Autism
Gene: ASXL3

ASXL3 (additional sex combs like 3, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000141431
EnsemblGeneIds (GRCh37): ENSG00000141431
OMIM: 615115, Gene2Phenotype
ASXL3 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 28100473 is a review of previously reported variants in ASXL3 found in Bainbridge-Ropers syndrome patients (n = 21). Authors noted 2 clusters of variants: 5' cluster (5' of exon 11) and 3' cluster (5' of exon 12).

PMID: 27901041 provides an additional 6 unrelated probands

Due to presence of variants in the last exon (exon 12), dominant-negative disease mechanism has also been proposed (PMID: 23383720)
Created: 7 Jan 2020, 4:58 a.m. | Last Modified: 7 Jan 2020, 4:58 a.m.

Panel Version: 0.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bainbridge-Ropers syndrome (OMIM # 615485)

Publications

Created: 7 Jan 2020, 4:58 a.m.
Last Modified: 7 Jan 2020, 4:58 a.m.
Panel version: 0.27

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Bainbridge-Ropers syndrome (OMIM # 615485)

OMIM

615115

Clinvar variants

Variants in ASXL3

Penetrance

None

Publications

Panels with this gene