COX4I1

cytochrome c oxidase subunit 4I1
OMIM: 123864, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green COX4I1 in Mendeliome Version 1.3802	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
Green COX4I1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.376	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
Green COX4I1 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1299 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 regression seizures short stature mild dysmorphic features Fanconi anemia
Green COX4I1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.601	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
Green COX4I1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060