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| Intellectual disability v6.11 | ACACA | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ACACA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.11 | ACACA | Sarah Leigh edited their review of gene: ACACA: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.10 | ACACA |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACACA. Source NHS GMS was added to ACACA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v5.353 | ACACA | Sarah Leigh Tag Q4_23_NHS_review was removed from gene: ACACA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.353 | ACACA | Sarah Leigh Entity copied from Likely inborn error of metabolism - targeted testing not possible v4.83 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.353 | ACACA |
Sarah Leigh gene: ACACA was added gene: ACACA was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Amber,Literature Q4_23_promote_green, Q4_23_NHS_review tags were added to gene: ACACA. Mode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACACA were set to 6114432; 34552920; 36709796 Phenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency, OMIM: 613933 |
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