BRWD3

bromodomain and WD repeat domain containing 3
OMIM: 300553, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green BRWD3 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 2: Growth disorders Version 1.121	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Other Phenotypes Mental retardation, X-linked 93, 300659 macrocephaly intellectual disability
Red BRWD3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Intellectual developmental disorder, X-linked 93, OMIM:300659 MENTAL RETARDATION X-LINKED TYPE 93
Red BRWD3 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.4 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes craniosynostosis, MONDO:0015469
Green BRWD3 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 93 300659
Green BRWD3 in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 93, 300659 MENTAL RETARDATION X-LINKED TYPE 93 (MRX93)