Congenital Disorders of Glycosylation
Gene: EXT2

EXT2 (exostosin glycosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000151348
EnsemblGeneIds (GRCh37): ENSG00000151348
OMIM: 608210, Gene2Phenotype
EXT2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established association between mono allelic variants and multiple exostoses. More recently families reported with bi-allelic variants and neurodevelopmental phenotype.
Created: 21 Dec 2020, 7:12 a.m. | Last Modified: 21 Dec 2020, 7:12 a.m.

Panel Version: 0.336

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Seizures, scoliosis, and macrocephaly syndrome 616682; Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)

Publications

Created: 21 Dec 2020, 7:12 a.m.
Last Modified: 21 Dec 2020, 7:12 a.m.
Panel version: 0.336

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Seizures, scoliosis, and macrocephaly syndrome 616682
Exostoses, multiple, type 2 133701
Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)

OMIM

608210

Clinvar variants

Variants in EXT2

Penetrance

None

Publications

Panels with this gene