Intellectual disability
Gene: SETD2

SETD2 (SET domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000181555
EnsemblGeneIds (GRCh37): ENSG00000181555
OMIM: 612778, Gene2Phenotype
SETD2 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

added denovo tag
Created: 19 Jul 2018, 3:16 p.m.

Comment on list classification: New gene added by external expert review, and added publications support gene-disease association and rating of this gene to Green.
Created: 19 Jul 2018, 3:15 p.m.

Comment on publications: added PMID: 27317772 to further support gene-disease association
Created: 19 Jul 2018, 3:13 p.m.

An autosomal dominant syndrome with a variable phenotype. Clinical features include macrocephaly, distinctive facial appearance, postnatal overgrowth, various degrees of learning difficulties, autism spectrum disorder, and intellectual disability. Associated with phenotype in OMIM. At least four variants reported
Created: 19 Jul 2018, 2:40 p.m.

Created: 19 Jul 2018, 2:40 p.m.

Panel version: 2.205

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple unrelated individuals with de novo variants in this gene reported in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 2:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Luscan-Lumish syndrome

Publications

25363768, 26084711, 24852293

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jun 2018, 2:38 p.m.

Panel version: 2.109

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Victorian Clinical Genetics Services
Expert Review Green

Phenotypes

Luscan-Lumish syndrome, 616831
intellectual disability

Tags

de novo

OMIM

612778

Clinvar variants

Variants in SETD2

Penetrance

None

Publications

Panels with this gene