ClinGen Dosage Sensitivity Curation Page

BCLAF1

Curation Status: Complete

Gene Information

Location Information

Evidence for Loss Phenotypes

Evidence for loss of function phenotype
PubMed ID Description
28263302 Yuen et al. 2017 reported 2,620 individuals diagnosed with Autism Spectrum Disorders. One patient (AU3865301) was found with a single de novo nonsense mutation in the BLCAF1 gene. However, the clinical details of this patient was not available.
25262651 The collaboration of two consortia (EuroEPINOMICS and Epi4K/EPGP) reported exome-sequencing data of 356 trios with "clasical" epileptic encephalopathies, infantile spasms and Lennox Gastaut sydrome. One patient (isnd29975cb1) with infantile spasms was found with a single de novo nonsense mutation in the BCLAF1 gene. However, the clinical details of this patient was not available.

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.