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Intellectual disability

Gene: SETD2

Green List (high evidence)

SETD2 (SET domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000181555
EnsemblGeneIds (GRCh37): ENSG00000181555
OMIM: 612778, Gene2Phenotype
SETD2 is in 7 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.

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Luscan-Lumish syndrome, 616831
  • intellectual disability
Tags
de novo
OMIM
612778
Clinvar variants
Variants in SETD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SETD2.

19 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: setd2 has been classified as Green List (High Evidence).

19 Jul 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SETD2 were set to 25363768; 26084711; 24852293; 27317772

19 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SETD2 were set to Luscan-Lumish syndrome, 616831; intellectual disability

19 Jul 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SETD2 were set to 25363768; 26084711; 24852293

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

SETD2 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

SETD2 was created by Zornitza Stark