ClinGen Dosage Sensitivity Curation Page


Curation Status: Complete

Gene Information

Location Information

Evidence for Loss Phenotypes

Evidence for loss of function phenotype
PubMed ID Description
9618165 Vollrath et al. (1998): Describes mutations identified in four families with nail-patella syndrome and open-angle glaucoma, including two nonsense mutations and one frameshift leading to protein truncation.
9837817 McIntosh et al. (1998): Describes mutations identified in numerous families with nail-patella syndrome, with and without open-angle glaucoma, including six previously unreported nonsense mutations.
18414507 Bongers et al. (2008): Two whole-gene deletions and one deletion of exons 3-8 are described in three unrelated families with nail-patella syndrome. Deletions detected by MLPA.

Evidence for Triplosenstive Phenotype

NOTE:The loss of function score should be used to evaluate deletions, and the triplosensitivity score should be used to evaluated duplications. CNVs encompassing more than one gene must be evaluated in their totality (e.g. overall size, gain vs. loss, presence of other genes, etc). The rating of a single gene within the CNV should not necessarily be the only criteria by which one defines a clinical interpretation. Individual interpretations must take into account the phenotype described for the patient as well as issues of penetrance and expressivity of the disorder. ACMG has published guidelines for the characterization of postnatal CNVs, and these recommendations should be utilized (Genet Med (2011)13: 680-685). Exceptions to these interpretive correlations will occur, and clinical judgment should always be exercised.