PubMed ID | Description |
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32487729 | Rausell et al. (2020) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present in >1% of the gnomAD population. An example of a homozygous likely LoF variant in this gene in gnomAD includes p.Tyr47Ter (274 homozygous individuals). |
22344438 | MacArthur et al. (2012) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present at >5% of the 1000 Genomes Project database. |
32461654 | Karczewski et al. (2020) identifies 443,769 high confidence loss of function variants in the Genome Aggregation Database (gnomAD) population including this likely LoF variant (p.Tyr47Ter). Several methods were used to identify these genes including manual curation and utilizing LOEUF scores. |
This gene was classified as dosage sensitivity unlikely on 2/2/2021 based on review of population data as described in the PMIDs above. These genes all have at least one curated homozygous loss of function variant in 1% or greater of the gnomAD population dataset and some have also been observed in additional population datasets. As of January 2021, there are no disease associations found in OMIM, and no reports suggesting a Mendelian disease association in the literature. The gnomAD pLI score is 0 and the LOEUF score is 1.89 predicting that this gene is tolerant of LoF variation.