Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: ASXL2EnsemblGeneIds (GRCh38): ENSG00000143970
EnsemblGeneIds (GRCh37): ENSG00000143970
OMIM: 612991, Gene2Phenotype
ASXL2 is in 6 panels
2 reviews
Zornitza Stark (Australian Genomics)
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
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ASXL2 were set to 27693232
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)ASXL2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders panel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)ASXL2 was created by Sarah Leigh