Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome

Human Mutation

Volumn 38, Issue 5, 2017, Pages 517-523

  Carlston, Colleen M ^a,b   O'Donnell Luria, Anne H ^c,d,e   Underhill, Hunter R ^a   Cummings, Beryl B ^c,d,f   Weisburd, Ben ^c,d   Minikel, Eric V ^c,d,f   Birnbaum, Daniel P ^c,d   Tvrdik, Tatiana ^b   MacArthur, Daniel G ^c,d   Mao, Rong ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

Author keywords

ASXL1; Bohring Opitz syndrome; clonal hematopoiesis of indeterminate potential; DNMT3A; Exome Aggregation Consortium; somatic mosaicism; Tatton Brown Rahman syndrome; variant interpretation

Indexed keywords

ADDITIONAL SEX COMBS LIKE 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; ASXL1 PROTEIN, HUMAN; REPRESSOR PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BOHRING OPITZ SYNDROME; CASE REPORT; CHILD; CORPUS CALLOSUM AGENESIS; FEEDING DIFFICULTY; FEMALE; GENETIC VARIABILITY; GERMLINE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; MOLECULAR PATHOLOGY; MOSAICISM; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; REFERENCE DATABASE; SANGER SEQUENCING; SOMATIC MUTATION; WHOLE EXOME SEQUENCING; AGED; ALLELE; AMINO ACID SUBSTITUTION; CRANIOSYNOSTOSES; FACIES; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETICS; INFANT; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PROCEDURES; VERY ELDERLY;

AGED; AGED, 80 AND OVER; ALLELES; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DATABASES, GENETIC; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GERM-LINE MUTATION; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; REPRESSOR PROTEINS;

EID: 85018515563     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23203     Document Type: Article

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