Early onset or syndromic epilepsy
Gene: ASXL3

ASXL3 (additional sex combs like 3, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000141431
EnsemblGeneIds (GRCh37): ENSG00000141431
OMIM: 615115, Gene2Phenotype
ASXL3 is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 11:59 a.m. | Last Modified: 11 Oct 2023, 11:59 a.m.

Panel Version: 4.110

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 11 Oct 2023, 11:59 a.m.
Last Modified: 11 Oct 2023, 11:59 a.m.
Panel version: 4.110

Mafalda Gomes (Genomics England Curator)

Green List (high evidence)

Schirwani et al. (2021) report 45 new cases with ASXL3-related syndrome, and review all previously published individuals in the literature. ASXL3-related syndrome is typically associated with de novo loss of function variants. However, dominant-negative mutations have also been reported. Clinical features in affected individuals include feeding difficulties, hypotonia, developmental delay, limited speech, intellectual disability of variable severity, and characteristic facial features. Seizures were reported in 25% of individuals in their cohort. ClinGen and GeneReviews also state that seizures are reported in about a third of individuals. Seizures associated with ASXL3 range from generalised tonic-clonic seizures to absence seizures, and typically respond to standard anti-seizure medications. In summary, this gene should be promoted to GREEN in this panel, with autosomal dominant mode of inheritance.
Created: 20 Jan 2023, 11:16 a.m. | Last Modified: 20 Jan 2023, 11:16 a.m.

Panel Version: 3.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Bainbridge-Ropers syndrome, OMIM:615115

Publications

Created: 20 Jan 2023, 11:16 a.m.
Last Modified: 20 Jan 2023, 11:16 a.m.
Panel version: 3.21

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

In a review by Kuechler et al., seizures were reported in 3/15 cases. Additionally Khan et al., report a case with seizure onset since birth. In a description of novel 45 cases and review of previous 45 (n=90) by Schirwani et al., seizures were reported in 28/77 cases. Enough evidence for green rating also on this panel.
Sources: Literature
Created: 19 Jun 2022, 8:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bainbridge-Ropers syndrome

Publications

Created: 19 Jun 2022, 8:56 a.m.

Panel version: 2.536

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
NHS GMS

Phenotypes

Bainbridge-Ropers syndrome, OMIM:615115

OMIM

615115

Clinvar variants

Variants in ASXL3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: ASXL3.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to ASXL3. Source Expert Review Green was added to ASXL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Jan 2023, Gel status: 2