Overgrowth
Gene: BRWD3EnsemblGeneIds (GRCh38): ENSG00000165288
EnsemblGeneIds (GRCh37): ENSG00000165288
OMIM: 300553, Gene2Phenotype
BRWD3 is in 8 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
10 patients (from 6 unrelated families) with ID, macrocephaly and dysmorphic facial features. Fits definition of overgrowth in panel description.Created: 31 Aug 2021, 1:05 a.m. | Last Modified: 31 Aug 2021, 1:05 a.m.
Panel Version: 1.3
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Predominantly macrocephaly rather than generalised overgrowth, though some of the reported individuals are tall.Created: 17 Jan 2021, 6:56 a.m. | Last Modified: 17 Jan 2021, 6:56 a.m.
Panel Version: 0.63
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 93, MIM# 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
- Victorian Clinical Genetics Services
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, MIM# 300659 to Intellectual developmental disorder, X-linked 93, OMIM # 300659
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BRWD3 were set to 17668385
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: BRWD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: brwd3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BRWD3 were changed from to Mental retardation, X-linked 93, MIM# 300659
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BRWD3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: BRWD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BRWD3 was added gene: BRWD3 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BRWD3 was set to Unknown