Macrocephaly_Megalencephaly
Gene: BRWD3EnsemblGeneIds (GRCh38): ENSG00000165288
EnsemblGeneIds (GRCh37): ENSG00000165288
OMIM: 300553, Gene2Phenotype
BRWD3 is in 8 panels
1 review
Chirag Patel (Genetic Health Queensland)
10 patients (from 6 unrelated families) with ID, macrocephaly and dysmorphic facial features.
Sources: LiteratureCreated: 31 Aug 2021, 1:07 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Intellectual developmental disorder, X-linked 93; OMIM # 300659
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 300553
- Clinvar variants
- Variants in BRWD3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: brwd3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: BRWD3 was added gene: BRWD3 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: BRWD3 were set to PMID: 30628072, 24462886 Phenotypes for gene: BRWD3 were set to Intellectual developmental disorder, X-linked 93; OMIM # 300659 Review for gene: BRWD3 was set to GREEN