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Intellectual disability v9.364 COQ5 Ida Ertmanska Publications for gene: COQ5 were set to 19377476; 26350204; 21937992; 29044765
Intellectual disability v9.363 COQ5 Ida Ertmanska Phenotypes for gene: COQ5 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency to ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028; mitochondrial disease, MONDO:0044970
Intellectual disability v9.362 COQ5 Ida Ertmanska Classified gene: COQ5 as Amber List (moderate evidence)
Intellectual disability v9.362 COQ5 Ida Ertmanska Added comment: Comment on list classification: There are now 6 individuals from 3 unrelated families with intellectual disability and developmental delay, harbouring biallelic variants in COQ5. Hence, this gene can be promoted to Green at the next GMS update.
Intellectual disability v9.362 COQ5 Ida Ertmanska Gene: coq5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.361 COQ5 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: COQ5.
Intellectual disability v9.361 COQ5 Ida Ertmanska reviewed gene: COQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29044765, 36266294, 37599337, 41199775; Phenotypes: ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028, mitochondrial disease, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.468 COQ5 Louise Daugherty Source Victorian Clinical Genetics Services was added to COQ5.
Intellectual disability COQ5 Louise Daugherty classified COQ5 as Red List (low evidence)
Intellectual disability COQ5 Louise Daugherty classified COQ5 as Amber List (moderate evidence)
Intellectual disability COQ5 Louise Daugherty edited their review of gene: COQ5
Intellectual disability COQ5 Zornitza Stark reviewed gene: COQ5