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Intellectual disability v3.1514 COX6B1 Arina Puzriakova Tag for-review was removed from gene: COX6B1.
Intellectual disability v3.1510 COX6B1 Sarah Leigh commented on gene: COX6B1
Intellectual disability v3.1509 COX6B1 Arina Puzriakova Source Expert Review Red was added to COX6B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.548 COX6B1 Arina Puzriakova Phenotypes for gene: COX6B1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D) to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Intellectual disability v3.547 COX6B1 Arina Puzriakova Publications for gene: COX6B1 were set to 0
Intellectual disability v3.546 COX6B1 Arina Puzriakova Classified gene: COX6B1 as Green List (high evidence)
Intellectual disability v3.546 COX6B1 Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red and will be flagged for evaluation at the next GMS panel update (added 'for-review' tag) in view of the recent review by Zornitza Stark. As discussed the disease presentation is not prominent for ID, and rather is primarily characterised by lactate acidosis and encephalopathy which should be sufficient indications for diagnostic testing - COX6B1 is already Green on relevant metabolic/mitochondrial panels.
Intellectual disability v3.546 COX6B1 Arina Puzriakova Gene: cox6b1 has been classified as Green List (High Evidence).
Intellectual disability v3.542 COX6B1 Arina Puzriakova Tag for-review tag was added to gene: COX6B1.
Intellectual disability v3.484 COX6B1 Zornitza Stark reviewed gene: COX6B1: Rating: RED; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability COX6B1 BRIDGE consortium edited their review of COX6B1
Intellectual disability COX6B1 BRIDGE consortium edited their review of COX6B1
Intellectual disability COX6B1 BRIDGE consortium reviewed COX6B1