BRWD3

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green BRWD3 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

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
  • Literature
Phenotypes
  • Intellectual developmental disorder, X-linked 93
  • OMIM # 300659

Green BRWD3 in Mendeliome


Version 1.1902

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked 93, MIM # 300659

Green BRWD3 in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.12

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked 93, OMIM # 300659

Green BRWD3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

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
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, X-linked 93, MIM # 300659

Green BRWD3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 93, 300659 (3)

Amber BRWD3 in Fetal anomalies


Version 1.255

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 Amber
  • Genomics England PanelApp
Phenotypes
  • Intellectual developmental disorder, X-linked 93, MIM# 300659

Green BRWD3 in Prepair 1000+


Level 2: Screening
Version 1.9

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 93, 300659 (3)

Green BRWD3 in Prepair 500+


Level 2: Screening
Version 1.1

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 93, 300659 (3)