1. Panels
  2. Fetal anomalies
  3. ASXL3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: ASXL3

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features.

Few congenital anomalies reported, including non-specific brain anomalies.
Created: 6 Dec 2021, 3:24 a.m. | Last Modified: 6 Dec 2021, 3:24 a.m.
Panel Version: 0.968

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bainbridge-Ropers syndrome (OMIM # 615485)

Created: 6 Dec 2021, 3:24 a.m.
Last Modified: 6 Dec 2021, 3:24 a.m.
Panel version: 0.968

Ain Roesley (Victorian Clinical Genetics Services)

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, 4:49 a.m. | Last Modified: 7 Jan 2020, 4:49 a.m.
Panel Version: 0.1517

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bainbridge-Ropers syndrome (OMIM # 615485)

Publications

Created: 7 Jan 2020, 4:49 a.m.
Last Modified: 7 Jan 2020, 4:49 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1517

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Bainbridge-Ropers syndrome (OMIM # 615485)
OMIM
615115
Clinvar variants
Variants in ASXL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: asxl3 has been classified as Amber List (Moderate Evidence).

6 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASXL3 were changed from BAINBRIDGE-ROPERS SYNDROME to Bainbridge-Ropers syndrome (OMIM # 615485)

6 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASXL3 were set to

6 Dec 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ASXL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASXL3 was added gene: ASXL3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME