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Intellectual disability syndromic and non-syndromic

Gene: BRWD3

Green List (high evidence)

BRWD3 (bromodomain and WD repeat domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000165288
EnsemblGeneIds (GRCh37): ENSG00000165288
OMIM: 300553, Gene2Phenotype
BRWD3 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported with ID, overgrowth, and in particular macrocephaly.
Created: 30 Dec 2021, 12:47 a.m. | Last Modified: 30 Dec 2021, 12:47 a.m.
Panel Version: 0.4396

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, 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
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, X-linked 93, MIM # 300659
OMIM
300553
Clinvar variants
Variants in BRWD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brwd3 has been classified as Green List (High Evidence).

30 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BRWD3 were changed from to Intellectual developmental disorder, X-linked 93, MIM # 300659

30 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BRWD3 were set to

30 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BRWD3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

22 Nov 2019, Gel status: 3

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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRWD3 was set to Unknown