Overgrowth
Gene: SUZ12

SUZ12 (SUZ12 polycomb repressive complex 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000178691
EnsemblGeneIds (GRCh37): ENSG00000178691
OMIM: 606245, Gene2Phenotype
SUZ12 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals reported, overgrowth is a key feature of this syndrome.
Created: 4 Jul 2020, 11:14 a.m. | Last Modified: 4 Jul 2020, 11:14 a.m.

Panel Version: 0.54

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Imagawa-Matsumoto syndrome, MIM# 618786

Publications

Created: 4 Jul 2020, 11:14 a.m.
Last Modified: 4 Jul 2020, 11:14 a.m.
Panel version: 0.54

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Imagawa-Matsumoto syndrome, MIM# 618786

OMIM

606245

Clinvar variants

Variants in SUZ12

Penetrance

None

Publications

Panels with this gene