from 2 consanguineous families however the variant is also found in the gnomAD database (186 hets; 3 homs).

Created: 27 Feb 2020, 2:08 a.m. | Last Modified: 27 Feb 2020, 2:08 a.m.

Panel Version: 0.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• PMID: 19268275

Mode of pathogenicity
Other

Red List (low evidence)

Glu138Lys present in 3 homozygotes in gnomad, wich is out of keeping for this rare metabolic disorder. Note no other variants reported in this gene since original report in 2009. All variants submitted to ClinVar are VOUS/LB/B.

Created: 27 Feb 2020, 7:12 a.m. | Last Modified: 27 Feb 2020, 7:12 a.m.

Panel Version: 0.101

Two families reported, and also functional evidence.

Created: 29 Nov 2019, 8:16 a.m. | Last Modified: 29 Nov 2019, 8:16 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 19268275
• 22730437