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Likely inborn error of metabolism - targeted testing not possible v5.3 | ACACA |
Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ACACA. Tag Q4_23_NHS_review was removed from gene: ACACA. |
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Likely inborn error of metabolism - targeted testing not possible v5.3 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v5.2 | 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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Likely inborn error of metabolism - targeted testing not possible v4.83 | ACACA | Sarah Leigh Publications for gene: ACACA were updated from 6114432; 16103361; 34552920; 36709796 to 6114432; 34552920; 36709796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.82 | ACACA | Sarah Leigh Publications for gene: ACACA were set to 6114432; 34552920; 36709796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.81 | ACACA |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ACACA. Tag Q4_23_NHS_review tag was added to gene: ACACA. |
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Likely inborn error of metabolism - targeted testing not possible v4.81 | ACACA | Sarah Leigh reviewed gene: ACACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.81 | ACACA | Sarah Leigh Publications for gene: ACACA were set to 34552920; 36709796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.80 | ACACA | Sarah Leigh Publications for gene: ACACA were set to 34552920; 36709796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.80 | ACACA | Sarah Leigh Publications for gene: ACACA were set to 34552920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.79 | ACACA | Sarah Leigh Phenotypes for gene: ACACA were changed from Acetyl-CoA carboxylase deficiency to Acetyl-CoA carboxylase deficiency, OMIM: 613933 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.78 | ACACA | Sarah Leigh Classified gene: ACACA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.78 | ACACA | Sarah Leigh Gene: acaca has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.77 | ACACA |
Hannah Knight gene: ACACA was added gene: ACACA was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature Mode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACACA were set to 34552920 Phenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency Review for gene: ACACA was set to AMBER Added comment: PMID: 34552920 (2021) reported a baby who presented in her first two years of life with global developmental delay, microcephaly, hypotonia, and dysmorphic facial features. Two VUS's in ACACA were identified, and a decreased level of ACC1 and ACC1 enzyme activity was detected in patient-derived lymphocytes. In vitro studies revealed a disruption of lipid homeostasis in patient-derived lymphocytes, further inducing the deficit of cell motility capacity and that the deficiency could be partly attenuated by palmitate. Sources: Literature |