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  3. ASXL2
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Skeletal dysplasia

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 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, 3:14 a.m. | Last Modified: 6 Dec 2021, 3:14 a.m.
Panel Version: 0.10096

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shashi-Pena syndrome, MIM# 617190

Publications

Created: 6 Dec 2021, 3:14 a.m.
Last Modified: 6 Dec 2021, 3:14 a.m.
Panel version: Imported from Mendeliome panel version 0.10096

Details

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

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASXL2 was added gene: ASXL2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ASXL2 were set to 27693232 Phenotypes for gene: ASXL2 were set to Shashi-Pena syndrome 617190; Shashi-Pena syndrome 617190