Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: ASXL2

Green List (high evidence)

ASXL2 (additional sex combs like 2, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000143970
EnsemblGeneIds (GRCh37): ENSG00000143970
OMIM: 612991, Gene2Phenotype
ASXL2 is in 7 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Macrocephaly is a consistent feature, rather than generalised overgrowth. Some of the reported individuals have severe growth retardation.
Created: 4 Jul 2020, 2:58 a.m. | Last Modified: 4 Jul 2020, 2:58 a.m.
Panel Version: 1.94

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shashi-Pena syndrome, MIM# 617190

Publications

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM and as a probable G2P. At least 6 variants reported in at least 6 unrelated cases.
Created: 19 Dec 2017, 4:54 p.m.

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

Phenotypes
Shashi-Pena syndrome 617190

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Shashi-Pena syndrome 617190
OMIM
612991
Clinvar variants
Variants in ASXL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ASXL2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders panel. Sources: Literature

19 Dec 2017, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ASXL2 was created by Sarah Leigh