Likely inborn error of metabolism - targeted testing not possible
Gene: SCO1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SCO1 were changed from Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Hepatic failure, early onset, and neurologic disorder to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Publications for gene: SCO1 were set to 27604308
Source NHS GMS was added to SCO1. Source London North GLH was added to SCO1.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; Hepatic failure, early onset, and neurologic disorder; Isolated complex IV deficiency for gene: SCO1
gene: SCO1 was added gene: SCO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO1 were set to 27604308 Phenotypes for gene: SCO1 were set to Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; Hepatic failure, early onset, and neurologic disorder; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)