Cerebellar and Pontocerebellar Hypoplasia
Gene: SETD2

SETD2 (SET domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000181555
EnsemblGeneIds (GRCh37): ENSG00000181555
OMIM: 612778, Gene2Phenotype
SETD2 is in 9 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Brain abnormalities are a feature, however, insufficient evidence supporting cerebellar hypoplasia.

Marzin 2019: Reported 4 patients. Only 1 presented with small cerebellar vermis consistent with Dandy-Walker malformation. Also provides a review.

Aldinger 2019: 2 patients, one with Dandy-Walker (likely same patient as Marzin) and one with cerebellar hypoplasia. (analysed cohort of DWM and CBLH)

Lumish 2015: Reported 1 patient, with Chiari I malformation.

Cerebellar hypoplasia is not a listed feature in OMIM. 8 patients with SETD2 variants in Decipher, and no evidence of cerebellar hypoplasia.

Gene not in PanelApp UK/RMH list.
Created: 27 Apr 2020, 5:07 a.m. | Last Modified: 27 Apr 2020, 5:07 a.m.

Panel Version: 0.68

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Luscan-Lumish syndrome (MIM#616831)

Publications

Created: 27 Apr 2020, 5:07 a.m.
Last Modified: 27 Apr 2020, 5:07 a.m.
Panel version: 0.68

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Luscan-Lumish syndrome (MIM#616831)

OMIM

612778

Clinvar variants

Variants in SETD2

Penetrance

None

Publications

Panels with this gene