Macrocephaly_Megalencephaly
Gene: ASXL2

ASXL2 (additional sex combs like 2, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000143970
EnsemblGeneIds (GRCh37): ENSG00000143970
OMIM: 612991, Gene2Phenotype
ASXL2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycaemia, changes in bone mineral density, and/or seizures. At least 7 unrelated individuals reported.
Created: 6 Dec 2021, 3:19 a.m. | Last Modified: 6 Dec 2021, 3:19 a.m.

Panel Version: 0.95

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shashi-Pena syndrome, MIM# 617190

Publications

Created: 6 Dec 2021, 3:19 a.m.
Last Modified: 6 Dec 2021, 3:19 a.m.
Panel version: 0.95

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Shashi-Pena syndrome, MIM# 617190

OMIM

612991

Clinvar variants

Variants in ASXL2

Penetrance

None

Publications

Panels with this gene