Activity

Filter

Cancel
Date Panel Item Activity
14 actions
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.
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)
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.
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