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| Intellectual disability - microarray and sequencing v2.978 | FARS2 |
Catherine Snow Source Expert Review Green was added to FARS2. Source Expert Review was added to FARS2. Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability - microarray and sequencing v2.784 | FARS2 |
Konstantinos Varvagiannis gene: FARS2 was added gene: FARS2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARS2 were set to 30869852 Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946; Spastic paraplegia 77, autosomal recessive, 617046 Penetrance for gene: FARS2 were set to Complete Review for gene: FARS2 was set to GREEN gene: FARS2 was marked as current diagnostic Added comment: PMID: 30869852 (Almannai et al, 2019) is a review on FARS2 deficiency. DD/ID and seizures are observed in both infantile- and later-onset forms of the disorder (FARS2-related infantile-onset epileptic mitochondrial encephalopathy and FARS2-related later-onset spastic paraplegia respectively). The phenotype of 26 individuals (from 19 families) and 11 individuals (from 6 families) with infantile and later-onset FARS2 deficiency is summarized in table 2. As commented by the authors, pathogenic variants may include missense, nonsense, splice-site variants, small indels as well as larger deletions/duplications (table 1 and footnote). The relevant OMIM entries are the following: Combined oxidative phosphorylation deficiency 14 (MIM 614946) and Spastic paraplegia 77, autosomal recessive (MIM 617046). FARS2 is included in the DD panel of G2P, associated with Neurometabolic disorder due to FARS2 deficiency (disease confidence: confirmed). This gene is included in gene panels for ID offered by some diagnostic laboratories. As a result, FARS2 can be considered for inclusion in the ID panel as green (or amber) Sources: Literature |
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